Bookmark and Share

Publications Utilizing Tissue Donations

    Adrenoleukodystrophy
  • Brain, liver, and adipose tissue erucic and very long chain fattyì acid levels in adrenoleukodystrophy patients treated with ì glyceryl trierucate and trioleate oils (Lorenzo's Oil).Rasmussen, M., Moser, A.B., Borel, J., Khangoora, S. and Moser, ì H.W.Neurochem. Res. 19:1073-1082, 1994. 
  • Human leukocyte antigens and cytokine expression in cerebral ì inflammatory demylinative lesions of X-linked ì adrenoleukodystrophy and multiple sclerosis.McGuiness, M.C., Powers, J.M., Bias, W.B., Schmeckpeper, B.J., ì Segal, A.H., Gowda, V.C., Wesselingh, S.L., Berger, J., Griffin, ì D.E. and Smith, K.D.J. Neuroimmun. 75 (1-2): 174-182, 1997. 
  • Cytokine-induced accumulation of very long chain fatty acids in ì C6 glial cells: implication for X-adrenoleukodystrophy.Khan, M., Pahan, K. and Singh, I.J. Neurochem. 71: 78-87, 1998. 
  • Inducible nitric oxide synthetase in the central nervous system ì of patients with X-adrenoleukodystrophy.Gilg, A.G., Singh, A.K. and Singh, I.J. Neuropath. Expt. Neurol. 59:1063-1069, 2000. 
  • Potential environmental and host participants in the early white ì matter lesions of adrenoleukodystrophy: morphologic evidence forì CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and ì CD1-mediated lipid antigen presentation.Ito, M., Blumberg, B., Mock, D., Goodman, A., Moser, A., Moser, ì H. Smith, K. and Powers, J.JNEN 60: 1004-1019, 2001. 
  • Potential environmental and host participants in the early white ì matter lesion of Adrenleukodystrophy: morphologic evidence for ì CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and ì CD1-mediated lipid antigen presentation.Ito, M., Blumberg, B., Mock, D., Goodman, A., Moser, A., Moser, ì H. Smith, K. and Powers, J.JNEN 60: 1004-1019, 2001. 
  • Potential environmental and host participants in the early white ì matter lesion of adrenoleukodystrophy: morphologic evidence for ì CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and ì CD1-mediated lipid antigen presentation.Ito, M., Blumberg, B., Mock, D., Goodman, A., Moser, A., Moser, ì H., Smith, K. and Powers, J.JNEN 60: 1004-1019, 2001. 
  • Correlation of very long fatty acids accumulation and ì inflammatory disease progression in childhood X-ALD: implicationsì for potential therapies.Paintlia, A.S., Gilg, A.G., Khan, M., Singh, A.K., Barbosa, E., ì and Singh, I.Neurobiology of Disease 14: 425-439, 2003. 
  • Decreased expression of ABCD4 and BG1 genes early in the ì pathogenesis of X-linked adrenoleukodystrophy.Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque,B., ì Vidaud, M. and Aubourg, P.Human Mol. Gen. 14:1293-1303, 2005. 
  • Decreased expression of ABCD4 and BG1 genes early in the ì pathogenesis of X-linked adrenoleukodystrophy.Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque, B., ì Vidaud, M. and Aubourg, P.Human Molecular Genetics, 14(10): 1293-1303, 2005. 
  • Lipopolysaccharide-induced peroxisomal dysfunction exacerbates ì cerebral white matter injury: Attenuation by N-acetyl cyteine.Paintlia, M., Paintlia, A., Contreras, M., Singh, I. and Singh, AExperimental Neurology 210: 560-576, 2008. 
  • Plasmalogen deficiency in cerebral adrenoleukodystrophy and its ì modulation by lovastatin.Khan, M., Singh, K. and Singh, I.J of Neurochemistry 106: 1766-1779, 2008. 
  • Is microglial apoptosis an early pathogenic change in cerebral ì X-Linked adrenoleukodystrophy?Eichler, F., Ren, J., Cossoy, M., Rietsch, A., Nagpal, S., Moser,ì A., Frosch, M. and Ransohoff, R.Ann Neurol 63: 729-742, 2008. 
  • Very long-chain fatty acid accumulation causes lipotoxic responseì via 5-lipoxygenase in cerebral adrenoleukodystrophy.Khan, M., Singh, J., Gilg, A., Uto, T. and Singh, I.J of Lipid Research 51: 1685-1695, 2010 
  • Adrenoleukodystrophy / Multiple Sclerosis
  • Cytokine-mediated induction of ceramide production is ì redox-sensitive.Singh, I., Pahan, K., Khan, M. and Singh, A.K.J. Biol. Chem. 278:20354-20362, 1998. 
  • Adrenomyeloneuropathy
  • Adrenomyeloneuropathy: a neuropathologic review featuring its ì noninflammatory myelopathy.Powers, J.M., DeCiero, D.P., Masumi, I., Moser, A.B., and Moser, ì H.W.J. Neuropath. Exp. Neurol. 59:89-102, 2000. 
  • Aicardi Goutieres Syndrome
  • Aicardi-Goutieres syndrome barbours abundant systemic and ì brain-reactive autantiodies.Cuadrado, E. et al.Ann. Rheum. Dis. On Line 
  • Aicardi-Goutieres syndrome barbours abundant systemic and ì brain-reactive autantiodies.Cuadrado, E. et al.Ann. Rheum. Dis. On Line 
  • AIDS
  • Hippocampal injury and alterations in neuronal chemokine ì co-receptor expression in patients with AIDS.Petito, C., Roberts, B., Cantando, J., Rabinstein, A. and Duncan,ì R.J. Neuropathol. Exp. Neurol. 60:377-385, 2001. 
  • Detection of HIV-1 gene sequences in hippocampal neurons isolatedì from postmortem AIDS brains by laser captures microdissection.Torres-Munoz, J., Sockton, P., Tacoronte, N., Roberts, B., ì Maronpot, R.R., and Petitio, C.K.J. Neuropathol. Exp. Neurol. 60(9), 885-892, 2001. 
  • Compartmentalization of HIV-1 in the central nervous system: roleì of the choroid plexus.Burkala, E.J., He, J., West, J.T., Wood, C., and Petito, C.K.AIDS 19(7):675-684, 2005. 
  • Compartmentalization of HIV-1 in the CNS: role of the choroid ì plexus.Burkala, E., Jun, H., West, J., Wood, C., and Petito, C.AIDS 19:675-684, 2005. 
  • Brain CD8+ and cytotoxic T lymphocytes are associated with, and ì may be specific for, human immunodeficiency virus type 1 ì encephalitis in patients with acquried immunodeficiency syndrome.Petito, C., Torres, Munoz, J., Zielger, F., and McCarthy, M.J. NeuroVirology 12: 272-283, 2006. 
  • Successful application of hyper-branched multi-displacement ì genomic amplicficaiton to detect HIV-1 sequences in single ì neurons removed from autopsy brain sections by laser capture ì microdissection.Torres-Munoz, Nunez, M and Petito, C.J Molecular Diagnostics 10(4): 317-324, 2008. 
  • Alexander Disease
  • Advanced glycation modification of Rosenthal fibers in patients ì with Alexander's disease.Castellani, R.J., Perry, G. Harris, PlL., Monnier, V.M., Cohen, ì M.L. and Smith, M.A.Neurosci. Lett. 231:79-82, 1997. 
  • Advanced lipid peroxidation end-products in Alexander's disease.Castellani, R.J., Perry, G., Harris, P.L.R., Cohen, M.L., Sayre, ì L.M., Salomon, R.G. and Smith, M.A.Brain Res. 787:15-18, 1998. 
  • High-molecular-weight GFAP-positive aggregates in Alexander's ì disease.Johnson, A.B. and Chiu, F.-C.J. Mol. Neurosci. 13:230-231, 1999. 
  • Recent studies on Alexander disease.Johnson, A.B. and Chiu, F.-C.J. Mol. Neurosci. 12:202, 1999. 
  • Alexander disease: Alzheimer disease of the developing brain?Castellani, R.J., Perry, G., Brenner, D.S. and Smith, M.A.Alzheimer Dis. Assc. Disord. 13:232-235, 1999. 
  • Oxidative protein modifications in Rosenthal fibers: implicationsì for Alexander's disease pathogenesis.Castellani, R.J., Perry, G., Harris, and Smith, M.A.Free Radicals in Brain Pathophysiology, Chapter 18: 383-392, 2000. 
  • Mutations in GFAP, encoding glial fibrillary acidic protein, are ì associated with Alexander disease.Brenner, M., Johnson, A., Boespflug-Tanguy, O., Rodriguez, D., ì Goldman, J. and Messing, A.Nature Genet, 27: 117-120, 2001. 
  • Mutations in GFAP, encoding glial fibrillary acidic protein, are ì associated with Alexander disease.Brenner, M., Johnson, A., Boespflug-Tanguy, O., Rodriguez, D., ì Goldman, J. and Messing, A.Nature Genetics 27: 117-120, 2001. 
  • Mutations in GFAP, encoding glial fibrillary acidic protein, are ì associated with Alexander disease.Brenner, M., Johnson, A.B., Boespfug-Tanguy, O., Rodriguez, D., ì Goldman, J.E. and Messing, A.Nature Genetics 27:117-120, 2001. 
  • GFAP mutations in infantile, juvenile, and adult Alexander ì disease.Li, R., Johnson, A., Salomons, G., Goldman, J., Naidu, S., ì Quinlan, R., Cree, B., Ruyle, S., Banwell, B., D'Hooghe, M., ì Siebert, J., Rolf, C., Cox, H., Reddy, A., González, L., Collins,ì A., Weller, R., Messing, A., van der Knaap, M. and Brenner, M. 
  • Gene expression analysis in mice with elevated glial fibrillary ì acidic protein and Rosenthal fibers reveals a stress response ì followed by glial activation and neuronal dysfunction.Hagemann, T., Gaeta, S., Smith, M., Johnson, D., Johnson, A. and ì Messing, A.Human Molecular Genetics, 14: 2443-2458, 2005. 
  • Glial fibrillary acidic protein mutations in infantile, juvenile,ì and adultfForms of Alexander Disease.Li, R., Johnson, A., Salomons, G., Goldman, J., Naidu, S., ì Quinlan, R., Cree, B., Ruyle, S., Banwell, B., D'Hooghe, M., ì Siebert, J., Rolf, C., Cox, H., Reddy, A., Gutierrez-Solana, L., ì Collins, A., Weller, R., Messing, A., van der Knaap, M., Brenner,ì M.Ann. Neurol. 57: 310-326, 2005. 
  • Propensity for paternal inheritance of de novo mutations in ì Alexander disease.Li, R., Johnson, A., Salomons, G., van der Knaap, M., Rodriguez, ì D., Boespflug-Tanguy, O., Gorospe, J., Goldman, J., Messing, A. ì and Brenner, M.Hum. Genet. 119:137-144, 2006. 
  • Antimicrobial peptide beta-defensin-1 expression is upregulated ì in Alzheimer's brain.Williams, W.M., Torres, S., Siedlak, S.L., Castellani, R.J., ì Pery, G., Smith, M.A. and Zhu, X.J Neuroinflamation 10:127, 2013. 
  • Astrocytic TDP-43 pathology in Alexander DiseaseWalker, A.K., LaPash Daniels, C.M., Goldman, J.E., Trojanowski, ì J.Q., Lee,V. M.-Y., Messing, A.J. Neurosci. 34:6448-6458, 2014. 
  • Astrocytic TDP-43 pathology in Alexander DiseaseWalker, A.K., LaPash Daniels, C.M., Goldman, J.E., Trojanowski, ì J.Q., Lee,V. M.-Y., Messing, A.J. Neurosci. 34:6448-6458, 2014. 
  • ALS
  • Transcription factor p53 in degenerating spinal cords.Eve., D., Dennis, J. and Citron, B.Journal of Brain Research 1150: 174-181, 2007. 
  • Common molecular signature in SOD1 for both sporadic and familialì amyotrophic lateral sclerosis.Gruzman, A., Wood, W., Alpert, E., Prasad, M., Miller, R., ì Rothstein, J., Bowser, R., Hamilton, R., Wood, T., Cleveland, ì D., Lingappa, W. and Liu, J.PNAS 104: 12524-12529, 2007. 
  • Decreased mRNA expression of tight juction proteins in lumbar ì spinal cord of ALS patientsHenkel, J.S., Beers, D.R., Wen, S., Bowser, R., Appel, S.H.Neurology 72(18):1614-1616, 2009. 
  • Impaired blood-brai/spinal cord barrier in ALS patients.Garbuzova-Davis, S. et al.Brain Res. 1469:114-128, 2012. 
  • Metabolic signatures of amyotrophic lateral sclerosis reveal ì insights into disease pathogenesis.Dodge et alPNAS 110:10812-10817, 2013. 
  • Alzheimer's disease
  • Cerebral amyloid angiopathy: amyloid Beta accumulates in ì putative interstitial fuid drainage pathways in Alzheimer's ì Disease.Weller, R., Massey, A., Newman, T., Hutchings, M., Kuo, Y. and ì Roher, A.Amer. J. Pathology, 153: 725-733, 1998. 
  • Amyloid-beta induces chemokine secretion and monocyte migration ì across a human blood-brain barrier model.Fiala, M. Zhang, L., Gan, X., Sherry, B., Taub, D., Graves, M., ì Hama, S., Way, D., Weinand, M., Witte, M., Lorton, D., Kuo, Y. ì and Roher, A.Molecular Medicine, 4: 480-489, 1998. 
  • Elevated low-density lipoprotein in Alzheimer's disease ì correlates with brain A beta 1-42 levels.Kuo, Y., Emmerling, M., Bisgaier, C., Essenberg, A., Lampert, H.,ì Drumm, D. and Roher, A.Biochem. Biophys. Res. Comm. 252: 711-715, 1998. 
  • Opposite roles of apolipoprotein E in normal brains and in ì Alzheimer's disease.Russo, C., Giovanna, A., Dapino, D., Piccini, A., Piombo, G., ì Teller, J., Zaccheo, D., Gambetti, P. and Tabaton, M.Medical Sciences 95:15598-15602, 1998. 
  • High levels of circulating Aß42 are sequestered by plasma ì proteins in Alzheimer's disease.Kuo, Y., Emmerling, M., Lampert, H., Hempelman, S., Kokjohn, T., ì Woods, A., Cotter, R. and Roher, A.Biochem. Biophys. Res. Comm. 257: 787-791, 1999. 
  • Loss of proteins regulating synaptic plasticity in normal aging ì of the human brain and in Alzheimer disease.Hatanpaa, K., Issacs, K.R., Shirao, T., Brady, D.R. and Rapoport,ì S.I.J. Neuropath. Exper. Neurol. 58:637-643, 1999. 
  • High aggregate burden of somatic mtDNA point mutations in aging ì and Alzheimer's disease brain.Lin, M.T., Simon, D.K., Ahn, C.H., Kim, L.M., and Beal, M.F.Human Molecular Genetics 11:133-145, 2002. 
  • High aggregate burden of somatic mtDNA point mutations in aging ì and Alzheimer's disease brain.Lin, M.T., Simon, D.K., Ahn, C.H., Kim, L.M. and Beal, M.F.Human Molecular Genetics 11:133-145, 2002. 
  • The identification and characterization of oxidized RNA in ì Alzheimer's disease.Shan, X., Tashiro, H., and Glenn Lin, C.J. Neuroscience 23: 4913-4921, 2003. 
  • Increased hippocampal neurogenesis in Alzheimer's disease.Jin, K., Peel, A., Mao, X, Xie, L, Cottrell, B., Henshall, D. andì Greenberg, D.PNAS 101: 343-347, 2004. 
  • Accumulation of high molecular weight amylose in Alzheimer's ì disease brains.Huang, L., Hollingsworth, R., Castellani, R. and Zipser, BGlycobiology 14: 409-416, 2004. 
  • Beta-Secretase activity increases with aging in human, monkey andì mouse brain.Fukumoto, H., Rosene, D., Moss, M., Raju, S., Hyman, B. and ì Irizarry, M.Amer. J. Pathology 164: 719-725, 2004. 
  • Accumulation of high-molecular-weight amylose in Alzheimer's ì disease brain.Huang, L., Hollingsworth, R.I., Castellani, R., and Zipser, B.Glycobiology, 14(5): 409-416, 2004. 
  • Differences in chitin-like polymers isolated from normal aged andì Alzheimer's disease brains.Huang, L., Hollingsworth, R., Castellani, R. and Zipser, BSubmitted, 2005. 
  • An RNA-dependent protein kinase is involved in ì tunicamycin-induced apoptosis and Alzheimer's disease.Onuki, R., Bando, Y., Suyama, E., Katayama, T., Kawasaki, H., ì Baba, T., Tohyama, M. and Taira, K.EMBO 23: 959-966, 2004. 
  • Intraneuronal Ab immunoreactivity is not a predictor of brain ì amyloidosis-b or neurofibrillary degeneration.Wegiel, Kuchna, Nowicki, Frackowiak, Mazur-Kolecka, Imaki, ì Wegiel, Mehta, Silverman, Reisberg, DeLeon, Wisniewski, ì Pirttilla, Frey, Lehtimaki, Kivmakj, Visser, Kamphorst, ì Potempska, Bolton, Currie and Miller.Acta Neuropathol. 113: 389-402, 2007. 
  • Activation of caspase-6 in aging and mild cognitive impairment.Albrecht, S., Bourdeau, M., Bennett, D., Mufson, E., ì Bhattacharjee, M and LeBlanc, A.Amer. J. Pathology 170:1200-1209, 2007. 
  • Increased cortical expression of two synaptogenic thrombospondinsì in human brain evolution.Caceres, M., Suwyn, C., Maddox, M., Thomas, J. and Preuss, T.Cerebral Cortex 17:2312-2321, 2007. 
  • Transcription factor Sp1 dysregulation in Alzheimer's Disease.Citron, B., Dennis, J.S. and Zeitlin, R.S.Journal of Neuroscience Research 86: 2499-2504, 2008. 
  • A reevalutation of tetraploidy in the Alzheimer's Disease brain.Westra, J., Barral, S. and Chun, J.Neuro-degenerative Diseases 6:221-229, 2009. 
  • Role of SFRS13A in Low-Density Lipoprotein Receptor SplicingLing, I-F., Estus, S.Human Mutation 31:702-709, 2010. 
  • Direct eveidene of phosphorylated neuronal intermediate filament ì proteins in neurofibrillary tangles (NFTs): phosphorproteomics ofì Alzheimer's NFTsRudrabhatla, P., Jaffe, H. and Pant, H.FASEB J. 25, 3896-3905, (2011) 
  • BACE2 expression increases n human neurodegenerative disease.Hooer, C.J. et al.Amer. J. Pathol. 180:337-350, 2012. 
  • BACE2 Expression Increases in Human Neurodegenerative Disease.Holler et alAm J of Pathology 180: 337-349, 2012 
  • Lysosomal Dysfunction in a Mouse Model of SAndhoff Disease Leads ì to Accumulation of Ganglioside-Bound Amyloid-B Peptide.Keilani et alJ of Neuroscience 32: 5223-5236, 2012 
  • Antimicrobial peptide B-defensin-1 expression is upregulated in ì Alzheimer's brain.Williams, W., Torres, S., Seidlak, S., Castellani, R., Perry, G.,ì Smith, M. and Zhu, X.J of Neuroinflammation 10:127, 2013. 
  • Antimicrobial peptide beta-defensin-1 expression is upregulated ì in Alzheimer's brain.Williams, W.M., Torres, S., Siedlak, S.L., Castellani, R.J., ì Pery, G., Smith, M.A. and Zhu, X.J or Neuroinflamation 10:127, 013. 
  • The Neuroendocrine Protein 7B2 Suppreses the Aggregation of ì Neurodegenerative Disease-related Proteins.Helwig et alJ of Biological Chemistry 288: 1114-1124, 2013. 
  • Potential role of PINK 1 for increased PGC-1a-mediated ì mitochondrial fatty acid oxidation and their associations with ì alzheimer disease and diabetesChoi, K., Ravipati, A., Nimmagadda, V., Schubert, M., Castellani,ì R.J. and Russell, J.W. 
  • The cis-regulatory effect of an Alzheimer's disease-associated ì poly-T locus on expression of TOMM40 and apolipoprotein E genes.Linnertz, C., Anderson, L., Gottschalk, W., et al.Alzheimer's & Dementia, 2014 
  • Potential role of PINK 1 for increased PGC-1a-mediated ì mitochondrial fatty acid oxidation and their associations with ì alzheimer disease and diabetesChoi, J., Ravipati, A., Nimmagadda, V., Schubert, M., Castellani,ì R.J. and Russell, J.W. 
  • Alzheimer's Disease / Down Syndrome
  • Identification of amino-terminally and phosphotyrosine modified ì carboxy-terminal fragments of the amyloid precursor protein in ì Alzheimer's Disease and Down's Syndrome brains.Russo, C., Salis, S., Dolcini, V., Song, X., Teller, J., ì Gambetti, P. and Schettini, G.Neurobiol. Disease 8: 173-188, 2001. 
  • A fibril-specific, conformation-dependent antibody recognizes a ì subset of AB plaques in Alzheimer disease, Down syndrome and ì Tg2576 transgenic mouse brain.Sarsoza, F., Saing, T., Kayed, R., Dahlin, R., Dick, M., ì Broadwater, C., Mobley, S., Lott, I., Doran, E., Gillen, D., ì Anderson, C., Cribbs, D., Glabe, C. and Head, E.Acta Neuropathol. 118:505-517, 2009. 
  • Association between frontal cortex oxidative damage and ì beta-amyloid as a function of age in Down syndrome.Cenini, G., Dowling, A., Beckett, T., Barone, E., Mancuso, C., ì Murphy, M., LeVine, H., Lott, I., Schmitt, F., Butterfield, D. ì and Head, E.Biochimica et Biophysica Acta 1822: 130-138, 2012. 
  • The role of DYRK1A in neurodegenerative diseases.Wegiel, J., Gong, C. and Hwang, Y.FEBS Journal 278: 236-245, 2011. 
  • Evidence that PICALM affects age at onset of Alzheimer's dementiaì in Down Syndrome.Jones et alNeurobiology of Aging, 2013 
  • Impairment of proteostasis network in Down syndrome prior to the ì development of Alzheimer's disease neuropathology: Redox ì proteomics analysis of human brain.Domenico, F., Coccia, R., Cocciolo, A., Murphy, M., Cenini, G., ì Head, E., Butterfield, D., Giorgi, A., Schinina, M., Mancuso, C.,ì Cini, C. and Perluigi, M.Biochimica et Biophsica Acta, 2013 
  • Angelman Syndrome
  • The Angelman syndrome candidate gene, UBE3A/E6-AP, in imprinted ì in brain.Rougeulle, C., Glatt, H. and Lalande, M.Nature Genetics 17:14-15, 1997. 
  • Ataxia
  • Synapses in hereditary ataxias.Koeppen, A.H., Dickson, A.C., Lamarche, J.B. and Robitaille, Y.J. Neuropath. Expt. Neurol. 58:748-764, 1999. 
  • Foamy cells with oligodendroglial phenotype in childhood ataxia ì with diffue central system hypomyelination syndrome.Wong, K., Armstrong, R.C., Gyure, K.A., Morrison, A.L., ì Rodriguez, D., Matalon, R., Johnson, A.B., Wollmann, R., Gilbert,ì E., Le, T.Q., Bradley, C.A., Crutchfield, K. and Schiffmann, R.Acta Neuropathol. 100:635-646, 2000. 
  • Ataxia Telangiectasia
  • Localization and concentration of the Mre11, Rad50, and Nbs1 ì proteins in the nucleus of Bergmann glia, Purkinje neurons, and ì other large neurons of the human brain: implications for the ì pathogenesis of ataxia-telangiectasia-like disorder.Calkins, S., Ahn, J., Marietta, C. and Brooks, P.J.Submitted, 2005 
  • Ataxia-telangiectasia mutated kinase regulates ribonucleotide ì reductase and mitochondrial homeostasis.Eaton, J., Lin, P., Sartorelli, A, Bonawitz, N. and Shadel, G.S.J of Clincal Investigation 117: 2723-2734, 2007. 
  • ATM, the Mre11/RAd50/nBS1 complex, and topoisomerase I are ì concentrated in the nucleus of purkinje neurons in the juvenile ì human brain.Gorodetsky, E., Calkins, S., Ahn, J and Brooks, PJ.DNA Repair 6:1698-1707, 2007. 
  • Progressive loss of genome integrity and aneuploidy in the ataxiaì telangiectasia brain through aging: the cerebrum versus ì cerebellum.Iourov, I., Vorsanova, S., Liehr, T., Kolotii, A., Bereshevea, ì A., Demidova, I., Kravelts, V., Kurinnaya, O., Monakhov, V. and ì Yurov, Y.PNAS, (first choice, in prep) 
  • Aneuploidy in the brain significantly contributes to ì ataxia-telangiectasia and Alzheimer's disease, but less to ì intercellular diversity of the normal human brain.Iourov, I., Vorsanova, S., Liehr, T. and Yurov, Y.Neurobiol. Dis. 34(2):212-220, 2009. 
  • Differential expression of small heat shock protein 27 (Hsp27) inì ataxia telangiectasia brains.Chen, W., Kuizon, S., Chiou, B., Bolton, D., Pullarkat, R. and ì Junaid, M.Neurochem. Res 34: 1658-1667, 2009. 
  • Increased chromosome instability dramatically disrupts neural ì genome integrity and mediates cerebellar degeneration in the ì ataxia-telangiectasia brain.Iourov, I., Vorsanova, S., Liehr, T., Kolotii nd Yurov, Y.B.Human Molecular Genetics 18: 2656-2669, 2009. 
  • Stable brain ATMmessage and residual kinase-active ATM protein inì ataxia-telangiectasiaLi, J., Chen, J., Vinters, H.V., Gatti, R.A. and Herrup, K.J. Neurosci. 31:7568-7577, 2011. 
  • A Novel Role for ATM in Regulating Proteasome-Mediated Protein ì Degradation through Suppression of the ISG15 Conjugation PathwayWood, L., Sanker, S., Reed, R., Haas, A., Liu, L., McKinnon, P. ì and Desai, S.PLoS ONE 6(1): e16422. 
  • Nuclear accumulation of HDAC4 in ATM deficiency mediates ì neurodegeneration in ataxia-telangectasiaLi, J., Chen, J., Ricupero, C., Hart, R., Schwartz, M., Kusnecov,ì A. and Herrup, K.Nature Medicine 18:783-791, 2012. 
  • NADPH oxidase 4 is a critical mediator in ataxia telangiectasis ì diseaseWeyemi, U., Redon, C.E., Aziz, T., Choudhuri, R., Maeda, D., ì Parekh, P.R., Bonner, M., Y., Arbiser, J.L. and Bonner, W.M.PNAS doi/10.107/pnas.1418139112 
  • Ataxia Telangiectasia/ Alzheimer's disease
  • Aneuploidy in the normal Alzheimer's disease and ì ataxia-telangiectasia brain: differential expression and ì pathological meaning.Iourov, I., Vorsanova, S., Liehr, T. and Yurov, Y.Neurobiology of Disease 34: 212-220, 2009. 
  • Autism Spectrum Disorder
  • Altered Posterior Cingulate Cortical Cytoarchitecture, but Normalì Density of Neurons and Interneurons in the Posterior Cingulate ì Cortex and Fusiform Gyrus in Autism.Oblack, A.L., Rosene, D.L., Kemer, T.L., Bauman, M.L. amd Blatt, ì G.J.Autism Res. 4:200-211, 2011. 
  • Cholinergic activity in autism: abnormalities in the cerebral ì cortex and basal forebrain.Perry, E.K., Lee, M.L.W., Martin-Ruiz, C.M., Court, J.A., Volsen,ì S.G., Merrit, J., Folly, E., Iversen, P.E., Bauman, M.L., Perry,ì R.H., Wenk, G.L.Am. J. Psychiatry 158:1058-1066, 2001. 
  • Density and distribution of hippocampal neurotransmitter ì receptors in autism: an autoradiographic study.Blatt, G.J., Fitzgerald, C.M., Guptill, J.T., Booker, A.B., ì Kemper, T.L., Bauman, M.L.J. Autism Dev. Disorder. 31(6): 537-43, 2001 Dec. 
  • Altered levels of Bc12 and p53 proteins in parietal cortex ì reflect deranged apoptotic regulation in autism.Fatemi, S.H. and Halt, A.Synapse 43: 281-284, 2001. 
  • The human aminophospholipid-transporting ATPase gene ATP10C maps ì adjacent to UBE3A and exhibits similar imprinted expression.Herzing, L., Kim, S., Cook, E. and Ledbetter, D.Am. J. Hum. Genet. 68: 1501-1505, 2001. 
  • Functional genomics approaches to a primate model of autistic ì symptomology.Hemby, S.E., Sanchez, M.M. and Winslow, J.T.J. Autism & Devel. Disord. 31:551-555, 2001. 
  • Postmortem brain abnormalities of the glutamate neurotransmitter ì system in autism.Purcell, A.E., Jeon, O.H., Zimmerman, A.W., Blue, M.E., and ì Pevsner, J.Neurology 57: 1618-1628, 2001. 
  • Cholinergic activity in autism: abnormalities in the cerebral ì cortex and basal forebrain.Perry, E.K., Lee, M.L.W., Martin-Ruiz, C.M., Court, J.A., Volsen,ì S.G., Merrit, J., Folly, E., Iversen, P.E., Bauman, M.L., Perry,ì R.H., Wenk, G.L.Am. J. Psychiatry 158:1058-1066, 2001. 
  • Reduction in anti-apoptotic protein Bcl-2 in autistic cerebellum.Fatemi, S.H., Halt, A., Stary, J., Realmuto, G. and ì Jalali-Mousavi, M.Molecular Neuroscience 12: 929-933, 2001. 
  • Density and distribution of hippocampal neurotransmitter ì receptors in autism: an autoradiographic study.Blatt, G.J., Fitzgeral, C.M., Guptill, J.T., Booker, A.N., ì Kemper, T.L. and Bauman, M.L.J. Autism Develop. Disorders 31:537-543, 2001. 
  • Dysregulation of reelin and Bcl-2 proteins in autistic ì cerebellum.Fameti, S.H.., Stary, J.M., Halt, A.R. and Realmuto, G.R.J. Autism Devel. Disorders 31: 529-535, 2001. 
  • Magnetic resonance imaging of the post-mortem autistic brain.Schumann, C., Buonocore, M. and Amaral, D.Journal of Autism and Developmental Disorders, 31: 561-568, 2001. 
  • Assessment of neural cell adhesion molecule (NCAM) in autistic ì serum and postmortem brain.Purcell, A.E., Rocco, M.M., Lenhart, J.A., Hyder, K., ì Zimmerman, A.W., and Pevsner, J.Journal of Autism and Developmental Disorder 31, No 2:183-194, 2001. 
  • Postmortem brain abnormalities of the glutamate neurotransmitter ì system in autism.Purcell, A.E., Jeon, O.H., Zimmerman, A.W., Blue, M.E. and ì Pevsner, J.Neurology 57:1618-1628, 2001. 
  • Allele-specific expression analysis by RNA-FISH demonstrates ì preferential maternal expression of UBE3A and imprint maintenanceì within 15q11-q13 duplications.Herzing, L., Cook, E. and Ledbetter, D.Human Molecular Genetics, 11(15): 1707-1718, 2002. 
  • Purkinje cell size is reduced in cerebellum of patients with ì autism.Fatemi, S.H., Halt, A., Realmuto, G., Earle, J., Kist, D., ì Thuras, P. and Merz, A.Cell. Mol. Neurobiol. 22: 171-175, 2002. 
  • Glutamic acid decarboxylase 65 and 67 kDa proteins are reduced inì autistic parietal and cerebellar cortices.Fatemi, S.H., Halt, A.R., Stary, J.M., Kanodia, R., Schulz, S.C. ì and Realmuto, G.R.Biol. Psychiatry 52:805-810, 2002. 
  • Levels of Bcl-2 and P53 are altered in superior frontal and ì cerebellar cortices of autistic subjects.Araghi-Niknam, M. and Fatemi, S.H.Cellular and Molecular Neurobiology 23: 945-952, 2003. 
  • Neuropathology and alterations in the GABAergic system in autism.Blatt, G.J.J. Devel. Learn. Disord. 7: 57-64, 2003. 
  • Proteomic studies identified a single nucleotide polymorphism in ì glyoxalase I as autism susceptibility factor.Junaid, M., Kowal, D., Barua, M., Pullarkat, P., Brooks, S. and ì Pullarkat, R.Amer. J. Medical Genetics 131A: 11-17, 2004. 
  • Neuroglial activation and neuroinflammation in the brain of ì patients with autism.Vargas, D., Mascimbene, C., Krishnan, C., Zimmerman, A. and ì Pardo, C.Ann. Neurol. 57: 67-81, 2005. 
  • A mixed epigenetic/genetic model for oligogenic Inheritance of ì autism with a limited role for UBE3A.Jiang, Y., Sahoo, T., Michaelis, R., Bercovich, D., Bressler, J.,ì Kashork, C., Liu, Q., Shaffer, L., Schroer, R., Stockton, D., ì Spielman, R., Stevenson, R. and Beaudet, A.Amer. J. Medical Genetics 131A: 1-10, 2004. 
  • Multiple pathways regulate MeCP2 expression in normal brain ì development and exhibit defects in autism-spectrum disorders.Samaco, R., Nagarajan, R., Braunschweig, D. and LaSalle, J.Human Molecular Genetics 13: 629-639, 2004. 
  • Intuition and autism: a possible role for Von Economo neurons.Allman, J., Watson, K., Tetreault, N. and Hakeem, A.Trends in Cognitive Science, 9: 367-373, 2005. 
  • Serum autoantibodies do not differentiate PANDAS and Tourette ì syndrome from controls.Singer, H., Hong, J., Yoon, D., Williams, PNeurology 65: 1701-1707, 2005. 
  • Reelin signaling is impaired in autism.Fatemi, S.H., Snow, A., Stary, J., Araghi-Niknam, M., Reutiman, ì T., Lee, S., Brooks, A. and Pearce, D.Biol. Psychiatry 57: 777-787, 2005. 
  • Stereological estimation of the number of neurons in the human ì amygdaloid complex.Schumann, C.M., and Amaral, D.G.J. Comp. Neurology 491: 320-329, 2005. 
  • Glial fibrillary acidic protein is elevated in superior frontal, ì parietal and cerebellar cortices of autistic subjects.Laurence, J.A. and Fatemi, S.H.Cerebellum 4: 206-210, 2005. 
  • Immunity, neuroglia and neuroinflammation in autism.Pardo, C., Vargas, D. and Zimmerman, A.International Review of Psychiatry, 17: 485-495, 2005. 
  • Reduced minicolumns in the frontal cortex of patients with ì autism.Buxhoeveden, D., Semendeferi, K., Buckwalter, J., Schenker, N., ì Switzer, R. and Courchesne, E.Neuropathology & Applied Neeurobiology 32: 483-491, 2006. 
  • Epigenetic overlap in autism-spectrum neurodevelopmental ì disorders: MECP2 deficiency causes reduced expression of UBE3QA ì and GABRB3.Samaco, R., Hogart, A. and LaSalle, J.Human Molecular Genectics 14: 483-492, 2005. 
  • When is the brain enlarged in autism? A meta-analysis of all ì brain size reports.Redcay, E., and Courchesne, E. 
  • Novel splice isoforms for NLGN3 and NLGN4 with possible ì implications in autism.Talebizadeh, Z., Lam, D., Theodoro, M., Bittel, D., Lushington, ì G. and Butler, M.J. Medical Genetics 2006; 43e21. 
  • Stereological analysis of amygdala neuron number in autism.Schumann, C. and Amaral, D.J. Neurscience, 26: 7674-7679, 2006. 
  • Antibrain antibodies in children with autsim and their unaffectedì siblings.Singer, H., Morris, C., Williams, P., Yoon, D., Hong, J. and ì Zimmerman, A.J. Neuroimmunology 178: 149-155, 2006. 
  • Decreased GAD67 mRNA levels in cerebellar Purkinje cells in ì autism: pathophysiological implications.Yip, J., Soghomonian, J. and Blatt, G.Acta Neuropathol. 113:559-568, 2007. 
  • Minicolumnar abnormalities in autism.Casanova, M., Kooten, I., Switala, A., Engeland, H., Heinsen, H.,ì Steinbusch, H., Hof, P., Trippe, J., Stone, J. and Schmitz, C.Acta Neuropathol. 112:287-303, 2006. 
  • [3H]-Flunitrazepam-labeled benzodiazepine binding sites in the ì hippocampal formation in autism: a multiple concentration ì autoradiographic study.Guptill, J., Booker, A., Gibbs, T., Kemper, T., Bauman, M. and ì Blatt, G.J. Autism Dev. Disord. 37:911-920, 2007. 
  • Lack of evidence of neuropathology in the locus coeruleus in ì autism.Martchek, M., Thevarkunnel, S., Bauman, M., Blatt, G. and Kemper,ì T.Acta Neuropathol. 111:497-499, 2006. 
  • Antibrain antibodies in children with autism and their unaffectedì siblings.Singer, H., Morris, C., Williams, P., Yoon, D., Hong, J. and ì Zimmerman, A.J. Neuroimmuology 178: 149-155, 2006. 
  • Antibodies against fetal brain in sera of mothers with autistic ì children.Singer, H., Morris, C., Gause, C., Gillin, P., Crawford, S. and ì Zimmerman, A.J. Neuroimmunol. 194: 165-172, 2008. 
  • Maternal antibrain antibodies in autism.Zimmerman, A., Connors, S., Matteson, K., Lee, L., Singer, H., ì Castaneda, J. and Pearce, D.Brain, Behavior and Immunity 21: 351-357, 2006. 
  • Expression of phosphodiesterase 4 is altered in the brains of ì subjects with autism.Braun, N., Reutiman, R., Lee, S., Folsom, T. and Fatemi, S.H.NeuroReport 18:1841-1844, 2007. 
  • Neuroinflammation and behavioral abnormalitites after neonatal ì terbutaline treatment in rats: implications for autism.Zerrate, M., Pletnikov, M., Connors, S., Vargas, D., Seidler, F.,ì Zimmerman, A., Slotkin, T. and Pardo, C.J. Pharm. Exper. Ther. 322: 16-22, 2007. 
  • Disruption of cerebral cortex MET signaling in autism spectrum ì disorder.Campbell, D., D'Oronzio, R., Garbett, K., Ebert, P., Mirnics, K.,ì Levitt, P and Persico, A.Ann. Neurol. 62:243-250, 2007. 
  • Antibodies against fetal brain in sera of mothers with autistic ì children.Singer, H.S., Morris, C.M , Gause, C.D., Gillin, P.K, Crawford, ì S. and Zimmerman, A.W.J Neuroimmunol 194: 165-172, 2008. 
  • No reduction of spindle neuron number in frontoinsular cortex in ì autism.Kennedy, D., Semendeferi, K. and Courchesne, E.Brain & Cognition, 64:124-129, 2007. 
  • Evidence for oxidative damage in the autistic brain.Evans, T., Perry, G., Smith, M., Salomon, R., McGinnis, W., ì Sajdel-Sulkowska, and Zhu, X."Autism: Oxidative Stress, Inflamation, and Immune Abnormalities" (Chapt 2) 
  • The autistic phenotype exhibits a remarkably localized ì modification of brain protein by products of free radical-inducedì lipid oxidation.Evans, T., Siedlak, S., Lu, L., Fu., X., Want, Z., McGinnis, W.,ì Fakhoury, E., Castellani, R., Hazen, S., Walsh, W., Lewis, A., ì Salomon, R., Smith, M., Perry, G. and Zhu, X.Amer. J. Biotech. Biochem. 4: 61-72, 2008. 
  • Kinkage, association, and gene-expression analyses identify ì CNTNAP2 as an autism-susceptibilty gene.Alarcon, M., Abrahams, B., Stone, J., Duvall, J., Perederly, J., ì Bomar, J., Sebat, J., Wigler M., Martine, C., Ledbetter, D., ì Nelson, S., Cantor, R. and Geschwind, D.Am. J. Human Genetics 82:150-159, 2008. 
  • SLC25A12 expression is associated with neurite outgrowth and is ì upregulated in the prefrontal cortex of autistic subjects.Lepagnol-Bestel, A., Maussion, G., Boda, B., Carona, A., Iwayama,ì Y., Delezoide, A., Moalic, J., Muller, D., Dean, B., Yashikawa, ì T., Gorwood, P., Buxbaum, J., Ramoz, N. and Simonneau, M.Molecular Psychiatry 13: 385-397, 2008. 
  • The neuropathology of autism: where do we stand?Schmitz, C. and Rezaie, P.Neuropathology and Applied Neurobiology 34: 4-11, 2008 
  • The neuropathology of autism: where do we stand?Schmitz, C. and Pezaie, P.Neuropathology and Applied Neurobiology 34: 4-11, 2008. 
  • MECP2 promotor methylation and X-chromosome inactivation in ì autism.Nagarajan, R., Patzel, K., Martin, M., Yasui, D., Swanberg, S., ì Hertz-Picciotto, I., Hansen, R., Van de Water, J., Pessah, I., ì Jiang, Ruby, Robinson, W. and LaSalle, J.Austism Res. 1(3):169-178, 2008. 
  • The role of neurodevelopmental genes in infections etiology of ì autism.Fatemi, S.H.Am. J. Biochem. and Biotech. 4: 177-182, 2008. 
  • Expression of astrocytic markers aquaporin 4 and connexin 43 is ì altered in brains of subjects with autism.Fatemi, S.H., Folsom T., Reutiman, T. and Lee, S.Synapse 62: 501-507, 2008. 
  • Heterogeneous dysregulation of microRNAs across the autism ì spectrum.Abu-Elneel, K., Gazzaniga, F.S., Nishimura, Y., Wall, D.P., ì Geschwind, D.H., Lao, K. and Kosik, K.S.Neurogenetics 9(3) 153-161, 2008. 
  • Linkage, association and gene-expression analyses identify ì CNTNAP2 as an autism-susceptibility gene.Alarcon, M., Abrahams, B.S., Sone, J.L., Duvall, J.A., Perederly,ì J.V., Bomar, J.M., Sebat, J., Wigler, M., Martin, C.L., ì Ledbetter, D.H., Nelson, S.F., Cantor, R.M., and Geschwind, D.H.Am. J. Hum. Genet. 82(1) 150-159, 2008. 
  • Oxidative stress in autism: elevated cerebellar 3-nitrotyrosine ì levels.Sajdel-Sulkowska, E., Lipinski, B., Windom, H., Audhya, T and ì McGinnis, W.Amer. J. Biochem. Biotech. 4:73-84, 2008. 
  • Microtransplantation of neurotransmitter receptors from ì postmortem autistic brains to Xenopus oocytes.Limon, A., Reyes-Ruiz, J. and Miledi, R.PNAS 105: 10973-10977, 2008. 
  • Neurons in the fusiform gyrus are fewer and smaller in autism.Kooten, I., Palmen, S., Cappeln, P., Steinbusch, H., Korr, H., ì Heinsen, H., Hof, P., Engeland H. and Schmitz, C.Brain 131:987-999, 2008. 
  • Involvement of the PRKCB1 gene in autistic disorder: significant ì genetic association and reduced neocortical gene expression.Lintas, C.,Sacco, R., Garbett, K., Mirnics, K., Militerni, R., ì Bravaccio, C., Curatoli, P., Manzi, B., Schneider, C., Melmed, ì R., Elia, M., Pascucci, T., Puglisi-Allegra, S., Reichelt, K.-L. ì and Persico, A.M.Mol. Psychiatry14:705-718, 2009. 
  • Elevated immune response in the brain of autistic patients.Li, X., Chauhan, A., Sheikh, A., Patil, S., Chauhan, V., Li, X., ì Ji, L., Brown, T. and Malik, M.J of Neuroimmunology 207: 111-116, 2009. 
  • Childhood serum anti-fetal brain antibodies do not predict ì autism.Morris, C.M., Zimmerman, A.W., Singer, H.S.Pediatric Neurology 41: 288-290, 2009. 
  • Genomic and epigenetic evidence for oxytocin receptor defiencey ì in autism.Gregory, S.G., Connelly, J.J.,Towers, A.J., Johnson, J., Biscoho,ì D.,Markunas, C.A.,Lintas, C., Abramson, R.K., Wright, ì H.H.,Ellis, P., Lanford, C.F., Worley, G., Delong, G.R., Murphy, ì S.K., Curraro, M.L., Persico,A. and Pericak-Vance, M.A.BMC Medicine 7:62, 2009. 
  • Childhood serum anti-fetal brain antibodies do not predict ì autism.Morris, C.M., Zimmerman, A. and Singer, H.S.Pediatric Neurology 41: 288-290, 2009 
  • Comment on "Autistic-like phenotypes in Cadps2-knockout mice and ì aberrant CADPS2 splicing in autistic patients" - letter.Eran, A., Graham, K.R., Vatalaro, K., McCarthy,J.,Collins, C., ì Peters, H., Brewster, S.J., Hanson, E., Hundley, R., Rapporport, ì L., Holm, I.A., Kohane, I.S. and Kunkel, L.M.J. Clin. Invest. 119(4) 679-680, 2009. 
  • Imprinting regulates mammalian snoRNA-encoding chromatin ì decondensation and neuronal nucleolar size.Leung, K., Vallero, R., DuBose, A., Resnick, J. and LaSalle, JHuman Molecular Genetics 18: 4227-4238, 2009. 
  • Expression of GABAa receptors is altered in brains of subjects ì with autism.Fatemi, S.H., Folsom, T., Reutiman, T. and Thuras, P.Cerebellum 8: 65-69, 2009. 
  • Increase in cerebellar neurotrophin-3 and oxidative stress ì markers in autism.Sajdel-Sulkowska, E., Xu, M. and Koibuchi, N.Cerebellum 8:366-372, 2009. 
  • GABAa receptor downregulation in brains of subjects with autism.Fatemi, H., Reutiman, R., Folsom, T. and Thuras, P.J Autism Dev Disord 39: 223-230, 2009. 
  • Comment on "Austistic-like phenotypes in CADPS2-knockout mice andì aberrant CADPS2 splicing in autistic patients.Eran, A., Graham, K., Vatalaro, K., McCarthy, J., Collins, C., ì Peters, H., Brewster, S., Hanson, E., Hundley, R., Rappaport, L.,ì Holm, I., Kohane, I. and Kunkel, L.J. Clin. Invest 119: 680-681, 2009. 
  • Common genetic variants on 5p14.1 associate with autism spectrum ì disorders.Wang, K., Zhang, H., Ma, B., et alNature 459: 528-533, 2009. 
  • The neuropathology of autism: defects of neurogenesis, neuronal ì migration and dysplastic changes.Wegiel, J., Kuchna, I., Nowicki, K., Imaki, H., Wegiel, J., ì Marchi, E., Ma, S.Y., Chauhan, A., Chauhan, V., Bobrowicz, T.W.,ì de Leon, M., Saint Louis , Ira, L.A., Cohen, L., London, E., ì Brown, W.T. and Wisniewski, T.Acta Neuropathologica (2010) 119:755-770. 
  • Decreased GABA(B) receptors in the cingulate cortex and fusiform ì gyrus in autism.Oblak, A.L., Gibbs, T.T., Blatt, G.J.J. Neurochem. 114:1414-1423, 2010. 
  • Gene expression signatures in blood distinguish autism spectrum ì disorder and mirror brain expression profiles.Kong, S.W., Collings, C.D., Holm, I., Brewster, S.J., Hanson, E.,ì Harris, H.K., Lower, K.R., Saada, A., Mora, A., Madison, K., ì Hundley, R., McCarthy, J., Egan, J., Galdzicki, M., Rappaport, ì L., Kunkel, L.M. and Kohane, I.S.In submission, 2010. couldn't find May 2013-hrz 
  • Cathepsin D and apoptosis related proteins are elevated in the ì brain of autistic subjects.Sheikh, A, Li,X., Wen, G., Tauqeer, Z., Brown, W. and Malik M.Neuroscience 165:363-370, 2010. 
  • Microglial activation and increased microglial density observed ì in the dorsolateral prefrontal cortex in autism.Morgan, J.T., Chana, G., Pardo, C.A., Achim, C., Semendeferi, K.,ì Buckwalter, J., Courchesne, E., and E. I.P.Biol. Psychiatry 68:368-376, 2010. 
  • RPP25 is developmentally regulated in prefrontal cortex and ì expressed at decreased levels in autism spectrum disorder.Huang, H.S., Cheung, I., and Akbarian, S.Autism Res. 3:1-9, 2010. 
  • Type, topography and sequelae of neuropathological changes ì shaping clinical phenotype in autism. Chapter1 in: "Oxidative ì Stress, Inflammation, and Immune Abnormalities".Wegiel J, Wisniewski T, Chauhan A, Chauhan V, Kuchna I, Nowicki ì K, Imaki H, Wegiel J, Ma SY, Wierzba Bobrowski T, Cohen IL, ì London E, Brown WT. Eds.Abha Chauhan, Ved Chauhan and W. Ted ì Brown.Taylor & Francis/CRC Press, Boca Raton, FL. pp1-34, 2010 (book chapter). 
  • mRNA and protein levels for GABA a4, a5, B1 and GABA bR1 ì receptors are altered in brains from subjects with autism.Fatemi, S.H., Reutiman, T., Folsom, T., Rooney, R., Patel, D., ì Thuras, P.J Autism Dev Disord 40:743-750, 2010. 
  • Mitochondrial dysfunction in autism spectrum disorder: cause or ì effect?Palmieri, L. and Persico, A.M.Biochem. Biophys. Acta 1797:1130-1137, 2010. 
  • Altered calcium homeostasis in autism-spectrum disorders: ì evidence from biochemical and genetic studies of the ì mitochondrial aspartate/glutamate carrier AGC1.Palmieri, L., Papaleo, V., Porcelli, V., Scarcia, P., Gaita, L., ì Sacco, R., Hager, J., Rousseau, F., Curatolo, P., Manzi, B., ì Militerni, R., Bravaccio.C., Trillo, S., Schenieder,C., Melmed, ì R., Elia, M., Lenti, C., Saccani, M., et al. and Persico, A.M.Mol. Psychiatry 15:38-52, 2010. 
  • Association of autism with polomavirus infection in postmortem ì brains.Lintas, C., Altieri, L., Lombard, F., Sacco, R. and Persico, A.M.J. Neurovirol. 16:141-149, 2010. 
  • Oxidative stress and neurotrophin signaling in autism.Sajdel-Sulkowska, E.Chap. 3 in "Autism: Oxidative Stree, Inflamation, and Immune Abnormalities" 
  • BDNF-Akt-Bcl2 antiapoptotic signaling pathway is compromised in ì the brain of autistic subjects.Sheikh, A.M., Malik, M., Wen, G., Chauhan, A., Chauhan, V., Gong,ì C.-X., Liu, F., Brown, W.T. and Li, X.J. Neurosci. Res. 88:2641-2647, 2010. 
  • Microglial activation and increased microglial density observed ì in the dorsolateral prefrontal cortex in autism.Morgan, J.T., Chana, G., Pardo,A.A., Achim, C., Semendeferi, K., ì Buckwalter,J., Courchesne, E., and Everall, I.P.Biol. Psychiatry 68:368-376, 2010. 
  • Alterations in GABAergic Biomarkers in the Autism Brain: Researchì Findings and Clinical ImplicationsBlatt, G. and Fatemi, H.The Anatomical Record 294:1646-1652, 2011. 
  • Brain region-specific deficit in mitochondrial electron transportì chain complexes in children with autismChauhan, A., Gu, F., Essa, M.M., Wegiel, J., Kaur, K., Brown, ì W.T. and Chauhan, V.J. Neurochem. 117(2): 209-220, 2011. doi:10.1111/j.1471-4159.2011. 
  • Brain region-specific deficit in mitochondrial electron transportì chain complexes in children with autism.Chauhan, A., Gu, F., Essa, M.M., Wegiel, J., Kaur, K., Brown, ì W.T. and Chauhan, V.J. Neurochem. 117(2): 209-220, 2011. 
  • Autism associated aberrant MET and FOXP2 expression inhibits ì cortical neuron maturationTomlinson R., West, A.Journal of Clinical Investigation 
  • Increased serotonin axons (immunoreactive to 5-HT transporter) inì postmortem brains from young autism donors.Azmitia, E.C., Singh, J.S., Whitaker-Azmitia, P.Neuropharmacology 60:1347-1354, 2011. 
  • Brain region-specific deficit in mitochondrial electron transportì chain complexes in children with autism.Chauhan, A., Gu, F., Essa, M. et alJ Neurochem 117: 209-220, 2011 
  • Brain Region-Specific Decrease in the Activity and Expression of ì Protein Kinase A in the Frontal Cortex of Regressive Autism.Ji, L., Chauhan, V., Flory, M., Chauhan, A.PLoS ONE 6: e23751, 2011 
  • Dystrophic Serotonin Axons in Postmortem Brains from Young Autismì Patients.Azmitia, E., Singh, J., Hou, X. and Wegiel, J.The Anatomical Record 294: 1653-1662, 2011. 
  • Altered Posterior Cingulate Cortical Cytoarchitecture, but Normalì Density of Neurons and Interneurons in the Posterior Cingulate ì Cortex and Fusiform Gyrus in Autism.Oblack, A.L., Rosene, D.L., Kemer, T.L., Bauman, M.L. amd Blatt, ì G.J.Autism Res. 4:200-211, 2011. 
  • Dysregulation of fragile X mental retardation protein and ì metabotropic glutamate receptor 5 in superior frontal cortex of ì indiviudals with autims: a postmortem brain study.Fatemi, S.H. and Folsom, T.D.Molec. Autism 2:6-11, 2011. 
  • Regulation of Met by FOXP2, Genes Implicated in Highter Cognitiveì Dysfunction and Autism Risk.Mukamel, Z., Konopka, G., Wexler, E., Osborn, G., Dong, H., ì Bergman, M., Levitt, P. and Geschwind, D.Journal of Neuroscience 31(32): 11437-11442, 2011 
  • Upregulation of Ras/Raf/ERK1/2 signaling and ERK5 in the brain ofì autistic subjects.Yang, K., Sheikh, A., Malik, M., Wen, G., Zou, H., Brown, T. and ì Li., X.Genes, Brain and Behavior 
  • Dystrophic Serotonin Axons in Postmortem Brains from Young Autismì Patients.Azmitia, E., Singh, J., Hou, X. and Wegiel, J.The Anatomical Record 294:1653-1662, 2011. 
  • Large-scale methylation domains mark a functional subset of ì neuronally expressed genes.Schroeder, D., Lott, P., Korf, I. and LaSalle, J.Genome Res. 21: 1583-1591, 2011. 
  • Increased copy number for methylated maternal 15q duplications ì leads to changes in gene and protein expression in human corticalì samples.Scoles, H., Urraca, N., Chadwick, S., Reiter, L. and LaSalle, J.Molecular Autism 2: 19, 2011 
  • Abnormal Intracellular Accumulation and Extracellular AB ì Deposition in Idiopathic and Dup15q11.2-q13 Autism Spectrum ì Disorders.Wegiel, J., Fackoweak, J., Mazur-Kolecka, B., et alPLoS ONE 7:e35414 
  • Consensus Paper: Pathological Role of the Cerebellum in Autism.Fatemi, H., Aldinger, K., Ashwoodk,P., Bauman, M., Blaha, C., ì Blatt, G., Chauhan, A., Chauhan, V. et al.Cerebellum 11(3):777-807, 2012. 
  • The Neuropathology of Autism - Review ArticleBlatt, G.Scientifica Vol. 2012, Article 703675 
  • Modeling the functional genomics of autism using human neurons.Konopka, G., Wexler, E., Rosen, E., Mukamel, Z., Osborn, G., ì Chen, L., Lu, D., Gao, F., Gao, K., Lowe, J. and Geschwind, D.Molecular Psyciatry 17:202-214, 2012. 
  • Microglia in the Cerebral Cortex in Autism.Tetreault, Hakeen, A., Jian, S., Williams, B., Allman, E., Wold, ì B., Allman, J.J Autism Deve Disord, doi: 10.1007/s10803-012-1513-0 
  • Differences Between the Pattern of Developmental Abnormalities inì Autism Associated with Duplications 15q11.2-q13 and Idiopathic ì Autism.Wegiel, J., Schanen, C., Cook, E. et al.J Neuropath Exp Neurol 71: 382-397, 2012 
  • Autism: A Neuroepigenetic Disorder.Deth, R., Hodgson, N., Trived, M., Muratore, C. and Waly, M.Autism Science Digest:The Journal of Autismone 3:9-19, 2012. 
  • Levels of Select PCB and PBDE Congeners in Human Postmortem Brainì Reveal Possible Environmental Involvement in 15q11-q13 ì Duplication Autism Spectrum Disorder.Mitchell, M., Woods, R., Chi, L., Schmidt, R., Pessah, I., ì Kostyniak, P., LaSalle, J.Environmental and Molecular Mutagenesis 53: 589-598, 2012. 
  • Reduced Activity of Protein Kinase C in the Frontal Cortex of ì Subjects with Regressive Autism: Relationship with Developmental ì Abnormalities.Ji, L., Chauhan, A. and Chauhan, V.Int J Biol Sci 8: 1075-1084, 2012. 
  • Brain Region-Specific Glutathione Redox Imbalance in Autism.Chauhan, A., Audhya, T. and Chauhan, V.Neurochem Res 37: 1681-1689, 2012. 
  • Consensus Paper: Pathological Role of the Cerebellum in Autism.Fatemi, S., Aldinger, K., Ashwood, P. et alCerebellum 11: 777-807, 2012. 
  • Altered Balance of Proteolytic Isoforms of Pro-Brain-Derived ì Neurotrophic Factor in Autism.Garcia, K., Yu, G., Nicolini, C., et alJ Neuropathol Exp Neurol 71: 289-297, 2012 
  • Evidence of oxidative damage and inflammation associated with lowì glutathione redox status in the autism brain.Rose, S., Melnyk, S., Pavliv, O., Bai, S., Nick, T., Frye, R. andì James, S.Transl Psychiatry (2012) 2, e134 
  • Brain Transcriptional and Epigenetic Association with Autism.Ginsberg, M., Rubin, R., Falcone, T. et alPLoS ONE 7: e44736, 2012. 
  • Aberrant Expression of Long Noncoding RNAs in Autistic BrainZiats, M. and Rennert, O.J Mol Neurosci 49: 589-593, 2013. 
  • Comparative RNA editing in autistic and neurotypical cerebella.Eran, A., Li, J., Vatalaro, K., McCarthy, J., Rahimov, F., ì Collins, C., Markianos, K., Marguiles, D., Brown, E., Calvo, S., ì Kohane, I. and Kunkel, L.Molecular Psychiatry 18:1041-1048, 2013. 
  • Mitochondrial abnormalities in temporal lobe of autistic brain.Tang et alNeurobiology of Disease 54: 349-361, 2013. 
  • The involvement of reelin in neurodevelopmental disorders.Folsom, T.D. and Fatemi, S.H.Neuropharmacology 68:122-135, 2013. 
  • Clinicopathological Stratification of Idiopathic Autism and ì Sutism with 15q11.2-q13 Duplications.Wegiel, J., Schanen, C., Cook, E., et alThe Ns of Autism Spectrum Disorders, Cpt 3.9 
  • Contribution of olivofloccular circuitry developmental defects toì atypical gaze in autism.Wegiel, J., Kuchna, I., Noweicki, K. et alBrain Research 1512: 106-122, 2013 
  • Expression of Non-Protein-Coding Antisense RNAs in Genomic ì REgions Linked to Autism Spectrum Disorders.Velmeshev, D., Magistri, M., and Faghihi, M.A.IMolecuular Autism 2013, 4:32. 
  • Alterations in mitochondrial DNA copy number and the activities ì of electron transport chain complexes and pyruvate dehydrogenase ì in the frontal cortex from subjects with autism.Gu, F., Chauhan, V., Kaur, K., Brown, W.T., LaFauci, G., Wegiel, ì J. and ChauhanTransl. Psychiatry 3:e299, 2013. 
  • Alterations in mitochondrial DNA copy number and the activities ì of electron transport chain complexes and pyruvate dehydrogenase ì in the frontal cortex from subjects with autism.Gu, F., Chauhan, V., Kaur, K., Brown, W.T., LaFauci, G., Wegiel, ì J. and ChauhanTransl. Psychiatry 3:e299, 2013. 
  • Impaired synthesis and antioxidant defense of glutathione in the ì cerebellum of autistic subjects: Alterations in the activitites ì and protein expression of glutathione-related enzymes.Gu, F., Chauhan, V. and Chauhan, A.Free Radical Biol and Medicine 65:488-496, 2013. 
  • Age-Dependent Decrease and Alternative Splicing of Methionine ì Synthase mRNA in Human Cerebral Cortex and an Accelerated ì Decrease in Autism.Muratore, C., Hodgson, N., Trivedi, M., Abdolmaleky, H., Persico,ì A., Lintas, C., De La Monte, S. and Deth, R.PLoS ONE 8: e56927, 2013 
  • Patterning of Regional Gene Expression in Autism: New ComplexityGinsberg, M., Rubin, R., and Natowicz, M.Scientific Reports 3: 1831, 2013. 
  • Eps8 controls dendritic spine density and synaptic plasticity ì through its actin-capping activity.Menna, E., Zambetti, S., Morini, R., et alThe EMBO J 1-15, 2013 
  • Coexpression networks implicate human midfetal deep cortical ì projection neurons in the pathogenesis of autism.Willsey, A.J. et al.Cell 155:997-1007, 2013. 
  • Heparan sulfate deficiency in autistic prostmortem brain tissue ì from the subventricular zone of the lateral ventricles.Pearson et alBehavioural Brain Research 243: 138-145, 2013. 
  • Common DNA methylation alterations in multiple brain regions in ì autism.Ladd-Acosta, C., Hansen, K., Brien, E., Fallin, M. Kaufman, W. ì and Feinberg, A.Molecular Pychiatry, 1-10, 2013. 
  • Epigenetic dysregulation of SHANK3 in brain tissues from ì individuals with autism spectrum disorders.Zhu, L., Wang, X., Li., X., Towers, A., Cao, X., Wang, P., ì Bowman, R., Yang, H., Goldstein, J., Li, Y and Jiang, Y.Human Molecular Genetics 23: 1563-1578, 2014. 
  • GFAP expression and social deficits in transgenic Mice ì overexpressing human sAPPalpha.Bailey, A.R., Hou, H., Song, M., Obregon, D.F., Portis, S., ì Barger, S., Shytle, D., Stock, S., Mori, T., Sanberg, P.G., ì Murphy, T. and Tan, J.Glia 61:1556-1569, 2013. 
  • Complex epigenetic regulation of Engrailed-2 (EN-2) homeiobox ì gene in the autism cerebellum.James, S.J., Shpyleva, S., Melnyk, S., Pavliv, O. and Pogribny, ì I.P.Trans. Psychiatry (2013), e232. 
  • Sex-biased gene expression in the developing brain: implications ì for autism spectrum disorders.Ziats, M.N. and Rennert, O.M.Molecular Autism 4: 10, 2013. 
  • Pharocogenetic inhibition of eIF4E-dependent Mmp9 mRNA ì translation reverses Fragile X syndrome-like phenotypes.Gkogkas, C.G. et al.Cell Reports 9, 1-14, 2014. 
  • Patches of Disorganization in the Neocortex of Children with ì Autism.Stoner, R., Chow, M.L., Boyle, M.P., Sunkin, S.M., Mouton, P.R., ì Roy, S., Wynshaw-Boris, A., Colamarino, S.A., Lein, E.S., and ì Courchesne, E.NEJM 370:1209-1219, 2014. 
  • Loss of mTOR-Dependent Macroautophagy Causes Autistic-like ì Synaptic Pruning DeficitsTang et alNeuron (2014), http://dx.doi.org/10.1016/j.neuron.2014.07.040 
  • Stereoligical study of the neuronal number and volume of 38 brainì subdivisons of subjects diagnosed with autism reveals significanì alterations restricted to the striatum, amygdala and cerebellum.Wegiel, J., Flory, M., Kuchna, I., Nowicki, K., Ma, S.Y., Imaki, ì H., Wegiel, J., Cohen, I.L., London, E., Wisniewski, T. and ì Brown, W.T.Acta Neuropath. Commuications 2: 141, 2014. 
  • Functional characterization of FABP3, 5 and 7 gene variants ì identified is schizophrenia and autism spectrum disorder and ì mouse behavior studies.Shimamoto, C. et al.Human Molecular Genetics, 2014, 1-17. 
  • A highly conserved program of neuronal microexons is misregulatedì in autistic brains.Irimia, M., Weatheritt, R.J., Ellis, J..D., Parikshak, N.N., ì Gonatopoulous-Pournatizis, T., Babor, M., Quesnel-Vallieres, M., ì Tapil, J., Raj, B., O'Hanlon, D., Barrios-Rodiles, M., Sternberg,ì M.J.E., Cordes, S.P., Roth, F.P., Wrana, J.L. and Geschwind, ì D.H.Cell 159:1511-1523, 2014. 
  • Ubiquitin-proteasome dependent degradation of GABA A alpha1 in ì autism spectrum disorder.Crider, A., Pandya, C.D., Peter, D., Ahmed, A.O., and Pillai, A.Molecular Autism 5:45, 2014. 
  • Integrated systems analysis reveals a molecular network ì underlying autism spectrum disorders.Li, J., Shi, M., Ma, Z., Zhao, S., Euskirchen, G., Ziskin, J., ì Urban, A., Hallmayer, J. and Snyder, M.Molec. Syst. Biol. 10:774, 2014. 
  • Family-Bases Clinical Associations and Functional ì Characterization of the Serotonin 2A receptor Gene (HTR2A) in ì Autims Spectrum Disorder.Smith, R.M., Banks, W., Hansen, E. Sadee, W. and Herman, G.E.Autism Research 7(4) 459-467, 2014. 
  • Identification of differentially expressed microRNAs across the ì developing human brain.Ziats, M.N. and Rennert, O.M.Molecular Psychiatry 19: 848-852, 2014. 
  • Allelic expression analysis in the brain suggests a role for ì heterogeneous insults affecting epigenetic processes in autism ì spectrum disorders.Ben-Daive, E., Shohat, S., and Shifman, S.Human Mol. Genetics, 2014, 1-14. 
  • Downregulation of GABA-A receptor protein subunits a6, b2, d, e, ì g2, t, and p2 in superior frontal cortes of subject with autism.Fatemi, S.H., Reutiman, T.J., Folsom, T., Rustan, O.G., Rooney, ì R.J. and Thuras, P.D.J. Autism Dev. Disord. online doi.10.1007/s10803-014-2078-x 
  • Dysregulation of estrogen receptor beta (ERbeta), aromatase ì (CYP19A1), and ER co-activators in the middle frontal gyrus of ì autism spectrum disorders subjects.Crider, A., Thakkar, R., Ahmed, A.O., and Pillai, A.Molecular Autism 5:46, 2014. 
  • Altered glial marker expression in autistic post-mortem ì prefrontal cortex and cerebellum.Edmonson, C., Ziats, M N., and Rennert, O.M.Molecular Autism 5:3, 2014 
  • Protemic analysis of post mortem brain tissue from autism ì patients: evidence for opposite changes in oprefrontal corte and ì cerebellum in synaptic connectivity-related proteins.Broek, J.A.C., Guest,P.C.,Rahmoune, H. and Bahn, S.Molecular Autism 5:41, 2014. 
  • Neuronal nucleus and cytoplasm volume deficit in children with ì autism and volume increase in adolescents and adultsWegiel, J., Flory, M., Kuchna, I., Nowicki, K., Ma, S.Y., Imaki, ì H. Wegiel, J., Frachowiak, J., Kolecka, B.M., Wierzba-Bobrowicz, ì T., London, E., Wisniewski, T., Hof, P.R. ahnd Brown, W.T.Acta Neuropathologica Communications 3:2, 2015. 
  • Autism Spectrum Disorder / Rett Syndrome
  • Homologous pairing of 15q11-13 imprinted domains in brain is ì developmentally regulated but deficient in Rett and autism ì samples.Thatcher, K., Peddada, S., Yasui, D. and LaSalle, J.Human Molecular Genetics 14(6): 785-797, 2005. 
  • Reduced MeCP2 expression is frequent in autism frontal cortex andì correlates with aberrant MECP2 promotor methylation.Nagarajan, R.P., Hogart, A.R., Gwye, Y., Martin, M.R. and ì LaSalle, J.M.Epigenetics 1(4): 172-182, 2006. 
  • Dynamic changes in histone H3 lysine 9 acetylation localization ì patterns during neuronal maturation require MeCP2.Thatcher, K.N. and LaSalle, J.M.Epigenetics 1(1): 24-31, 2006. 
  • 15q11-13 GABAA receptor genes are normally biallelically ì expressed in brain yet are subject to epigenetic dysregulation inì autism-spectrum disorders.Hogart, A., Nagarajan, R.P., Yasui, D.H., Patzel, K.A. and ì LaSalle, J.M.Human Mol. Genetics 16:691-703, 2007. 
  • Reciprocal co-regulation if EGR2 and MECP2 is disrupted in Rett ì syndrome and autism.Swanberg, S., Nagarajan, R., Peddada, s., Yasuiand, D and ì LaSalle, JHuman Mol. Genetics 18(3): 525-534, 2009. 
  • 15q11.2-13.3 chromatin analysis reveals epigenetic regulation of ì CHRNA7 with deficiencies in Rett and autism brain.Yasui, D., Scoles, H., Horike, S., Meguro-Horike, M., Dunaway, ì K., Schroeder, D. and LaSalle, J.Human Molecular Genetics 20:4311-4323, 2011 
  • Comparative DNA methylation among females with neurodevelopmentalì disorders and seizures indentifies TAC1 as a MeCP2 target gene.Aldinger, K.A., Plummer, J.T. and Levitt, P.J. Neurodevelop. Disorders 5:15, 2013. 
  • Transcriptional regulation of the MET receptor tyrosine kinase ì gene by MeCP2 and sex-specific expression in autism and Rett ì syndrome. Plummer, J.T., Evgrafov, O.V., Bergman, M.Y., Fries, M., Haiman, ì C.A.,Levitt, P. and Aldinger, K.A.Transl. Psychiatry 3:e316, 2013. 
  • Autism Spectrum Disorder/Fragile X
  • Metabolic Glutamate Receptor 5 Upregulation in Children with ì Autism is Associated with Underexpressed of Both Fragile X Mentalì Retardation Protein and GABAa Receptor Beta 3 in Adults with ì AutismFatemi, H., Folsom, T., Kneeland, R., Liesch, S.The Anatomical Record 294(1)1635-1645, 2011. 
  • Phosphorylated fragile X mental retardation protein at serinve ì 499, is reduced in cerebellar vermis and superior frontal cortex ì of subjects with autism: impl;ications for fragile X mental ì retardation protein-metabotropic glutamate receptor 5 signaling.Rustan, O.R., Folsom, T.D., Yousefi, M.K. and Fatemi, S.H.Molecular Autism 4:41, 2013. 
  • Impairment of fragile X mental retardation protein-metabotropic ì glutamate receptor 5 signaling and its downstream cognates ì ras-related C3 botulinum toxin substrate 1, amyloid beta A4 ì precursor protein, striatal-enriched protein tyrosine ì phosphatase, and homer 1, in autism: a postmortem study in ì cerebellar vermis and superior frontal cortex. Fatemi, S., Folosom, T., Kneeland, R., et alMolecular Autism 4: 21-38, 2013 
  • Autism Spectrum Disorder/Schizophrenia
  • Prenatal expression patterns of genes associated with ì neuropsychiatric disorders.Birnbaum, R., Jaffe, A.E., Hyde, T.M., Kleinman, J.E. and ì Weinberger, D.R.Amer. J. Psychiatry - In Press 
  • Prenatal expression patterns of genes associated with ì neuropsychiatric disorders.Birnbaum, R., Jaffe, A.E., Hyde, T.M., Kleinman, J.E. and ì Weinberger, D.R.Amer. J. Psychiatry - In Press 
  • Autoimmune Diseases
  • Novel molecular mechanism involving [alpha] 1D (Cav1.3) L-type ì calcium channel in autoimmune-associated sinus bradycardia.Circulation, 111(23): 3034-3041, 2005. 
  • Batten Disease
  • Endoplasmic reticulum stress-induced caspase-4 activation ì mediates apoptosis and neurodegeneration in INCL.Kim, S., Zhang, Z., Hitomi, H. and Mukherjee, A.Hum. Mol. Genet. 15: 1826-1834, 2006. 
  • Palmitoyl-protein thioesterase-1 deficiency leads to the ì activatio of caspase-9 and contributes to rapid neurodegenerationì in INCL.Kim, S., Zhang, Z., Lee, Y and Mukherjee, A.Hum. Mol. Genet., 15: 1580-1586, 2006. 
  • Beckwith-Wiedemann Syndrome
  • A maternally methylated CpG-island in KvLQT1 is associated with aì paternally expressed transcript and loss of imprinting in ì Beckwith-Wiedemann syndrome.Smilinich, N.J., Day, C.D., Fitzpatraick, G.V., Caldwell, G.M., ì Lossie, A.C., Cooper, P.R., Smallwoood, A.C., Joyce, J.A., ì Schofield, P.N., Reik, W., Nicholls, R.D., Weksberg, R., ì Driscoll, D.J., Mahler, E.R., Shows, T.B., and Higgins, J.J.Proc. Natl. Acad. Sci. 96:8064-8069, 1999. 
  • Cancer
  • Interindividual variation in expression of P-glycoprotein in ì normal human liver and secondary hepatic neoplasms.Schuetz, E.G., Furuya, K.N. and Schuetz, J.D.J. Pharmacol. Exper. Therap. 275:1011-1018, 1995. 
  • High-grade human brain tumors exhibit increased expression of ì myelin transcription factor 1 (MYT1), a zinc finger DNA-binding ì protein.Armstrong, R.C., Migneault, A., Shegog, M.L., Kim, J.G., Hudson, ì L.D., and Hessler, R.B.J. Neuropath. Exper. Neurol. 56: 772-781, 1997. 
  • The identification of novel therapeutic targets for the treatmentì of maligant brain tumors.Kroes, R.A., Jastrow, A., McLone, M.G., Yamamoto, H., Colley, P.,ì Kersey, D.S., Yong, V.W., Mkrdichian, E., Cerullo, L., Leestma, ì J. and Moskal, J.R.Cancer Letters 156:191-198, 2000. 
  • BP1, a new homeobox gene, is frequently expressed in acute ì leukemias.Haga, S.B., Fu, S., Karp, J.E., Ross, D.D., Williams, D.M., ì Hankins, W.D., Behm, F., Ruscetti, F.W., Chang, M., Smith, B.D., ì Becton, D., Raimondi, S.C. and Berg, P.E.Leukemia 14:1867-1875, 2000. 
  • Distinct methylation profiles of glioma subtypes.Uhlmann, K., Rohde, K., Zeller, C., Szymas, J., Vognr, S., ì Marczinek, K., Thiel, G., Nürenberg, P. and Laird, P.Int. J. Cancer 106: 52-59, 2003. 
  • The SmoA1 mouse model reveals that Notch signaling is critical ì for the growth and survival of sonic Hedgehog-induced ì medulloblastomas.Hallahan, A., Pritchard, J., Hansen, S., Benson, M., Stoeck, J., ì Hatton, B., Russell, T., Ellenbogen, R., Berntien, I., Beachy, ì Ph. and Olson, J.Cancer Research 64: 7794-7800, 2004. 
  • Novel tumor-specific isoforms of BEHAB/Brevican identified in ì human malignant gliomas.Viapiano, M., Bi, W., Piepmeier, J., Hockfield, S. and Matthews, ì R.Cancer Res. 65: 6726-6733, 2005. 
  • BEHAB/brevican requies ADAMTS-mediated proteolytic cleavage to ì promote glioma invasion.Viapiano, M.S., Hockfield, S., Matthews, R.T.J. Neuro-oncology 88: 261-272, 2008. 
  • The proteoglycan brevican binds to fibronectin after protelytic ì cleavage and promotes glioma cell motility.Hu, B., Kong, L., Matthews, R.T., Viapiano, M.S.J. Biol. Chem. 283: 24848-24859, 2008. 
  • Epigenetics of a tandem DNA repeat: chromatin DNasel sensitivityì and opposite methylation changes in cancers.Tsumagari, K., Qi, L, Jackson, K., Shao, C., Lacey, M. Sowden, ì J., Tawil, R, Vedanarayanana, V. and Ehrlich, M.Nucleic Acids Research 36: 2196-2207, 2008. 
  • Fibulin-3 is uniquely upregulated in malignant gliomas and ì promotes tumor cell motility and invasion.Hu, B., Thirtamara-Rajamani, K.K., Sim, H. and Viapiano, M.S.Mol. Cancer Res. 7: 1756-1770, 2009. 
  • Reduced expression of the hyaluronan and proteoglycan-link ì proteins in malignant gliomas.Sim, H., Hu, B. and Viapiano M.S.J. Biol. Chem. 284: 26547-26556, 2009. 
  • Quantitative analysis of complex glioma cell migration on ì electrospun polycaprolactone using time-lapse microscopy.Johnson, J., Nowicki, M.O., Lee, C.H., Chiocca, E.A., Viapiano, ì M.S., Lawler, S.E. and Lannutti, J.J.Tissue Eng. Part C Methods 15:531-540, 2009. 
  • Extensive somatic L1 retrotransposition in colorectal tumors.Solyom et alGenome Research 22: 2328-2338, 2012 
  • Cerebral-Cerebellar Atrophy
  • Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause ì progressive microcephaly, cerebral-cerebellar atrophy, and ì intractable seizuresZhang, X., Ling, J., Barcia, G., Jing, L., Wu, J., Barry, B.J., ì Mochida, G.H., Hill, R.S., Weimer, J.M., Stein, Q., Poduri, A., ì Partlow, J.N., Ville, D., Dulac, O., Yu, T.W., Munnich, A., ì Colleaux, L., Zon, L.I., Soll, D., Walsh, C.A. and Nabbout, R.The American Journal of Human Genetics 94: 547-558, 2014. 
  • Charcot-Marie-Tooth disease
  • Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.Landoure, G., Zdebik, A.A., Martinez, T.L., Burnett, B.G., ì Stanescu, H.C., Inada, H., Shi, Y., Taye, A.A., Kong, L., Munns, ì C.H., Choo, S.S., Phelps, C.B., Houlden, H., Ludlow, C.L., ì Caterina, M.J., Gaudet, R., Kleta, R., Fischbeck, K.H. and ì Sumner, C.J.Nature Genetics 42(2): 170-174, 2010. 
  • Cockayne Syndrome
  • Blinded by the UV light: How the focus on transcription-coupled ì NER has distracted from understanding the mechanisms of Cockayne ì syndrome neurologic disease.Brooks, P.J.DNA Repair 12:656-671, 2013. 
  • Congenital Long-QT Syndrome
  • Developmentally regulated SCN5A splice variant potentiates ì dysfunction of a novel mutation associated with severe fetal ì arrhythmia.Murphy, L., Moon-Grady, A., Cuneo, B., Wakai, R., Yu, S., Kunic, ì J., Benson, W. and George, A.Heart Rhythm 9:590-597, 2012. 
  • Dementia
  • Immunologic NO synthase: Elevation in severe AIDS dementia and ì induction by HIV-1 gp41.Adamson, D.C., Wildemann, B., Sasaki, M., Glass, J.D., McArthur, ì J.C., Christov, V.I., Dawson, T.M. and Dawson, V.L.Science, 274:1917-1921, 1996. 
  • Relationship between human immunodeficiency virus-associated ì dementia and viral load in cerebrospinal fluid and brain.McArthur, J.C., McClernon, D.R., Cronin, M.F., Nance-Sproson, ì T.E., Saah, A.J., St. Clair, M. and Lanier, E.R.Ann. Neurol. 42:689-698, 1997. 
  • Developing Brain
  • Expression of the HOX genes and HOTAIR in atypical teratoid ì rhabdoid tumors and other pediatric brain tumors.Chakravadhanula, M., Ozols, V. V., Hampton, C.N., Zhou, L., ì Catchpoole, D. and Bhardwaj, R.D.Cancer Genetics, 2014. 
  • Synaptogenesis in human cerebral cortex.Huttenlocher, P.R."Human Behavior and the Developing Brain," Ch 4, p.137, 
  • The MEL1a melatonin receptor gene is expressed in human ì suprachiasmatic nuclei.Weaver, D.R. and Reppert, S.M.NeuroReport 8:109-112, 1996. 
  • Synchronized overproduction of AMPA, Kainate, and NMDA glutamate ì receptors during human spinal cord development.Kalb, R.G. and Fox, A.J.J. Compar. Neurol. 384:200-210, 1997. 
  • Developmental anatomy of prefrontal cortex.Huttenlocher, P.R. and Dabholkar, A.S."Development of the Prefrontal Cortex: Evolution, Neurobiol" book, 1997. 
  • Regional differences in synaptogenesis in human cerebral cortex.Huttenlocher, P.R. and Dabholkar, A.S.J. Compar. Neurol. 387:167-178, 1997. 
  • Immunoblotting patterns of cytoskeletal dendritic protein ì expression in human neocortex.Kaufmann, W.E., Taylor, C.V. and Lishaa, N.A.,Mol. Chem. Neuropathol. 31:235-244, 1997. 
  • Distribution of glutamate transporter subtypes during human brainì development.Bar-Peled, O., Ben-Hur, H. Biegon, A., Groner, Y., Dewhurst, S., ì Furuta, A. and Rothstein, J.D.J. Neurochem. 69:2571-2580, 1997. 
  • Isolation and culture of primary Schwann cells from human fetal ì peripheral nerve.Lopez, T.J. and DeVries, G.H.Experim. Neurol. 158:1-8, 1999. 
  • cDNA cloning, chromosomal localization, and expression analysis ì of human BEHAB/brevicam, a brain specific proteoglycan regulated ì during cortical development and in glioma.Gary, S.C., Zerillo, C.A., Chiang, V.L., Gaw, J.U., Gray, G., andì Hockfield, S.Gene 256:139-147, 2000. 
  • Characterization of Foxp2 and Foxp1 mRNA and protein in the ì developing and mature brain.Ferland, R.J., Cherry, T.J., Preware, P.O., Morrisey, E.E. and ì Walsh, C.A.J. Comp. Neurol. 460: 266-279, 2003. 
  • Expression patterns of epidermal growth factor receptor and ì fibroblast growth factor receptor 1 mRNA in fetal human brain.Fu, L., Abu-Khalil, A., Morrison, R.S., Geschwind, D.H. and ì Kornblum, H.I.J. Compar. Neurology 462: 265-273, 2003. 
  • Mutations in a human ROBO gene disrupt hindbrain axon pathway ì crossing and morphogenesis.Jen, J., Chan, W., Bosley, T., Wan, J., Carr, J., Rub, U., ì Shattuck, D., Salamon, G., Kudo, L., Ou, J., Lin, D., Salih, M., ì Kansu, T., Dhalaan, H., Zayed, Z., MacDonald, D., Stigsby, B., ì Plaitakis, A., Dretakis, E.... Geschwind, D., et al.Science 304: 1509-1513, 2004. 
  • Gene regulation and DNA damage in the ageing human brain.Lu, T., Pan, Y., Kao, S., Li, C., Kohane, I., Chan, J. and ì Yankner, B.Nature 429: 883-891, 2004. 
  • Age-dependent telomere attrition as a potential indicator of ì racial differences in renal growth patterns.Tchakmakjian, L, Gardner, J., Wilson, P., Kimura, M., Skurnick, ì J., Zielke, H.R. and Aviv. A.Nephron Exp Nephrol 98: e82-e88, 2004. 
  • Wnt genes define distinct boundaries in the developing human ì brain: implications for human forebrain patterning.Abu-Khalil, Ful, L, Grove, E., Zecevic, N. and Geschwind, D.J. Comparative Neurology 474: 276-288, 2004. 
  • Developmental lag in superoxide dismutases relative to other ì antioxidant enzymes in premyelinated human telencephalic white ì matter.Folkerth, R., Haynes, R., Borenstein, N., Belliveau, R., ì Trachtenberg, F., Rosenberg, P., Volpe, J. and Kinney, H.J. Neuropath.Experim. Neurology 63: 990-999, 2004. 
  • Early asymmetry of gene transcription in embryonic human left andì right cerebral cortex.Sun, T., Patoine, C., Abu-Khalil, A., Visvader, J., Sum, E., ì Cherry, T., Orkin, S., Geschwind, D. and Walsh, C.Science 308: 1794-1798, 2005. 
  • Development of human visual cortex: a balance between excitatory ì and inhibitory plasticity mechanisms.Murphy, K., Beston, B., Boley, P. and Jones, D.Developmental Psychobiology, 46: 209-221, 2005. 
  • Axonal development in the cerebral white matter of the human ì fetus and infant.Haynes, R., Borenstein, N., Desilva, T., Folkerth, R., Liu, L., ì Volpe, J. and Kinney, H.J. Comparative Neurology 484: 156-167, 2005. 
  • Imaging, anatomical, and molecular analysis of callosal formationì in the developing human fetal brain.Ren, T., Anderson, A., Shen, W., Huang, H., Plachez, C., Zhang, ì J., Mori, S., Kinsman, S. and Richards, L.Anat. Rec. A. Discov. Mol. Cell Evol. Biol. 288A: 191-204, 2006. 
  • NKCC1 transporter facilitates seizures in the developing brain.Dzhala, V., Talos, D., Sdrulla, D., Brumback, A., Mathews, G., ì Benke, T., Delpire, E., Jensen, F and Staley, K.Nature Medicine 11:1205-1213, 2005. 
  • White and gray matter development in human fetal, newborn and ì pediatric brains.Huang, H., Zhang, J., Wakana, S., Zhang, W., Ren, T., Richards, ì L.., Yarowsky, P., Donohue, P., Graham, E., van Zijl, P.C.M. and ì Mori, S.NeuroImage 33: 27-38, 2006. 
  • White and gray matter development in human fetal, newborn and ì pediatric brains.Huang, H., Zhang, J., Wakana, S., Zhang, W., Ren, T., Richards, ì L.., Yarowsky, P., Donohue, P., Graham, E., van Zijl, P.C.M. and ì Mori, S.NeuroImage 33: 27-38, 2006. 
  • X chromosome gene expression in human tissues: male and female ì comparisons.Talebizadeh, Z., Simon, S and Butler, M.Genomics 88: 675-681, 2006. 
  • Developmental regulation of ì a-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid receptor ì subunit expression in forebrain and relationship to regional ì susceptibility to hypoxic/ischemic injury. II. Human cerebral ì white matter and cortex.Talos, D., Follett, P., Folkerth, R., Fishman, R., Trachtenbert, ì F., Volpe. J. and Jensen, F.J. Comparative Neurology 497:61-77, 2006. 
  • White and gray matter development in human fetal, newborn and ì pediatric brains.Huang, H., Zhang, J., Wakana, S., Zhang, W., Ren, T., Richards, ì L.., Yarowsky, P., Donohue, P., Graham, E., van Zijl, P.C.M. and ì Mori, S.NeuroImage 33: 27-38, 2006. 
  • Carbonic anhydrase II in the developing and adult human brain.Kida, E., Palminiello, S., Golabeck, A., Walus, M., ì Wierzba-Bobrowicz, T., Rabe, A., Albertini, G. and Wisniewski, K.J. Neuropathol. Exp. Neurol. 65: 664-674, 2006. 
  • DYX1C1 functions in neuronal migration in developing neocortex.Wan, Y., Paramasivam, M., Thoams, A., Bai, J., Kaminen-Hhola, N.,ì Kere, J., Voskuil, J., Rosen, G., Galaburda, A. and Loturco, J.Neuroscience 143: 515-522, 2006. 
  • Lamin A-dependent nuclear defrects in human aging.Scaffidi, P. and Misteli, T.Science 312: 1059-1063, 2006. 
  • The role of neonatal carnitine palmitoyl transferase deficiency ì type II on proloferation of neuronal progenitor cells and ì layering of the cerebral cortex in the developing brain.Chang, H., and Faust, P.Columbia Undergrad Science Journal, Spring 2007, vol 2, issue 1. 
  • Synaptophysin and postsynaptic density protein 95 in the human ì prefrontal cortex from mid-gestation into early adulthood.Glantz, L., Gilmore, J., Hamer, R., Lieberman, J and Jarskog, L.Neuroscience 149: 582-591, 2007. 
  • Identification of the transciptional targets of FOXP2, a gene ì linked to speech and language, in developing human brain.Spiteri, E., Konopka, G., Coppola G., Bomar, J., Oldham, M., Ou, ì J., Vernes, S., Fisher, S., Ren, B., Geschwind, D.The American Journal of Human Genetics 81: 1144-1157, 2007. 
  • Early rapid rise in EAAT2 expression follows the period of ì maximal seizure susceptibility in human brain.Lauriat, T., Schmeidler, J. and McInnes, L.Neurosci. Lett. 22: 412(1) 89-94, 2007. 
  • DNA methylation in the human cerebral coretx is dynamically ì regulated throughout the life span and involves differentiated ì neurons.Siegmund, K., Connor, C., Campag, M., Long, T., Weisenberger, D.,ì Biniszkiewicz, D., Jaenisch, R., Laird, P. and Akbarian, S.PLoS One, Sept. 2007, issue 9, e895. 
  • Gene expression changes in the course of normal brain aging are ì sexually dimorphic.Berchtold, N.C., Cribbs, D.H., Coleman, P.D., Rogers, J., Head, ì E., Beach, T., Miller, C., Troncoso, J., Trojanowski, J., Zielke,ì H.R.. and Cotman, C.W.PNAS 105(40): 15605-15610, 2008. 
  • Regulation of Complexin 1 and complexin 2 in the Developing Humanì Prefrontal Cortex.Salimi, K., Glantz, L., Hamer, R., German, T., Gilmore, J. and ì Jarskog, L.Synapse 62:273-282, 2008. 
  • A set of differentially expressed miRNAs, inclluding miR-30a-5p, ì act a s post-transcriptional inhibitors of BDNF in prefrontal ì cortex.Mellios, N., Huang, H., Grigorenko, A., Rogaev, E. and Akbarian, ì S.HMG 17: 3030-3042, 2008. 
  • Specific developmental reductions in subventricalar zone ErbB1 ì and ErbB4 mRNA in the human brain.Chong, V., Webster, M., Rothmond, D and Weickert, C.Int. J. Dev. Neurosci. 26:791-803, 2008 . 
  • Gender influences monoallelic expression of ATP10A in human ì brain.Hogart, A., Patzel, K. and LaSalle, J.Hum. Genet. 124: 235-242, 2008. 
  • Anatomical characterization of human fetal brain development withì diffusion tensor magnetic resonance imaging.Huang, H., Xue, R., Zhang, J., Ren, T., Richards, L.J., Yarowsky,ì P., Miller, M.I., Mori, S.Journal of Neuroscience 29(13): 4263-4273, 2009. 
  • Anatomical characterization of human fetal brain development withì diffusion tensor magnetic resonance imaging.Huang, H., Xue, R., Zhang, J., Ren, T., Richards, L.J., Yarowsky,ì P., Miller, M.I. and Mori, S.J. Neuroscience 29:4263-4273, 2009. 
  • Developmental regulation of neural cell adhesion molecule in ì human prefrontal cortex.Cox, E., Brennaman, L, Gable, K., Hamer, R., Glantz, L., ì Lamantia, A., Lieberman, J., Gilmore, J., Maness, P., and ì Jarskog, L.Neuroscience 162: 96-105, 2009. 
  • Neocortical RELN promoter methylation increases significantly ì after puberty.Lintas, C. and Persico, A.M.NeuroReport 21:114-118, 2010. 
  • Developmental regulation and individual differences of neuronal ì H3K4me3 epigenomes in the prefrontal cortex.Cheung, I., Shulha, H.P., Jiang, Y., Matevossian, A., Wang, J., ì Weng, Z., and Akbarian, S.PNAS Early Edition, 2010. 
  • Structure of the fetal brain: What we are learning from ì diffusion tensor imaging.Huang, H. Neuroscientist 16:634-649, 2011. 
  • Imputation of sequence variants for identification of genetic ì risks for Parkinson's disease: A meta-analysis of genome-wide ì association studies.Nalls, M.A., Plagnol, V., Hernandez, D.G., Shrma, M., et al.Lancet 377:641-649, 2011. 
  • Identification of common variants influencing risk of the ì taupathy progressive supranuclear palsy.Hoglinger, G.U., Melhem, N.M., Dickerson, D.W. Sleiman, P.M.A. etì al.Nature Genetics 43(7):699-705, 2011. 
  • A two-stage meta-analysis identifies several new loci for ì Parkinson's disease. PLoS Gwenetics 7(6)PLoS Genetics 7(6):e1002142, 2011. 
  • Single-neuron sequencing analysis of L1 retrotransposition and ì somatic mutation in the human brain.Evrony, G.D., Cai, X., Lee, E., Hills, B., Elhosary, P.C., ì Lehmann, H.S., Parker, J.J., Atabayt, K.D., Gilmore, E.C., ì Poduri, A., Park, P.J. and Walsh, C.A.Cell 151:483-496, 2012. 
  • Genome-wide association study of obsessive-compulsive disorder.Stewart, S.E., Yu, D., Scharf, J.M., Neale, B.M. et al.Mol. Psychiatry 18:788-798, 2012. 
  • Genome-wide association study of Tourette's syndrome.Scharf, J.M., Yu, D., Mathews, C.A., Neale, B.M. et al.Mol. Psychiatry 18:721-728, 2012. 
  • MAPT expression and splicing is differentially regulated by brainì regions: relation to genotype and implication for taupathies.Trabzuni, D., Wray, S., Vandrovcova, J., Ramasamy, A., et al.Molecular Genetics [Internet] 21:4094-4103, 2012. 
  • Prolonged myelination in human neocorticalevolution.Miller, D.J. et al.PNAS 109:16480-16485, 2012. 
  • Coupling diffusion imaging with histological and gene expression ì analysis to examine the dynamics of cortical areas across the ì fetal period of human brain development.Huang, H., Jeon, T., Sedmak, G., Pletikos, M., Vasung, L., Xu, ì X., Yarowsky, P., Richards, L.J., Kostovic, I., Sestan, N. and ì Mori, S.Cerebral Cortex 23:2620-2631, 2013. 
  • Coupling diffusion imaging with histological and gene expression ì analysis to examine the dynamics of cortical areas across the ì fetal period of human brain development.Huang, H., Jeon, T., Sedmak, G., Pletikos, M., Vasung, L., Xu, ì X., Yarowsky, P., Richards, L.J., Kostovic, I., Sestan, N. and ì Mori, S.Cerebral Cortex 23:2620-2631, 2013. 
  • Coupling diffusion imaging with histological and gene expression ì analysis to examine the dynamics of cortical areas across the ì fetal period of human brain development.Huang, H., Jeon, T., Sedmak, G., Pletikos, M., Vasung, L., Xu, ì X., Yarowsky, P., Richards, L.J., Kostovic, I., Sestan, N. and ì Mori, S.Cerebral Cortex 23:2620-2631, 2013. 
  • Coupling diffusion imaging with histological and gene expression ì analysis to examine the dynamics of cortical areas across the ì fetal period of human brain development.Huang, H., Jeon, T., Sedmak, G., Pletikos, M., Vasung, L., Xu, ì X., Yarowsky, P., Richards, L.J., Kostovic, I., Sestan, N. and ì Mori, S.Cerebral Cortex 23:2620-2631, 2013. 
  • Human-specific transcriptional networks in the brain.Konopka, G. et al.Neuron 75:601-617, 2012. 
  • Coupling diffusion imaging with histological and gene expression ì analysis to examine the dynamics of cortical areas across the ì fetal period of human brain development.Huang, H., Jeon, T., Sedmak, G., Pletikos, M., Vasung, L., Xu, ì X., Yarowsky, P., Richards, L.J., Kostovic, I., Sestan, N. and ì Mori, S.Cerebral Cortex 23:2620-2631, 2013. 
  • Prolonged myelination in human neocorticalevolution.Miller, D.J. et al.PNAS 109:16480-16485, 2012. 
  • Integration of GWAS SNPS and tissue specific expression profilingì reveal discrete eQTLs for human traits in blood and brain.Hernandez, D.G., Nalls, M.A., Moore, M., Chong, S. et al.Neurobiology fo Disease 47: 
  • Integration of GEAS NPs and tissue specific expresssion profilingì reveal discrete eQTLs for human traits in blood and brain.Hernandez, 07/15/14..G., Nalls, M.A., Moore, M., Chong, S.,et al.Neurobiology of Disease 47:20-28, 2012. 
  • Genetic comorbidities in Parkinson's disease.Nalls, M.A., Saad, M., Noyce, A.J., Keller, M.F. et al.Hum. Mol. Genet. 22:831-841, 2013. 
  • Widespread sex differences in gene expression and splicing in theì adult human brain.Trabzuni, D., Ramasamy, A., Imran, S. Walker, R., et al.Nature Communication 4:2771, 2013. 
  • Human von economo neurons express transcription factors ì associated with layer V subcerebral projection neurons.Cobos, I. and Seeley, W.W.Cerebral Cortex 2013 doi:10.1093/cercor/bht219 
  • Mosaic copy number variation in human neurons.McConnell, M.J. et al.Science 342:632-637, 2013. 
  • Mosaic copy number variation in human neurons.McConnell, M.J. et al.Science 342:632-637, 2013. 
  • A meta-analysis identifies new loci associated with body mass ì index in individuals of African ancestry.Monda, K.L., Chen, G.K., Taylor, K.C., Palmer, C., et al.Nature Genetics 45(6):450-696, 2013. 
  • Deletions in GRID2 lead to a recessive syndrome of cerebellar ì ataxia and tonic upgaze in humans.Hills, L., Masri, A., Konno, K., et al.Neurology pub online 9-27-13 
  • Dynamics ofoligodendrocyte generation and myelination in the ì human brain.Yeung, M..S.Y., Zdunek, S., Bergmann, O., Bernard, S., Salehpour,ì M., Alkass, K., Perl, S., Tisdale, J., Possnert, G., Brundin, ì L., Druid, H., and Frisen, J.Cell 159:766-774, 2014. 
  • Neurogenesis in the striatum of the adult human brain.Ernst, A., Alkass, K., Bernard, S., Salehpour, M., Peri, S., ì Tisdale, J. Possnert, G, Druid, H. and Frisen, J.Cell 156::1072-1083, 2014. 
  • A unique ion channel clustering domain on the axon initial ì segment of mammalian neurons.King, A.N., Manning, C..F. and Trimmer, J.S.J. Comparative Neurology 522:2594-2608, 2014. 
  • Evolutionarily dynamic alternative splicing of GPR56 regulates ì regional cerebral cortical patterningBae, B., Tietjen, I., Atabay, K.D., Evrony, G.D., Johnson, M.B., ì Asare, E., Wang, P.P., Murayama, A.Y., Im, K., Lisgo, S.N., ì Overman, L., Sestan, N., Chang, B.S., Barkovich, A.J., Grant, ì P.E., Topcu, M., Politsky, J., Okano, H., Piao, X. and Walsh, ì C.A.Science 343: 764-768, 2014. 
  • Evolutionary dynamic alternative splicing of GPR56 regulates ì regional cerebral cortical patterningBae, B., Tietjen, I., Atabay, K.D., Evrony, G.D., Johnson, M.B., ì Asare, E., Wang, P.P., Murayama, A.Y., Im, K., Lisgo, S.N., ì Overman, L., Sestan, N., Chang, B.S., Barkovich, A.J., Grant, ì P.E., Topcu, M., Politsky, J., Okano, H., Piao, X. and Walsh, ì C.A.Science 343: 764-768, 2014. 
  • Unbiased screen for interactions of leucine-rich repeat kinase 2 ì supports a common pathway for sporadic and familial Parkinson ì disease.Beilina, A., Rudenko, I.N., Kaganovich,A.,Civiero, L., Chau, H. ì et al.Proc.Natl. Acad.Sci. USA 111:2626-2631, 2014. 
  • A genome-wide map of hyper-edited RNA reveals numerous new sites.Porath, H.T., Carmi, S. and Levanson, E.Y.Nature Communications In Press 
  • Evolutionarily dynamic alternative splicing of GPR56 regulates ì regional cerebral cortical patterning..Bae, B-I. et al.Science 343:764768, 2014. 
  • Evolutionarily dynamic alternative splicing of GPR56 regulates ì regional cerebral cortical patterning..Bae, B-I. et al.Science 343:764768, 2014. 
  • Developmental Studies
  • HLA-DF,DQ and TCR-Vb gene polymorphisms in post sample rabies ì vaccine-induced encephalomyelitis.Piyasirisilp, S.(Submitted) 
  • Lutein is the predominant carotenoid in infant brain: Preterm ì infants have decreased concentrations of brain carotenoids ì -Manuscript Draft-Vishwanathan, R., Kuchan, M.J., Sen, S. and Johnson, E.J.Journal of Pediatric Gastroenterology & Nutrition 
  • Is there an increased risk of death from natural causes in young ì adult apolipoprotein E epsilon 4 carriers?Reiman, E. 
  • Why do adipocytes make the beta 3-adrenergic receptor?Granneman, J.G.Cellular Signaling 7:9-15, 1995. 
  • Increased expression of 72-kd type IV collagenase (MMP-2) in ì human aortic atherosclerotic lesions.Li, Z., Li, L., Zielke, H.R., Cheng, L., Xiao, R.,Crow, M.T., ì Stetler-Stevenson, W.G., Froehlich , J. and Lakatta, E.G.Amer. J. Path. 148:121-128, 1996. 
  • Human gamma-aminobutyric acid-type A receptor a5 subunit gene ì (GABRA5): characterization and structural organization of the 5' ì flanking region.Kim, Y., Glatt, H., Xie, W., Sinnett, D. and Lalande, M.Genomics 42: 378-387, 1997. 
  • Localization of ADP-ribosylation factor domain protein 1 (ARD1) ì in lysosomes and golgi apparatus.Vitale, N., Horiba, K., Ferrans, V., Moss, J. and Vaughan, M.Proc. Natl. Acad. Sci., 95: 8613-8618, 1998. 
  • Divergently transcribed overlapping genes expressed in liver and ì kidney and located in the 11p15,5 imprinted domain.Cooper, P.R., Smilinich, N.J., Day, C.D., Nowak, N.J., Reid, ì L.H., Pearsall, R.S., Reece, M., Prawitt, D., Landers, J., ì Housman, D.E., Winterpacht, A., Zabel, B.U., Pelletier, J., ì Weisman, B.E., Shows, T.B. and Higgins, M.J.Genomics 48:38-51, 1998. 
  • Traumatic brain injury increases ß-Amyloid peptide 1-42 in ì cerbrospinal fluid.Raby, C., Morganti-Kossmann, M., Kossmann, T, Stahel, P., Watson,ì M., Evans, L., Mehta, P., Spiegel, K., Kuo, Y, Roher, A. and ì Emmerling, M.J. Neurochem. 71: 2505-2509, 1998. 
  • Isolation of Ca2+ channel a1A, a2, and beta subunit segments fromì human spinal cord RNA.Hajela, R.K. and Atchison, W.D.Annals NY Acad. Sci., 841: 115-118, 1998. 
  • A secreted DNA-Binding protein that is translated through an ì internal ribosome entry site (IRES) and distributed in a discreteì pattern in the central nervous system.Kim, J.G., Armstrong, R.C., Berndt, J.A., Kim, N.W. and Hudson, ì L.D.Mol. Cell. Neurosci. 12:119-140, 1998. 
  • Visualization of chemokine binding sites on human brain ì microvessels.Andjelkovic, A., Spencer, D. and Pachter, J.J. Cell Biol. 145: 403-412, 1999. 
  • Infantile hypertrophic cardiomyopathy of glycogenosis type IX: ì isolated cardiac phosphorylase kinase Deficiency.Regalado, J., Rodriguez, M. and Ferrer, P.Pediatric Cardiol. 20: 304-307, 1999. 
  • Activation of a TRPC3-dependent cation current through the ì neurotrophin BDNF.Li, H.-S., Xu, X.-Z.,S. and Montell, C.Neuron 24:261-273, 1999. 
  • Gene expression of Na+/Ca2+ exchanger during development in humanì heart.Qu, Y., Ghatpande, A., El-Sherif, N. and Boutjdir, M.Cardiovasc. Res. 45:866-873, 2000. 
  • Dendritic anomalies in disorders associated with mental ì retardation.Kaufman, W.E. and Moser, H.W.Cerebral Cortex 10:981-991, 2000. 
  • Dendritic anomalies in disorders associated with mental ì retardation.Kaufman, W.E. and Moser, H.W.Cerebral Cortex 10:981-991, 2000. 
  • Binding of antipsychotic drugs to human brain receptors. Focus ì on newer generation compounds.Richelson and Souder, T.Life Sci. 68:29-39, 2000. 
  • Identification of cadherin-11 down-regulation as a common ì response of astrocytoma cells to Transforming Growth Factor-a.Zhou, R. and Skalli, O.Differentiation 66: 165-172, 2000. 
  • Affinity purification and characterization of the zonulin/zonula ì occudens toxin (Zot) receptor from human brain.Lu, R., Wang, W., Uzzau, S., Vigorito, R., Zielke, H.R. and ì Fasano, A.J. Neurochem. 74:320-326, 2000. 
  • Apotosis, neuronal maturation, and neurotrophin expression withinì medulloblastoma nodules.Eberhart, C.G., Kaufmann, W.E., Tihan, T. and Burger, P.C.J. Neuropath. Exp. Neurol. 60: 462-469, 2001. 
  • Subunit composition and novel localization of K+ channels in ì spinal cord.Rasband, M.N. and Trimmer, J.S.J. Comp. Neurol. 429:166-176, 2001. 
  • Transcriptional suppression of the adrenal cortical ì peripheral-type benzodiazepine receptor gene and inhibition of ì steroid synthesis by ginkgolide B.Amri, H., Drieu, K. and Papadopoulos, V.Biochemical Pharmacology 65: 717-729, 2003. 
  • Human ARX gene: genomic characterization and expression.Ohira, R., Zhang, Y.H., Guo, W., Dipple, K., Shih, S.L., Doerr, ì B.L., Huang, B.L., Fu, L.J., Abu-Khalil, A., Geschwind, D. and ì McCabe, E.R.B.Mol. Gen. Met. 77: 179-188, 2002. 
  • Peripheral antigen-expressing cells and autoimmunity.Pugliese, A.Endocrinology and Metabolism Clinics in North America, 31:411-430, 2002. 
  • Human hepatic flavin-containing monooxygenases 1 (FMO1) and 3 ì (FMO3) developmental expression.Sevasti B. Koukouritaki, Pippa Simpson, Catherine K. Yeung, Allanì E. Rettie, and Ronald N. HinesPediatric Research 51:236-243, 2002. 
  • The hyaluronan receptor RHAMM/IHABP in astrocytoma cells: ì expression of a tumor-specific variant and association with ì microtubules.Zhou, R., Wu, X. and Skalli, O.J. of Neuro-Oncology 59: 15-26, 2002. 
  • Elevated gene expression levels destinguish human from non-human ì primate brains.Caceres, M., Lachuer, J., Zapala, M., Redmond, J., Kudo, L., ì Geschwind, D., Lockhart, D., Preuss, T. and Barlow, C.PNAS: 100, 13030-13035, 2003. 
  • Gene stucture and alternative splicing of glycogen synthase ì kinase-3 beta (GSK-3B) in neural and non-neural tissue.Schaffer, B., Wiedau-Pazos, M., and Geschwind, D.Gene 302: 73-81, 2003. 
  • Human hepatic CYP2E1 expression during development. Johnsrud, E., Koukouritaki, S., Divakaran, K., Brunengraber, L., ì Hines, R. and McCarver, D.J. Pharmacol. Expt. Ther. 307:402-407, 2003. 
  • Developmental expression of the major human hepatic CYP3A ì enzymes.Stevens, J., Hines, R., Gu, C., Koukouritaki, B. , Manro, J. ì Tandler, P., and Zaya, M.J. Pharmacol. Expt. Ther. 307: 573-582, 2003. 
  • Genetic variability at the human FMO1 locus: significance of ì basal promoter yin yang 1 element polymorphism (FMO1*6).Hines, R.N., Luo, Z., Hopp, K.A., Cabacungan, E.T., Koukouritaki,ì S.B. and McCarver, D.G. J. Pharmacol. Exp. Therap. 306(3):1210-1218, 2003. 
  • Elevated gene expression levels distinguish human from non-human ì primate brains.Caceres, M., Lachuer, J., Zapala, M., Redmond, J., Kudo, L., ì Geschwind, D., Lockhart, D., Preuss, T. and Barlow, C.PNAS: 100, 13030-13035, 2003. 
  • Phylogenetic changes in the expression of delta opioid receptors ì in spinal cord and dorsal root ganglia.Mennicken, F., Zhang, J., Hoffert, C., Ahmad, S., Beaudet, A., ì and O'Donnell, D.J. Compar. Neurology 465: 349-360, 2003. 
  • High-resolution voxelation mapping of human and rodent brain geneì expression.Singh, R., Brown, V., Chaudhari, A., Khan, A., Ossadtchi, A., ì Sforza, D., Meadors, A., Cherry, S., Leahy, R. and Smith, D.J. Neuroscience Methods 125: 93-101, 2003. 
  • Investigation of different transcript quantitation tools for ì high-throughput mapping of brain gene expression using ì voxelation.Singh, R., Liu, D., Chaudhari, A., Cherry, S., Leahy, R. and ì Smith, D.J. Mol. Histol. 35: 397-402, 2004. 
  • Gene expression profiles in microdissected neurons from human ì hippocampal subregions.Torres-Munoz, J., Waveren, C., Keegan, M., Bookman, R. and ì Petito, C.Molecular Brain Research 127: 105-114, 2004. 
  • Apelin, a new enteric peptide: Localization in the ì gastrointesinal tract, ontogeny, and stimulation of gastric cell ì proliferation and of cholecystokinin secretion.Wang, G., Anini, Y., Wei, W., Qi, X., O'Carroll, A., Mochizuki, ì T., Wnag, H., Hellmich, M., Englanders, E. and Greeley, G.Endocrinology 145: 1342-1348, 2004. 
  • Mutations in a human ROBO gene disrupt hindbrain axon pathway ì crossing and morphogenesis.Jen, Chan, Bosley, Wan, Carr, Rub, Shattuck, Salamon, Kudo, Ou, ì Lin, Salih, Kansu, Dhalaan, Zayed, MacDonald, Stigsby, Plaitakis,ì Dretakis, Gottlob, Pieh, Traboulsi, Wang, Wang, Andrews, Yamada,ì Demer, Karim, Alger, Geschwind, Deller, Sicote, Nelson.Science 304: 1509-1513, 2004. 
  • Agonist-independent nuclear localization of the apelin, ì angiotensin AT, and bradykinin B2 receptors.Lee, D., Lanca, J., Cheng, R., Nguyen, T., Ji, X.,, Gobeil, F., ì Chemtob, S., George, S and O'Dowd.J. Biol. Chem. 279: 7901-7908, 2004. 
  • Alternative processing events in human FMO genes.Lattard, V., Zhand, J. and Cashman, J.Mol. Pharmacol. 65: 1517-1525, 2004. 
  • In vitro characterizaiton of 6-[18F] fluoro-A-85380, a ì high-affinity ligand for a4B2* nicotinic acetylcholine receptors.Gundisch, D., Koren, A., Horti, A., Pavlova, O., Kimes, A., ì Mukhin, A. and London, E.Synapse 55: 89-97, 2004. 
  • Central and peripheral autoantigen presentation in immune ì tolerance.Pugliese, A.Immunology, 111:138-146 
  • NKCC1 transporter facilitates seizures in the developing brain.Dzhala, V., Talos, D., Sdrulla, D., Brumback, A., Mathews, G., ì Benke, T., Delpire, E., Jensen, F. and Staley, K.Nature Medicine 11: 1205-1213, 2005. 
  • Sodium valproate inhibits glucose transport and exacerbates ì Glut1-deficiency in vitro.Wong, H., Chu, T., Lai, J., Fung, K., Y., Fok, Fujii, T. and Ho, ì Y.J. Cellular Biochemistry 96:7775-785, 2005. 
  • The effects of phenytoin and its metabolite ì 5-(4-hydroxyphenyl)-5-phenylydantoin on cellular glucose ì transport.Wong, H., Chu, T., Chan, Y., Fok, T., Fung, L., Fung, K. and Ho, ì Y.Life Sciences 76:1859-1872, 2005. 
  • Embryonic synthesis of the inner limiting membrane and vitreous ì body.Halfter, W., Dong, S., Schurer, B., Ring, C., Cole, G. and Eller ì A.Investigative Ophthalmology & Visual Science, 46: 2202-2208, 2005. 
  • Constitutional aneuploidy in the normal human brain.Rehen, S., Yung, Y., McCreight, M., Kaushal, D., Yang, A., ì Almeida, B., Kingsbury, M., Cabral, K., McConnell, M., Anliker, ì B., Fontanoz, M. and Chun, J.J. Neuroscience 25: 1-5, 2005. 
  • Selective vulnerability of preterm white matter of oxidative ì damage defined by F2-isoprostanes.Back, S., Luo, N., Mallinson, R., O'Malley, J., Wallen, L., Frei,ì B., Morrow, J, Petito, C., Roberts, C., Murdock, G. and Montine,ì T.Ann. Neurol. 58: 108-120, 2005. 
  • Discovery of novel flavin-containing monooygenase 3 (FMO3) singleì nucleotide polymorphisms and functional analysis of upstream ì haplotype variants.Koukouritaki, SB, Poch, MT, Cabacungen, ET, McCarver, DG and ì Hines, RN.Molecular Pharmacology 68(2):383-392, 2005. 
  • Variability of CYP3A7 expression in human fetal liver.Leeder, J., Gaedigk, R., Marcucci, K., Gaedigk, A., Vyhlidal, C.,ì Schindel, B. and Pearce, R.J. Pharmacol. Exp. Ther. 314: 626-635, 2005. 
  • Selective Vulnerability of Preterm White Matter to Oxidative ì Damage Defined by F2-Isoprostanes.Back, S., Luo, N., Mallinson, R., O'Malley, J., Wallen, L., Fei, ì B., Morrow, J., Petito, C., Roberts, C., Murdock, G. and Montine,ì T.Amer. Neurological Association, 58: 108-120, 2005. 
  • Early asymmetry of gene trascription between embryonic human leftì and right cerebral cortex.Sun, T., Patoine, C., Abu-Khalil, A., Visvader, J., Sum, E., ì Cherry, T., Orkin, S., Geschwind, D., and Walsh, C.Science 308(5729): 1794-1798. 
  • Identification and characterization of novel sequence variations ì in the cytochrome P4502D6 (CYP2D6) gene in African Americans.Gaedigk, A., Bhathena, A., Ndjountche, L., Pearce, R., ì Abdel-Rahman, S., Alander, S., Bradford, L. and Leeder, S.Pharacogenomics J. 5: 173-182, 2005. 
  • Biotransformation of fluticasone: in vitro characterization.Pearce, R., Leeder, J. and Kearns, G.Drug Metab. Disp. 34: 1035-1040, 2006. 
  • Tryptophan hydroxylase 2 (TPH2) haplotypes predict levels of TPH2ì mRNA expression in human pons.Lim, J., Pinsonneault, J., Sadee, W. and Saffen, D.Molecular Psychiatry 1-11, 2006. 
  • Nuclear receptor expression in fetal and pediatric liver: ì correlation with CYP3A expression.Vyhlidal, C., Gaedigk, R. and Leeder, J.Drug Metab Disp 34: 131-137, 2006 
  • CYP2D7 splice variants in human liver and brain: does CYP2D7 ì encode functional protein?Gaedigk, A., Gaedigk, R. and Leeder, J.Biochem. Biophys. Res. Commun. 336: 1241-1250, 2005. 
  • Dendritic architecture of the von Economo neurons.Watson, K.K., Jones, T.K. and Allman, J.M.Neuroscience, 141(3):1107-12, 2006. 
  • Allelic expression of serotonin transporter (SERT) mRNA in human ì pons: lack of correlation with the polymorphism SERTLPR.Lim, J., Papp, A., Pinsonneault, J., Sadée, W. and Saffen, D.Molecular Psychiatry, 1-14, 2006. 
  • Variability of CYP2J2 expression in human fetal tissues.Gaedigk, A., Baker, D., Total, R., Gaedigk, R., Pearce, R., ì Vyhlidal, C., Zeldin, D. and Leeder, S.JPET 319: 523-532, 2006. 
  • CYP2D6*36 gene arrangements within the CYP2D6 locus: association ì of CYP2D6*36 with poor metabolizer status.Gaedigk, A., Bradford, L., Alander, S. and Leeder, J.Drug Metab Disp 34: m563-569, 2006. 
  • Genetic Analysis of Anterior-Posterior Expression Gradients in ì the Developing Mammalian Forebrain.Kudo, L.C., Karsten, S., Chen, J., Levitt, P. and Geschwind, D.Cerebral Cortex 17:2108-2122, 2007. 
  • Pathogen specificity and autoimmunity are distinct features of ì antigen-driven immune responses in neuroborreliosis.Kuenzle, S., Budingen, H., Meier, M., Harrer, M., Urich, E., ì Becher, B. and Goebels, N.Infection and Immunity 75: 3842-3847, 2007. 
  • Cartilage-selective genes identified in genome-scale analysis of ì non-cartilage and cartilage gene expression.Chen, Z., Nelson, S. and Cohn, D.BMC Genomics 8:165-178, 2007. 
  • Neurexin 3 polymorphisms are associated with alcohol dependence ì and altered expression of specific isoforms.Hishimoto, A., Liu, Q, Drgon, T., Pletnikova, O., Walther, D., ì Zhu, X., Troncoso, J and Uhl, G.Hum. Mol. Genet. 16: 2880-2891, 2007. 
  • Synaptophysin and postsynaptic density protein 95 in the human ì prefrontal cortex from mid-gestation into early adulthood.Glantz, L., Gilmore, J., Hamer, R., Lieberman, J. and Jarskog, L.Neuroscience 149: 582-591, 2007. 
  • Interindividual variability in acetaminophen sulfation by human ì fetal liver: implications for pharmacogenetic investigations ofì drug-induced birth defects.Adjei, A., Gaedigk, A., Simon, S., Weishilbourm, R. and Leeder, ì S.Birth Defects Research (part A): Clin. & Mol. Teratology 82:155-165, 2008. 
  • Application of pharmacogenomic strategies to the study of ì drug-induced birth defects.Leeder, J. and Mitchell, A.Clinical Pharmacology & Therapeutics 81: 595-599. 2007. 
  • Genome-wide analyses of human perisylvian cerebral cortical ì petterningAbrahams, B., Tentler, D., Perederiy, J., Oldham, M., Coppola, G.ì and Gecshwind, D.PNAS 104: 17849-17854, 2007 
  • Severe human Lower respiratory tract illness caused by ì respiratory syncytial virus and influenza virus is characterized ì by the absence of pulmonary cytotoxic lymphocyte responses.Welliver, T., Garafalo, R., Hosakote, Y., Hintz, K., Avendana, ì L., Sanchez, K., Velozo, L., Jafri, H., Chavez-Bueno, S., Ogra, ì P., McKinney, L., Reed, J. and Welliver, R.JID 195: 1126-1136, 2007. 
  • Comparison of X-chromosome inactivaiton patterns in multiple ì tissues from human females.Bittel et alJ Med Genet 45: 309-313, 2008 
  • A common polymorphism decreases low-density lipoprotein receptor ì exon 12 splicing efficiency and associates with increased ì cholesterol.Zhu, H., Tucker, M., Grear, K., Simpson, J., Manning, A., ì Cupples. L. and Estus, S.Human Molecular Genetics 16: 1765-1772, 2007 
  • Macrophage impairment underlies airway occlusions in primary ì respiratory syncytial virus bronchiolitis.Reed, J., Brewah, Y., Delaney, T., Williver, T., Burwell, T., ì Benjamin, E., Kuta, E., Kozhich, A., McKinney, L., Suzich, J., ì Kiener, P., Avendano, L, Velozo, L., Hubles, A., Welliver, R. andì Coyle, A.JID 198: 1783-1793, 2008. 
  • Cyclin D1 in exitatory neurons of the adult brain enhances ì kainate-induced neurotoxicity.Koeller, H., Ross, E. and Glickstein, S.Neurobiology of Disease 31: 230-241, 2008. 
  • Ocular motor anatomy in a case of interrupted saccades.Rucker, J., Leigh, R., Opitican, L., Keller, E., ì Buettner-Ennever, J.Prog. Brain Res. 171:563-566, 2008. 
  • KCNE4 can co-associate with the Iks (KCNQ1-KCNE1) channel ì complex.Manderfield, L. and George, A.FEBS 275: 1336-1349, 2008. 
  • Origin and turnover of ECM proteins from the inner limiting ì membrane and vitreous body.Halfter, W., Dong, S., Dong, A., Eller, A. and Nischt, R.Eye 1-7, 2008. 
  • Anatomical Characterization of Human Fetal Brain Development withì Diffusion Tensor Magnetic Resonance ImagingHuang, H., Xue, R., Zhang, J., Ren, T., Richards, L.J., Yarowsky,ì P., Miller, M.I., Mori, S.Journal of Neuroscience 29(13): 4263-4273, 2009 
  • Notch-1 signalling is activated in brain arterivenous ì malformations in humans.ZhuGe, Q., Zhong, M., Zheng, W., Yang, G., Mao, X., Xie, L., ì Chen, G., Chen, Y., Lawton, M.T., Young, W.L., Greenberg, D.A. ì and Jin, K.Brain - A Journal of Neurology 132: 3231-3241. 
  • Anatomical characterization of human fetal brain development withì diffusion tensor magnetic resonance imaging.Huang, H., Xue, R., Zhang, J., Ren, T., Richards, L.J., Yarowsky,ì P., Miller, M.I. and Mori, S.J. Neuroscience 29(13): 4263-4273, 2009. 
  • Human-specific transcriptional regulation of CNS development ì genes by FOXP2.Konopka, G., Boman, J., Winden, K., Coppola, G., Jonsson, Z., ì Gao, F., Peng, S., Preuss, T. Wohlschlegel, J. and Geschwind, ì D.H.Nature 462: 213-218, 2009 
  • miR-802 regulates human angiotensin II type 1 receptor expressionì in intestinal epithelial C2BBe1 cellsSansom, S., Nuovo, G., Martin, M., Kotha, S., Parinandi, N., ì Elton, T.Am J Physiol Gastrointest Liver Physiol. 299: G632-G642, 2010. 
  • Abundant quantitative trait loci exist for DNA methylation and ì gene expression in human brain.Gibbs, R., van der Brug, M., Hernandez, D, Traynor, B., Nalls, ì M., Lai, S., Arepalli, S., Dillman, A., Rafferty, I., Troncoso, ì J., Johnson, R., Zielke, H.R., Ferrucci, L., Longo, D., Cookson, ì M. and Singleton, A.PLOS Genetics, 2010, 6(5): e1000952, 2010. 
  • A role for Wnt signaling genes in the pathogenesis of impaired ì lung function in asthmaSharma, S., Tantisira, K., Carey, V., Murphy, A., Lasky-su, J., ì Celedon, J., Lazrus, R., Klanderman, B., Rogers, A., Soto-Quiros,ì M., Avila, L., Mariani, T., Gaedigk, R., Leeder, S., Torday, J.,ì Warburton, D., Raby, B., Weiss, S.Am J Respir Crit Care Med 181: 328-336, 2010. 
  • Sex-specific effects of scavenger receptor class B type 1 (SR-BI)ì gene variants on serum lipid levels and hepatic gene expression.Chiba-Falek, O., Nichols, M., Suchindran, S., Guyton, J., ì Ginsburg, G., Barrett-Connor, E. and McCarthy, J.BMC Med Gene 11:9, 2010. 
  • SCN5A allelic expression imbalance in Afican-Americans ì heterozygous for the common variant p.Ser1103Tyr.Killen S., Kunic, J., WAng, L., Lewis, A., Levy, B., Ackerman, M.ì and George, A.BMC Med. gen. 11:74-78, 2010. 
  • Transcriptomic analysis of human lung developmentKho, A., Bhattacharya, S., Tantisira, K., Carey, V., Gaedigk, R.,ì Leeder, S., Kohane, I., Weiss, S., Mariani, T.Am J Respir Crit Care Med 181:54-63. 2010. 
  • Novel neuronal proteolipid protein isoforms encoded by the human ì myelin proteolipid protein 1 gene.Sarret, C., Combes, P., Micheau, P., Gelot, A., Boespflug-Tanguy,ì O. and Vaurs-Barriere, C.Neuroscience 166: 522-538, 2010. 
  • Age-dependent changes in the structure, composition and ì biophysical properties of a human basement membrane.Candiello, J., Cole, G.J., Halfter, W.Matrix Biology, 29(5):402-10, 2010. 
  • Abundant quantitative trait loci exist for DNA methylation and ì gene expression in human brain.Gibbs, R., van der Brug, M., Hernandez, D, Traynor, B., Nalls, ì M., Lai, S., Arepalli, S., Dillman, A., Rafferty, I., Troncoso, ì J., Johnson, R., Zielke, H.R., Ferrucci, L., Longo, D., Cookson, ì M., Singleton, A.PLOS Genetics, 2010, 6(5): e1000952. 
  • Abundant quantitative trait loci exist for DNA methylation and ì gene expression in human brain.Gibbs, R., van der Brug, M., Hernandez, D, Traynor, B., Nalls, ì M., Lai, S., Arepalli, S., Dillman, A., Rafferty, I., Troncoso, ì J., Johnson, R., Zielke, H.R., Ferrucci, L., Longo, D., Cookson, ì M., and Singleton, A.PLOS Genetics, 2010, 6(5): e1000952. 
  • Abundant quantitative trait loci exist for DNA methylation and ì gene expression in human brain.Gibbs, R., van der Brug, M., Hernandez, D, Traynor, B., Nalls, ì M., Lai, S., Arepalli, S., Dillman, A., Rafferty, I., Troncoso, ì J., Johnson, R., Zielke, H.R., Ferrucci, L., Longo, D., Cookson, ì M. and Singleton, A.PLOS Genetics, 2010, 6(5): e1000952. 
  • Prion Protein Expression and Functional Importance in Skeletal ì Muscle.Smith, J., Moylan, J., Hardin, B., Chambers, M., Estus, S., ì Telling, G. and Reid, M.Antioxid Redox Signal 15: 2465-2475, 2011. 
  • Temporal dynamics and genetic control of transcription in the ì human prefrontal cortex.Colantuoni, C., Lipska, B., Ye, T., Hyde, T., Tao, R., Leek, J., ì Colantuoni, E., Elkahloun, A., Herman, M., Weinberger, D. and ì Kleinman, J.Nature 478: 519-524, 2011 
  • Spatiotemportal transcriptome of the human brainKang et al.Nature 478:483-489, 2011. 
  • Betaine-homocysteine methyltransferase: Human liver ì genotype-phenotype correlationFeng, Q., Kalari, K., Fridley, B., Jenkins, G., Ji, Y., Abo, R., ì Hebbring, S., Zhang, J., Nye, M., Leeder S., Weinshilboum, R.Molecular Genetics and Metabolism 102:126-133, 2011. 
  • DNA Methylation Signatures in Development and Aging of the Human ì Prefrontal CortexNumata, S., Ye, T., Hyde, T., Guitart-Navarro, X., Tao, R., ì Wininger, M., Colantuoni, C., Weingerger, D., Kleinman, J. and ì Lipska, B.Am J of Hum Gen 90: 260-272, 2012 
  • Prolonged myelination in human neocortical evolution.Miller, D.J., Duka, T., Stimpson, C.D., Schapiro, S.J., Baze, ì W.B., McArthur, M.J., Fobbs, A.J., Sousa, A.M.M., Sestan, N., ì Wildman, D., Lipovich, L., Kuzawa, C.W., Hof, P.R. and Sherwood, ì C.C.PNAS 109: 16480-16485, 2012 
  • Human-specific transcriptional networks in the brain.Konopka, G., Friedrich, T., Davis-Turak, J., Winden, K., Oldham, ì M., Gao, F., Chen, L., Wang, G., Luo, R., Preuss, T. and ì Geschwind, D.Neuron 75: 601-617, 2012 
  • New NBIA subtype: Genetic, clinical, pathologic, and ì readiographic features of MPAN.Hogarth, P., Gregory, A., Kruer, M., Sanford, L., Wagoneer, W. etì al.Neurology 80: 268-275, 2013. 
  • Evolution of the human-specific microRNA miR-941.Hui, H.Y., He, L., Forminykh, K., Yan, Z., et al.Nature Communications 3:1145, 2012. 
  • Expression of Organic Anion Transporter 2 in the Human Kidney andì Its Potential Role in the Tubular Secretion of ì Guaninie-Contaiing Antiviral Drugs.Cheng, Y., Vapurcuyan, A., Shahidullah, M., Aleksunes, L. and ì Pelis, R.Drug Metab Dispos. 40:617-624, 2012. 
  • Mucosal antibody responses are directed by viral burden in ì children with acute influenza infection.He, Y., Abid, A., Fisher, R., Eller, N., Mikolajczyk, M., ì Welliver R., Bonner, A., Scott, D. and Reed, J.Influenza and Other Respiratory Viruses March 8:1750-2659, 2012. 
  • Von Willebrand Factor permeates small vessels in CADASIL and ì inhibits smooth muscle gene expression.Zhang, X., Meng, H., Blaivas, M., et alTransl Stroke Res 3: 138-145, 2012 
  • Divergent Whole-Genome Methylation Maps of Human and Chimpanzee ì Brains Reveal Epigenetic Basis of Human Regulatory Evolution.Zeng, J., Konopka, G., Hunt, B., Preuss, T., Geschwind, D.H. and ì Yi, S.The American J of Human Genetics 91: 455-465, 2012 
  • RBFOX1 regulates both splicing and transcriptional networks in ì human neuronal development.Fogel, B.L., Wexler, E., Wahnich, A.,, Friedrich, T., ì Vijayendran, C., Gao, F., Parikshak, N., Konopka, G. and ì Geschwind, D.Human Molecular Genetics 21: 4171-4186, 2012 
  • Human-Specific Transcriptional Networks in the Brain.Konopka, G., Friedrich, T., Davis-Turak, J., Winden, K., Oldham, ì M.C., Gao, F., Chen, L., Wang, G., Luo, R., Preuss, T. and ì Geschwind, D.H.Neuron 75: 601-617, 2012 
  • The Allen Human Brain Atlas: Comprehensive gene expression ì mapping of the human brain.Shen, E., Overly, C. and Jones, A.Trends in Neurosciences 35: 12, 2012 
  • Prenatal and postnatal expression of glutathione transferase 1 inì human liver and the roles of haplotype and subject age in ì detemining activity with dichloroacetate.Li, W., Gu, Y., James, M.O., Hines, R.N., Simpson, P., Langaee, ì T., and Stacpoole, P.W.Aspect Drug Metabolism and Disposition 40: 232-239, 2012. 
  • Bidirectional encroachment of collagen into tthe tunica media in ì cerebral autosomal dominant arteriopathy with subcortical ì infarcts and leukoencephalopathy.Don, H., Blaivas, M and Wang, M.Brain Res 1456: 64-71, 2012 
  • The role of CYP3A4 mRNA transcript with shortened 3'-untranslatedì region in hepatocyte differentiation, liver development, and ì response to drug induction.Li, D., Gaedigk, R., hart, S.N., Leeder, J.S., and Zhong, X-b.Molec. Pharmacol. 81:86-96, 2012. 
  • Coupling Diffusion Imaging with Histological and Gene Expression ì Analysis to Examine the Dynamics of Cortical Areas acress the ì Fetal Period of Human Brain Development.Huang, H., Jeon, T., Sedmak, G., Pletikos, M., Vasung, L., Xu, ì X., Yarowsky, P., Richards, L., Kostovic, I., Sestan, N. and ì Mori, S.Cerebral Cortex, 2012 
  • Widespread splicing changes in huamn brain development and agingMazin, P., Xiong, J., Liu, X., Yan, Z., Zhang, X., Li, M., He, ì L., Somel, M., Yuan, Y., Chen, Y.P., Li, N., Hu, Y., Fu, N., ì Ning, Z., Zeng, R., Yang, H., Chen, W., Gelfand, M. and ì Khaitovich, P.Molecular Systems Biology 9: 633, 2013 
  • Genome-wide meta-analysis identifies new susceptibility loci forì migraine.Anttila, V., Winsvold, B.S., Gormley, P., Kurth, T., Bettella, ì F., McMahon, G., et al.Nature Genetics 45(8):912-913, 2013. 
  • Resolving the polymorphism-in-probe problem is critical for ì correct interpretation of expression of QTL studies.Ramasamy, A., Trabzuni, D., Gibbs, J.R., et al.Nucleic Acid Res. 41(7):e88, 2013. 
  • Exceptional evolutionary divergence of human muscle and brain ì metabolomes parrallels human cognitive and physical uniquenessBoze, K., Wei, Yl, Liu, Z. et al.PLOS 12(5) e1001871. 2014. 
  • Loss of NG2+ glia drives develoment of depressive behavior.Birey, F., Kloc, M., Christoffel,D.J., Chen, T.,Wilson, M., ì Frohman, M.A., Robinson, J.K., Russo, S.J., Maffei, A. and ì Aguirre, A.Submitted 
  • Gaining insight of fetal brain development with diffusion MRI andì histology.Huang, H. and Vasung, L.International Journal of Developmental Neuroscience 
  • Chloride and other anions inhibit dichloroacetate-induced ì inactivation of human liver GSTZ1 in a haplotype-dependent ì manner.Zhong, G., Li, W., Langaee, T., Stacpoole, P.W., and James, M.O.Chemico-Biological Interactions 215: 33-39, 2014. 
  • Decreased hippocampal volume and increased anxiety in a ì transgenic mouse model expressing the human CYP2C19 gene.Persson, A., Sim, SC., Onishchenko, N., Schulte, G., and ì Ingelman-Sundberg, M.Molecular Psychiatry 19: 733-741, 2014. 
  • Evolution of human longevity uncoupled from caloric restriction ì mechanismsZhao, G., Guo, S., Somel, M. and Khaitovich, P.PLOS 9(1): e84117, 2014 
  • Developmental Studies - Interspecies Comparison
  • Analysis of human and rodent beta 3-adrenergic receptor messengerì ribonucleic acids.Granneman, J.G. and Lahners, K.N.Endocrinology 135:1025-1031, 1994. 
  • Fluoro jade stains early and reactive Aatroglia in the primate ì cerebral cortex.Colombo, J. and Puissant, V.J. Histochem. Cytochem. 50(8): 1135-1137, 2002. 
  • Conservation of the developmentally regulated dendritic ì localization of a purkinje cell-specific mRNA that encodes a ì G-protein modulator: comparison of rodent and human Pcp(L7) gene ì structure and expression.Zhang, X, Zhang, H. and Oberdick, J.Molecular Brain Research 105:1-10, 2002. 
  • Distribution of class I, III and IV alcohol dehydrogenase mRNAs ì in the adult rat, mouse and human brain.Galter, D., Carmine, A., Beurvenich, S., Duester, G. and Olson, ì L.Eur. J. Biochem. 270: 1316-1326, 2003. 
  • Elevated gene expression levels distinguish human from non-human ì primate brains.Caceres, M., Lachuer, J., Zapala, M., Redmond, J., Kudo, L., ì Geschwind, D., Lockhart, D., Preuss, T. and Barlow, C.PNAS, 100: 13030-13035, 2003. 
  • Chromosomal rearrangements and the genomic distribution of ì gene-expression devergence in humans and chimpanzees.Marques-Bonet, T., Caceres, M., Bertranpetit, J., Preuss, T. ì Thomas, J. and Navarro, A.Trends in Genetics: 20: 524-528, 2004. 
  • Parallel FoxP1 and FoxP2 expression in songbird and human brain ì predicts functional interaction.Teramitsu, I., Kudo, L.C., London, S.E., Geschwind, D.H. and ì White, S.A.J. Neuroscience 24: 3152-3163, 2004. 
  • Expression of estvogen receptor alpha exon-deleted MRNA variants ì in the human and non-human primate frontal cortex.Perlman, W., Matsumoto, M., Beltaifa, S., Hyde, T., Saunders, R.,ì Webster, M., Rubinow, D., Kleinman, J. and Weickert, C.Neuroscience, 134: 81-95, 2005. 
  • NrCAM in addiction vulnerability: positional cloning, ì drug-regulation, haplotype-specific expression and altered drug ì reward in knockout mice.Ishiguro, H., Liu, Q., Gong, J., Hall, F., Ujike, H., Morales, ì M., Sakurai, T., Grumet, M. and Uhl, G.Neuropsychopharmacology 31(3):572-84, 2006. 
  • Comparative analyses of genomic imprinting and CpG ì island-methylation in mouse Murr1 and human MURR1 loci revealed aì putative imprinting control region in mice.Zang, Z., Joh K., Yatsuki, H., Wang, W., Arai, Y., Soejima, H., ì Higashimoto, K. Iwasaka, T. and Mukai, T.Gene 366: 77-86, 2006. 
  • Global analysis of alternative splicing differences between ì humans and chimpanzees.Calarco, J., Xing, Y., Caceres, M., Clarco, J., Xiao, X., Pan, ì Q., Lee, C., Preuss, T. and Blencowe, B.Genes & Dev 21: 2963-2975, 2007. 
  • Chondroitinase ABC improves basic and skilled locomotion in ì spinal cord injured cats.Tester, N. and Howland, D.Experimental Neurology 209: 483-496, 2008. 
  • The von Economo neurons in frontoinsular and anterior cingulate ì cortex in great apes and humansAllman, J., Tetreault, N., Hakeem, A., Manaye, K., Semendeferi, ì K., Erwin, J., Park, S., Goubert, V., Hof, P.Brain Struct Funct 214: 495-517, 2010. 
  • MicroRNA, mRNA, and protein expression link development and agingì in human and macaque brainSomel, M., Guo, S., Fu, N., Yan, Z., Hu, H., Ying, X., Yuan, Y., ì Ning, Z., Hu, Y., Menzel, C., Hu, H., Lachmann, M., Zeng, R., ì Chen, W., Kaitovich, P.Genome Research 20: 1207-1218, 2010. 
  • Intergenic and repeat transcription in human, chimpanzee and ì macaque brains measured by RNA-SeqXu, A., He, L., Li, Z., Xu, Y., Li, M., Fu, X., Yan, Z., Yuan, ì Y., Menzel, C., Li, N., Somel, M., Hu, H., Chen, W., Paabo, S., ì Khaitovich, P.PLoS Comput Biol 6(7): e1000843. 
  • Comprehensive survey of human brain microRNA by deep sequencingShao, N., Hu, H., Yan, Z., Hu, H., Menzel, C., Li, N., Chen, W., ì KhaitovichBMC Genomics 11: 409, 2010. 
  • Rapid metabolic evolution in human prefrontal cortexFu, X., Giavalisco, P., Liu, X., Catchpole, G., Fu, N., Ning, Z.,ì Guo, S., Yan, Z., Somel, M., Paabo, M., Zeng, R., Willmitzer, ì L., Khaitovich, P.PNAS 108:6181-6186, 2011. 
  • Extension of cortical synaptic development distinguishes humans ì from chimpanzees and macaquesLiu, X., Somel, M., Tang, L., Yan, Z., Jiang, X., Guo, S., Yuan, ì Y., He, L., Oleksiak, A., Zhang, Y., Li, N., Hu, Y., Chen, W., ì Qiu, Z., Paabo, S. and KhGenome Research, 2012. 
  • Foxp2 mediates sex differences in ultrasonic vocalizationby rat ì pups and directs order of meternal retrieval.Bowers, J.M., Perez-Pouchoulen, M., Edwards, N..S. and McCarthy, ì M.M.J.Neuroscience 33:3276-3283, 2013. 
  • Exceptional evolutionary divergence of human muscle and brain ì metabolomes parallels human cognitive and physical uniqueness.Bozek, K. et al.PLOS Biology 12(5):e1001871, 2014. 
  • Exceptional evolutionary divergence of human muscle and brain ì metabolomes parallels human cognitive and physical uniqueness.Bozek, K. et al.PLOS Biology 12(5):e1001871, 2014. 
  • Developmental Studies - Methods
  • High throughput analysis of gene expression in the human brain.Contantuoni, C., Purcell, A.E., Bouton, C.M.L. and Pevsner, J.J. Neurosci. Res. 59:1-10, 2000. 
  • Expressing what's on your mind: DNA arrays and the brain.Lockhart, D.J. and Barlow, C.Nature Reviews 2:63-68, 2001. 
  • Progenitor cells from human brain after death.Palmer, D., Schwartz, P., Taupin, P., Kaspar, B., Stein, S. and ì Gage, F.Nature, 411:42-43, 2001. 
  • High throughput imaging of brain gene expression.Brown, V.M., Ossadtchi, A., Khan,A.H., Cherry, S.R., Leahy, R.M.ì and Smith, D.J.Genome Research 12:244-254 2002. 
  • Does microwaving enhance the Golgi methods? A quantitative ì analysis of disparate staining patterns in the cerebral cortex.Weng, S., Zhang, H. and Hutsler, J.J. Neurosci. Methods, 124: 145-155, 2003. 
  • Isolation and characterization of neural progenitor cells from ì post-mortem human cortex.Schwartz, P., Bryant, P., Fuja, T., Su, H., O'Dowd, D. and ì Klassen, H.J. Neuroscience Res. 74:838-851, 2003. 
  • Human brain evolution: insights from microarrays.Preuss, T., Caceres, M., Oldham, M. and Geshwind, D.Nature: 5: 850-860, 2004. 
  • Database of mRNA gene expression profiles of multiple human ì organs.Son, C.G., Bilke, S., Davis, S., Greer, B.T., Wei, J.S., ì Whiteford, C.C., Chen, Q.-R., Cenacchi, N. and Khan, J.Genome Research 15:443-450, 2005. 
  • A Modified golgi staining protocol for use in the human brain ì stem and cerebellum.Friedland, D., Los, J. and Ryugo, D.J. Neurosci. Methods 150:90-95, 2006. 
  • Celsius: a community resource for Affymetrix microarray data.Day, A., Carlson, M., Dong, J., O'Connor, B and Nelson, S.Genome Biology 8:R112, 2007. 
  • Mechanical properties of soft human tissues under dynamic ì loading.Saraf, H., Ramesh, K., Lennon, A., Merkle, A. and Roberts, J.J. Biomechanics 40: 1960-1967, 2007. 
  • Measurement of the dynamic bulk and shear response of soft human ì tissues.Saraf, H., Ramesh, K., Lennon, A., Merkle, A. and Roberts, J.Experimental Mechanics 47:439-449, 2007. 
  • Platform dependence of inferenceon gene-wise and gene-set ì involvement in human lung developmentDu, R., Tantisira, K., Carey, V., Bhattachary, S., Metje, S., ì Kho, A., Klandeerman, B., Gaedigk, R., Lazarus, R., Mariani, T., ì Leeder, S., Weiss, S.BMC Bioinformatics 10: 189, 2009 doi:10.1186/1471-2105-10-189 
  • Estimating accuracy of RNA-Seq and microarrays with proteomicsFu, X., Fu, N., Guo, S., Yan, Z., Xu, Y., Hu, H., Menzel, C., ì Chen, W., Li, Y., Zeng, R., Khaitovich, P.BMC Genomics 10: 161, 2009. 
  • An anatomically comprehensive atlas of the adult human brain ì transcriptome.Evrony, G.D. and 65 other authors.Nature 489:391-399, 2012. 
  • An anatomically comprehensive atlas of the adult human brain ì transcriptome.Hawrylycz, M.J., et al.Nature 489:391-399, 2012. 
  • Maternal Hyperflycenia Activates an ASK1-FoxO3a-Caspase 8 Pathwayì That Leads to Embryonic Neural Tube Defects.Yang, P., Li, X., Xu, C., Exkert, R., Reece, A., Zielke, H. and ì Wang, F.Science Signaling 6 (290), ra74, 2013 
  • Measuring iron in the brain using quantitative susceptibility ì mapping and X-ray fluorescence imaging.NeuroImage 78:68-74, 2013. 
  • Diabetes
  • The insulin gene is transcribed in the human thymus and ì transcription levels correlated with allelic variation at the INSì VNTR-IDDM2 susceptibility locus for type 1 diabetes.Pugliese, A., Zeller, M., Fernandez, A., Zalcberg, L., Bartlett, ì R., Ricordi, C., Pietropaolo, M. Eisenbarth, G., Bennett, S. and ì Patel, D.Nature Genet. 15: 293-297, 1997. 
  • Self-antigen-presenting cells expressing diabetes-associated ì autoantigens exist in both thymus and peripheral lymphoid organs.Pugliese, A., Brown, D., Garza, D., Murchison, D., Zeller, M., ì Redondo, M, Diez, J., Eisenbarth, G., Patel, D. and Ricordi, C.J. Clin. Invest. 107: 555-564, 2001. 
  • Differential splicing of the IA-2 mRNA in pancreas and lymphoid ì organs as a permissive genetic mechanism for autoimmunity againstì the IA-2 Type 1 diabetes autoantigen.Diez, J., Park, Y., Zeller, M., Brown, D., Garza, D., Ricordi, ì C., Hutton, J., Eisenbarth, G. and Pugliese, A.Diabetes 50: 895-900, 2001. 
  • The insulin gene in diabetes.Pugliese, A. and Miceli, D.Diabetes Metabolism Research and Reviews, 18:13-25, 2002. 
  • Peripheral antigen-expressing Cells in Type 1 Diabetes.Prabakar, K. and Pugliese, A.Current Diabetes Reports, 4:101-107, 2004. 
  • Alternative splicing of G6PC2, the gene coding for the ì islet-specific glucose-6-phosphatase catalytic subunit-related ì protein (IGRP), results in differential expression in human ì thymus and spleen compared with pancreas.Dogra, R., Vaidyanatham, P., Prabakar, K., Marshall, K., Hutton, ì J. and Pugliese, A.Diabetologia, 49: 953-957, 2006. 
  • Hyperactivation of Akt/mTOR and deficiency in tuberin increased ì the oxidative DNA damage in kidney cancer patients with diabetesHabib, S.L. and Liang, S.Oncotarget 5: 2542-2550, 2014 
  • doi:10.1038/ncomms4584
  • Neanderthal ancestory drives evolution of lipid catabolism in ì contemporary Europeans.Khrameeva, E.E., Bozek, K., He, L. et al. 
  • Down Syndrome
  • Presence of soluble amyloid ß-peptide precedes amyloid plaque ì formation in Down's syndrome.Teller, J., Russo, C., DeBusk, L., Angelini, G., Zaccheo, D., ì Dagna-Bricarelli, F., Scartezzini, P., Bertolini, S., Mann, D., ì Tabaton, M. and Gambetti, P.Nature Medicine 2: 93-95, 1996. 
  • The human GARS-AIRS-GART gene encodes two proteins which are ì differentially expressed during human brain development and ì temporarily over expressed in cerebrum of individuals with Down ì syndrome.Brodsky, G., Barnes, T., Bleskan, J., Becker, L., Cox, M. and ì Patterson, D.Hum. Mol. Gen. 12: 2043-2050, 1997. 
  • Phosopholipid composition and levels are altered in Down syndromeì brain.Murphy, E.J., Schapiro, M.B., Rapoport, S.I., and Shetty, H.U.Brain Res. 867:9-18, 2000. 
  • Intraneuronal beta-amyloid precedes development of amyloid ì plaques in Down syndrome.Gyure, K.A., Durham, R., Stewart, W.F., Smialek, J.E., Troncoso, ì J.C.Arch. Pathol. Lab. Med. 125:489-492, 2001. 
  • The Drosophila homolog of Down's syndrome critical region 1 gene ì regulate learning: Implications for mental retardation.Chang, K., Shi, Y. and Min, K.PNAS 100: 15794-15799, 2003. 
  • Parallel compensatory and pathological events associated wiht Tauì pathology in middle aged individuals with Down Syndrome.Head, E., Lott, I., Hof, P., Bouras, C., Su, J., Kim, R., Haier, ì R and Cotman, C.J. Neuropath. Exp. Neurol. 62: 917-926, 2003. 
  • Global up-regulation of chromosome 21 gene expression in the ì developing Down syndrome brain.Mao, R., Zielke, C.L., Zielke, H.R. and Pevsner, J.Genomics 81: 457-467, 2003. 
  • Primary and secondary transcriptional effects in the developing ì human Down syndrome brain and heart.Mao, R., Wang, x., Spitznagel, E., Frelin, L., Ting, J., Ding, ì H., Kim, J., Ruczinski, I., Downey, T. and Pevsner, J.Genome Biology 6:R107, 2005. 
  • Role of gene expression in the devloping human Down Syndrome ì brain and heart.Mao, R., Wang, X., Spitznagel, E.L., Frelin, L.P., Kim, J., ì Downey, T.J. and Pevsner, J.Genome Biology 6:R107, 2005. 
  • BACE2, as a novel APP theta-secretase, is not responsible for theì pathogenesis of Alzheimer's disease in Down syndrome.Sun, X., He, G. and Song, W.FASEB Journal, 20:1369-1376, 2006. 
  • The cholestrol transporter ABCG1 modulates the proteolytic ì processing of amyloid precursor protein.Tansley, G., Burgess, B., Bryan, M., Su, Y., Hirsch-Reinshagen, ì V., Pearce, J., Chan, J., Wilkenson, A., Evans, J., Naus, K., ì McIsaac, S., Bromley, K., Song, W., Yang, H., Wang, N., Mattos, ì R. and Wellington, C.J. of Lipid Research. 48:1022-1034, 2007. 
  • Evidence against the overexpresion of APP in Down syndrome.Argellati, F., Massone, S., d"Abramo, c., Marinari, U., Pronzato,ì M., Domenicotti, C. and Riccaiarelli, R.Life 58: 103-106, 2006. 
  • Increased BACE1 maturation contributs to the pathogenesis of ì Alzheimer's disease in Down syndrome.Sun, X., Tong, X., Qing, H., Chen, C-H., and Song, W.FASEB Journal 20:1361-1368, 2006. 
  • Alpha- and beta-secretase activity as a function of age and ì beta-amyloid in Down syndrome and normal brain.Nistor, M., Don, M., Parekh, M., Sarsoza, F., Goodus, M., Lopez, ì G., Kawas, C., Levernez, J., doran, E., Lott, I., Hill, M. and ì Head, E.Neurobiol. Aging 28:1493-1506, 2007. 
  • Alpha- and beta-secretase activity as a function of age and ì beta-amyloid in Down Syndrome and normal brain.Nistor, M., Don, M., Parekh, M., Sarsoza, F., Goodus, M., Lopez, ì G., Kawas, C., Levernez, J., Doran, E., Lott, I., Hill, M. and ì Head, E.Neurobiology of Aging 28:1493-1506, 2007. 
  • Trisomy-driven overexpression of DYRK1A kinase in the brain of ì subjects with Down Syndrome.Dowjat, W., Adayev, T., Kuchna, I., Nowicki, K., Palminiello, E.,ì Hwang, Y and Wegiel, J.Neuroscience Letters 413:77-81, 2007. 
  • Increased levels of carbonic anhydrase II in the developing Down ì syndrome brain.Palminiello, S.,Kida, E., Kaur, K., Walus, M., Wisniewski, K., ì Wierzba-Bobrowicz, Rabe, A., Albertini, G. and Golabek, A.Brain Research 1190: 193-205, 2008. 
  • Human chromosome 21-derived miRNAs are overexpressed in down ì syndrome brains and hearts.Kuhn, D., Nuovo, G., Martin, M., Malana, G., Pleister, A., Jiang,ì J., Schmittgen, T., Terry, A., Gardiner, K., Head, E., Feldman, ì D. and Elton, T.BBRC 370:473-477, 2008. 
  • Human chromosome 21-derived miRNAs are overexpressed in down ì syndrome brains and hearts.Kuhn, D., Nuovo, G., Martin, M., Malana, G., Pleister, A., Jiang,ì J., Schmittgen, T., Terry, A., Gardiner, K., Head, E., Feldman, ì D. and Elton, T.BBRC 370: 473-477, 2008. 
  • Chromosome 21-derived miRNAs provide an etiological basis for ì aberrant protein expresion in human down syndrome brains.Kuhn, D., Nuovo, G., Terry, A., Martin, M., Malana, G., Sansom, ì S, Pleister, A., Beck, W., Gardiner, K., Head, E., Lott, I., ì Elton, T. and Feldman, D.J. Biol. Chem. 285:1529-1543, 2010. 
  • Upregulation of phosphorylated aB-crystallin in the brain of ì children and young adults with Down Syndrome.Palminiello, S., Jarzabek, K., Kaur, K., Walus, M., Rabe, A., ì Albertini, G., Golabek, A. and Kida, E.Brain Research 1268: 162-173, 2009. 
  • Molecular Chaperone aB-Crystallin Is Expressed in the Human Fetalì Telencephalon at Midgestation by a Subset of Progenitor CellsKida, E., Wierzba-Bobrowicz, T., Palminiello, S., Kaur, K., ì Jarzabek, K., Walus, M., Albertini, G., Golabek, A.Journal of Neuropathology and Experimental Neurology 69:745-759, 2010. 
  • Chromosome 21-derived microRNAs provide an etiological basis for ì aberrant protein expression in human down syndrome brains.Kuhn,D.E., Nuovo, G.J., Terry,J r., A.V.T., Malana, G.E., Sansom,ì S.E., Pleister, A.P., Beck, W.D., Head, E., Feldman,D.S., and ì Elton,T.S.J. Biol. Chem. 285:1529-1543, 2010. 
  • The Link Between DYRK1A Overexpression and Several-fold ì Enhancement of Neurofibrillary Degeneration with 3-Repeat Tau ì Protein in Down Syndrome.Wegiel, J., Kaczmarski, W., Barua, M., et alJ Neuropath ol Exp Neurol 70: 36-50, 2011. 
  • Form of dual-specificity tyrosine-(Y)-phosphorylation-regulated ì kinase 1A nonnphosphorylated at tyrosine 145 and 147 is enriched ì int he nuclei of astroglial cells, adult hippocampal progenitors,ì and some cholinergic axon terminals.Kida, E., Walus, M., Jarzabek, K., Palminiello, S., Albertini, ì G., Rabe, A., Hwang, Y. and Golabek, A.Neuroscience 195:112-127, 2011. 
  • Link between DYRK1A overexpression and several-fold enhancement ì of neurofibillary degeneration with 3-repeat Tau protein in Down ì SyndromeWeigel, J., Kaczarski, W., Barua, M., Kuchna, I. et al.J. Neuropathol Exp Neurol 70:36-50, 2011. 
  • Loss of sorting nexin 27 contributes to excitatory synaptic ì dysfunction by modulationg glutamate receptor recycling in Down'sì syndrome.Wang, X., et al. 
  • Loss of sorting nexin 27 contributes to excitatory synaptic ì dysfunction by modulationg glutamate receptor recycling in Down'sì syndrome.Wang, X. et al.Nature Medicine 19:473-480, 2013. 
  • Developmental patterns of DR6 in normal human hippocampus and in ì down syndromeIyer, A., van Scheppingen, J., Anink, J., Milenkovic, I., Kovacs,ì G. and Aronica, E.Journal of Neurodevelopmental Disorders 5:10, 2013. 
  • Metabotrophic glutamate receptor 5 in down's syndrome hippocampusì during development: Increased expression in astrocytesIyer, A.M., van Scheppingen, J., Milenkovic, I., Anink, J.J., ì Lim, D., Genazzani, A.A., Adle-Biassette, H., Kovacs, G.G., and ì Aronica, E.Current Alzheimer Research 11(7), 2014. 
  • Redox proteomics analysis of HNE-modified proteins in Down ì syndrome brain: clues for understanding the development of ì Alzheimer's disease.DiDomenico, F., Pupo, G., Tramutola, A., Giorgi, Schinina, M.E., ì Coccia, R., Head, E. and Butterfield, D.A.Free Radical Biology and Medicine In Press 
  • Neuropathological role of PI3K/Akt/mTOR axis in Down syndrome ì brain.Perluigi, M., Pupo, G., Tramutola, A., Cini,C., Coccia,R., ì Barone, E., Head, E., Butterfield. D.A. and Di Domenico, F.BBA 1842:1144-1153, 2014. 
  • Analysis of mtDNA, miR-155 and BACH expression in hearts from ì donors with and without down syndrome.Hefti, E., Quinones-Lombrana, A., Redzematovic, A., Hui, J. and ì Blanco, J.G.Mitochondrial DNA, Early Online: 1-8. 
  • Interindividual variability in the cardiac expression of ì anthracycline reductases in donors with and without down syndromeQuinones-Lombrana, A., Ferguson, D., Hageman Blair, R., Kalabus, ì J.L., Redzematovic, A. and Blanco, J. G.Pharm Res, 2014. 
  • Dravet syndrome
  • Correlations in timing of sodium channel expression,epilepsy, andì sudden death in Dravet syndrome.Cheah, C.S., Westenbroek, R.E., Roden, W.H., Kalume,F., ì Oakley,J.C., Jansen,L.A., and Catterall,W.A.Channels 7:468-472, 2013. 
  • mTOR Hyperactivation in down syndrome hippocampus appears early ì during developmentIyer, A.M., van Scheppingen, J., Milenkovic, I., Anink, J.J., ì Adle-Biasette, H., Kovacs, G.G. and Aronica, E.Neuropathol Exp Neurol 73(7): 671-683, 2014. 
  • Dystonia
  • Increased tissue copper and manganese in the lentiform nucleus inì primary adult-onset dystonia.Becker, G., Berg, D., Rausch, W.D., Lange, H.K., Riederer, P. andì Reiners, K.Ann. Neurol. 46:260-263, 1999. 
  • Dopamine transmission in DYT1 dystonia: A biochemical and ì autoradiographical study.Augood, S.J., Hollingsworth, Z., Albers, D.S., Yang, L., Leung, ì J.C., Muller, B., Klein, C., Breakefield, X.O. and Standaert, D.GNeurology 59: 445-448, 2002. 
  • Aggregation of actin and cofilin in identical twins with ì juvenile-onset dystonia.Gearing M., Juncos, J., Procaccio, V., Gutekunst, C.A., Marine, ì E., Gyure, K.A., Ono S., Santoianni R., Krawieki, N.S., Wallace ì D.C., and Wainer, BH.Ann. Neurol. 52:465-476, 2002. 
  • Distribution and ultrastructural localization of torsinA ì immunoreactivity in the human brain.Augood, S., Keller-McGandy, C., Siriani, A., Hewett, J. Ramesh, ì V., Sapp, E., DeFiglia, M., Breakefield, X. and Standaert, D.Brain Research 986: 12-21, 2003. 
  • TorsinA protein and neuropathology in early onset generalized ì dystonia with GAG deletion.Rostasy, K., Augood, S., Hewett, J., Leung, J., Sasaki, H., ì Ozelius, L., Ramesh, V., Standaert, D., Breakefield, X. and ì Hedreen, J.Neurobiology of Disease 12: 11-24, 2003. 
  • Dopamine transmission in DYT1 dystonia.Augood, S.J., Hollingsworth, Z., Albers, D.S., Yang, L., Leung, ì Breakefield, X.O. and Standaert, D.GDystonia 4: Advances in Neurology 94: 53-60, 2004. 
  • Regulation of DYT1 gene expression by the Ets family of ì transcription factors.Armata, I., Ananthanarayanan, M., Balasubramaniyan, N. and ì Shashidharan, P.J. Neurochem. 106: 1052-1065, 2008. 
  • Sequence features associated with microRNA strand selection in ì humans and fliesHu, H., Yan, Z., Xu, Y., Hu, H., Menzel, C., Zhou, Y., Chen, W., ì Khaitovich, P.BMC Genomics 10: 413, 2009. 
  • Neuropathology of cervical dystoniaPrudente, C.N., Pardo, C.A., Xiao, J., Hanfelt, J., Hess, E.J., ì LeDoux, M.S. and Jinnah, H.A.Experimental Neurology 241: 95-104, 2013. 
  • Dystonia/Parkinsons Disease
  • Widespread Lewy body and tau accumulation in childhood and adult ì onset dystonia-parkinsonism cases with PLA2G6 mutations.Paisan-Ruiz, C., Li, A., Schneider, S.A., Holton, J.C., Johnson,ì R., Kidd, D., Chataway, J., Phatia, K.P., Lees, A.J., Hardy,J., ì Revesz, T. and Houlden, H.Neurobiology of Aging, in press, 2010. 
  • Epigenetic regulation
  • Chromosome 15q11 13 duplication syndrome brain reveals epigeneic ì alterations in gene expression not predicted from copy number.Hogart, A., Leung, K., Wang, N., Wu, D., Driscoll, J., Vallero, ì R. Schanen, N and LaSalle, J.J Med Genet 46: 86-93, 2009. 
  • Impaired autophagy in neurons after disinhibition of mammalian ì target of rapamycin and its contribution to epileptogeneis.McMahon, J., Huang, X., Yang, J., Komatsu, M., Yue, Z., Qian, J.,ì Zhu, X., and Huang, Y.J. Neuroscience 32:15704-15714, 2012. 
  • A cell epigenotype specific model for the correction of brain ì cellular heterogeneity bias and its application to age, brain ì regins and major depression.Guintivano, J., Aryee, M.J. and Kaminsky, Z.A.Epigenetics 8:290-302, 2013. 
  • Global epigenomic reconfiguration during mammalian brain ì development.Lister, R. et al.Science 341:9 August 2013. 
  • Coordinated cell type-specific epigenetic remodeling in ì prefrontal cortext begins before birth and continues into early ì adulthoodShulha, H.P., Cheung, I., Guo, Y., Akbarian, S. and Weng, Z.PLoS Genet 9 (4): e1003433. 
  • The human placenta methylome.Schroeder, D., Blair, J., Lott, P., Yu, H., Hong, D., Crary, F., ì Ashwood, P., Walker, C., Korf, I., Robinson, W. and LaSalle, J.PNAS 110: 6037-6042, 2013 
  • DNA methylation and expression of KCNQ3 in bipolar disorder.Kaminsky, Z.A. et al. 
  • Identification and replication of a combined epigenetic and ì genetic biomarker predicting suicide and suicidal behaviors.Guintivano, J., et al.In preparation 
  • Epilepsy
  • Elevated corticotropin releasing hormone/corticotropin releasing ì hormone-R1 expression in postmortem brain obtained from children ì with generalized epilepsy.Wang, W., Dow, K.E. and Fraser, D.D.Ann. Neurol. 50(3): 404-409, 2001. 
  • Death-associated protein kinase expression in human temporal lobeì epilepsy.Henshall, D., Schindler, C., So, N., Lan, J., Meller, R. and ì Simon, R.Ann. Neurol. 55: 485-494, 2004. 
  • Bim regulation may determine hippocampal vulnerability following ì injurious seizures and in temporal lobe epilepsy.Shinoda, S., Schindler, C., Meller, R., So., N., Araki, T., ì Yamamoto, A., Lan, J., Taki, W., Simon, R. and Henshall, D.J. Clin. Invest. 113: 1059-1068, 2004. 
  • "Tectonic" hippocampal malformations in patients with temporal ì lobe epilepsy.Sloviter, R., Kudrimoti, H., Laxer, K., Barbaro, N., Chan, S., ì Hirsch, L., Goodman, R. and Pedley, T.Epilepsy Research 59: 123-153, 2004. 
  • Caspase-3 cleavage and nuclear localization of caspase-activated ì DNase in human temporal lobe epilepsy.Schindler, C., Pearson, E., Bonner, H., So, N., Simon, R., Prehn,ì J. and Henshall, D.JCBFM 26: 583-589, 2006. 
  • Endoplasmic reticulum stress and apoptosis signaling in human ì temporal lobe epilepsy.Yamamoto, A., Murphy, N., Schindler, C., So, N., Stohr, S. Taki, ì W., Prehn, J. and Henshall, D.J. Neuropath. Exp. Neurol. 65: 217-225, 2006. 
  • Evidence of tumor necrosis factor receptor 1 signaling in human ì temporal lobe epilepsy.Yamamoto, A., Schindler, C., Murphy, B., Bellver-Estelles, C., ì So, N., Taki, W., Meller, R., Simon, R. and Henshall, D.Exp. Neurol. 202: 410-420, 2006. 
  • Isoform- and subcellular fraction-specific differences in ì hippocampal 14-3-3 levels following experimentally evoked ì seizures and in human temporal lobe epilepsy.Schindler, C., Heverin, M. and Henshall, D.J. Neurochem. 99: 561-569, 2006. 
  • Increased sensitivity of the neuronal nicotinic receptor 2 ì subunit causes familial epilepsy with nocturnal wandering and ì ictal fear.Aridon, P., Marini, C., Resta, C., Brilli, E., DeFusco, M., ì Politi, F., Parrini, E., Manfredi, I., Pisano, T., Pruna, D., ì Curia, G., Cianchetti, C., Pasqualetti, M., Becchetti, A., ì Guerrini, R. and Casari, G.Am. J. Hum. Gen. 79: 342-350, 2006. 
  • Bcl-w protects hippocampus during experimental status ì epilepticus.Murphy, B., Dunleavy, M., Shinoda, S., Schindler, C., Meller, R.,ì Bellver-Estesses, C., Hatazaki, S., Dicker, P., Yamamoto, A., ì Koegel, In. Chu, X., Wang, W., Xiong, Z and Henshall, D.Amer J of Pathology 171: 1258-1268, 2007. 
  • Elevated p53 and lower MDM2 expression in hippocampus from ì patients with intractable temporal lobe epilepsy.Engel, T., Murphy, B., Schindler, C. and Henshall, D.Epilepsy Research 77:151-156, 2007. 
  • Novel SCN1A frameshift mutation with absense of truncated Nav1.1 ì protein in severe myoclonic epilepsy of infancy.McArdle, E., Kunic, J. and George, A.AJMG 146: 2421-2423, 2008. 
  • X-linked protocadherin 19 mutations cause female-limited epilepsyì and cognitive impairment.Dibbens, L., Tarpey, P., Hynes, K., Bayly,M., Scheffer, I. et al.Nat Genet 40(6): 776-781, 2008. 
  • Reduced Mature MicroRNA Levels in Association with Dicer Loss in ì Human Temporal Lobe Epilepsy with Hippocampal Sclerosis.McKiernan, R., Jimeniz-Mateos, E., Bray, I., Engel, T., Brennan, ì G., San, T., Michalak, Z., Moran, C., Delanty, N., Farrell, M., ì O'Brien, D., Meller, R., Simon, R., Stallings, R. and Henshall, ì D.PLoS ONE 7: e35921 
  • Silencing micro RNA-134 produces neuroprotective and prolonged ì seizure-suppreswsive effects.Jimeniz-Mateos, E., Engel, T., Merino-Serrais, P., McKiernan, R.,ì Tanaka, K., Mouri, G., Sano, T., O'Tuathaigh, C., Waddington, ì J., Prenter, S., Delanty, N., Farrell, M., O'Brien, D., Conroy, ì R., Stallings, R., DeFelipe, J. and Henshall, D.Nature Medicine 18: 1087-1094, 2012 
  • Mitochondrial localizaiton of the Forkhead box class O ì transcription factor FOXO3a in brain.Caballer-Caballero, A., Engel, T., Martinez-Villarreal, J., ì Sanz-Rodriguez, A., Chang, P., Dunleavy, M., Mooney, C., ì Jimeniz-Mateos, E., Schindler, C. and Henshall, D.J Neurochem 124: 749-756, 2013. 
  • Increased neocortical expression of the P2X7 receptor after ì status epilepticus and anticonvulsant effect of P2X7 receptor ì atagonist A-438079Jimenez-Pacheco, A., Mesuret, G., Sanz-Rodriguez, A., Tanaka, K.,ì Mooney, C., Conroy, R., Miras-Portugal, M.T., Diaz-Hernandez, ì M., Henshall, D.C. and Engel, T.Epilepsia 54(9): 1551-1561,2013. 
  • CHOP regulates the p53-MDM2 axisw and is required for neuronal ì survival after seizures.Engel., T., Sanz-Rodriguez, A., Jimenez-Mateos, E., Concannon, ì C., Jimeniz-Pacheco, A.,Moran, C., Mesuret, G., Petit, E., ì Delanty, N., Farrell, M., O'Brien, D., Prehn, J., Lucas, J. and ì Henshall, D.Brain 136: 577-592, 2013 
  • Glial localization of antiquitin: implications for ì pyridoxine-dependent epilepsy.Jansen, L.A., et al.Ann. Neurol. 75:22-32, 2014. 
  • Familial Dysautonomia
  • Tissue-specific reduction in splicing efficiency of IKBKAP due toì the major mutation associated with familial dysautonomia.Cuajungco, M., Leyne, M., Mull, J., Gill, S., Lu, W., Zagzag, D.,ì Axelrod, F., Maayan, C., Gusella, J. and Slaugenhaupt, S.Am. J. Hum. Genet., 72: 749-758, 2003. 
  • IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia ì patients results in down regulation of genes involved in ì oligodendrocyte differentiation and in myelination.Cheishvili, D., Maayan, C., Smith, Y., Ast, G. and Razin, A.Human Molecular Genetics 16: 2097-2104, 2007. 
  • IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia ì patients results in down regulation of genes involved in ì oligodendrocyte differentiation and in myelination.Cheishvilli, D., Maayan, C., Smith, Y., Ast, G. and Razin, A.HMG 16: 2097-2104, 2007. 
  • Familial dysautonomia (FD) patients have reduced levels of the ì modified wobble nucleoside mcm5s2U in ttRNA.Karlsborn, T., Tukenmez, H., Chen, C. and Bystrom, A.S.Biochem. Biophys. Res. Commun. 454:441-445, 2014. 
  • Forensic Pathology
  • Concentration of carbon monoxide (CO) in postmortem human ì tissues: Effect of environmental CO exposure.Vreman, HJ, Wong, RJ, Stevenson, DK, Smialek, JE., Fowler, D, Li,ì L, and Zielke, HR.Pediatric Research 51:468A(2727), 2002. 
  • Concentration of carbon monoxide (CO) in postmortem human ì tissues: effect of environmental CO exposure.Vreman, HJ, Wong, RJ, Stevenson, DK, Smialek, JE., Fowler, D, Li,ì L, Vigorito, RD. and Zielke, HR.J. Forensic Sci. 51: 1182-1190. 
  • Ultrasound-facilitated fixation of whole prostrate specimens.Chu, W.-S., Zou, N., Furusato, B., Potter, K., Sesterhenn, I., ì Nelson, A., Kakareka, J., Pohida, T., Li, L., Fowler, D., ì Maouvada, S., Harris, G., Fick, S. and Ji, A.In Preparation 2010 - listed here because Ling is not a recipient 
  • Fragile X
  • Dendritic spine structural anomalies in Fragile-X mental ì retardation syndrome.Irwin, S.A., Galvez, R. and Greenough, W.T.Cerebral Cortex 10:1038-1044, 2000. 
  • Abnormal dendritic spine characteristics in the temporal and ì visual cortices of patients with Fragile-X syndrome: a ì quantitative examination.Irwin, S.A., Patel, B., Idupulapati, M., Harris, J.B., ì Crisostomo, R.A., Larsen, B.P., Kooy, F., Willems, P.J., Cras, P.ì Kozlowski, P.B., Swain, R.A., Weiler, I.J. and Greenough, W.T.Amer. J. Med. Gen. 98:161-167, 2001. 
  • Effects of Fragile X syndrome and an Fmr1 knockout mouse model onì forebrain neuronal cell biology.Churchill, J.D., Beckel-Mitchener, A., Weiler, I.J., and ì Greenough, W.T.Microscopy Research and Technique 57:156:158, 2002. 
  • A converging-methods approach to Fragile X syndrome.Churchill, J.D., Grossman, A.W., Irwin, S.A., Galvez, R., ì Klintsova, A.Y., Weiler, I.J. and Greenough, W.T.Developmental Psychobiology 40: 323-328, 2002. 
  • Synaptic regulation of protein synthesis and the fragile X ì protein.Greenough, W.T., Kintsova, A.K., Irwin, S.A., Galvez, R., Bates, ì K.E., and Weiler, I.J.PNAS, 98: 7101-7106, 2001. 
  • Brain structure and the functions of FMRP. (Chapter in Fragioe ì XSsyndrome: Diagnosis, Treatment,and Research", 3rd edition)Irwin, S.A., Galvez, R., Weiler, I.J., Beckel-Mitchener, A. and ì Greenough, W.T.Johns Hopins University Press, 2002. 
  • Neuronal intranuclear inclusions in a new cerebellar ì tremor/ataxia syndrome among fragile X carriers.Greco, C.M., Hagerman, R.J., Tassone, F., Chudley, A.E., Del ì Bigio, M.R., Jacquemont, S., Leehey, M. and Hagerman, P.J.Brain 125: 1760-1771, 2002. 
  • Differential impact of the FMR1 gene on visual processing in ì Fragile X syndrome.Kogan, C., Boutet, I., Cornish, K., Zangenehpour, S., Mullen, K.,ì Holden, J., Der Kaloustian, V., Andermann, E. and Chaudhuri, A.Brain 127: 591-601, 2004. 
  • Whole genome microarray analysis of gene expression in subjects ì with fragile X syndrome.Bittel, D., Kibiyeva, N., and Butler, M.Genetics in Medicine 9: 1-10, 2007. 
  • Whole genome microarray analysis of gene expression in subjects ì with fragile X syndrome.Bittel, D., Kibiryeva, N. and Butler, M.Genetics in Medicine 9: 464-472, 2007. 
  • The role of fragile X mental retardation protein in major mental ì disordersFatemi, H., Folsom, T.Neuropharmacology 60:1221-1226, 2011. 
  • Somatic expansion in mouse and human carriers of fragile X ì premutation allelesLokanga, R. A., Entezam, A., Kumari, D., Yudkin, D., Qin, M., ì Beebe Smith, C. and Usdin, K.Human Mutation 34: 157-166, 2013. 
  • Activation of the extracellular signal-regulated kinase pathway ì contributes to the behavioral deficit of fragile x-syndrome.Wang, X., Snape, M., Klann, E., Stone, J., Singh, A., Petersen, ì R., Castellani, R., Casadesus, G., Smith, M. and Zhu, X.J. Neurochem 121: 672-679, 2012. 
  • FMRP targets distinct mRNA sequence elements to regulate proein ì expression.Ascano et alNature 2012 
  • Species-dependent posttranscriptional regulation of NOS1 by FMRP ì in the developing cerebral cortex.Kwan, K.Y. et al.Cell 149:899-911, 2012. 
  • Reduced excitatory amino acid transporter 1 and metabotropic ì glutamate receptor 5 expression in the cerebellum of fragile ì mental retardation gene 1 premutation carriers with fragile ì X-associated tremor/ataxia syndrome.Pretto, D.I., et al.Neurobiology of Aging 35:1189-1197, 2014. 
  • Hunter Disease
  • Murine neural stem cells model Hunter disease in vitro: Glial ì cell-mediated neurodegeneratation as a possible mechanism ì involved.Poli, E.F., Zalfa, C., D'Avanzo, F.,Tomanin, R., Carlessi, L., ì Bossi, M., Nodari, L.R., Binda, E., Marmiroli, P., Scarpa, M., ì Della, D., Vescovi, A.L. and De Fillppis, L. Cell Death and Disease 4:e906, 2013. 
  • Huntington's Disease
  • Expanded-Polyglutamine Huntingtin protein suppresses the ì secretion and production of a chemokine (CCL5/RANTES) by ì astrocytes.Chou. S., Weng, J., Lai, H., Liao, F., Sun, S., Tu, P., Dickson, ì D. and Chern, Y.J. Neuroscience 28:3277-3290, 2008. 
  • Nuclear translocation of AMP-activated protein kinase a1 ì potentiates striatal neurodegeneration in Huntington's disease.Chern, Y.J Cell Biol 194: 209-227, 2011. 
  • Striatal neuronal loss correslates iwth clinical motor impairmentì in Huntington's disease.Guo, Z., Rudow, G., Pletnikova, Ol. Codispoti, K., Orr, B., ì Crain, B., Duan, W., Margolis, R., Rosenblatt, A., Ross, C. and ì Troncoso, J.Mov Disord 
  • A critical role of astrocyte-mediated nuclear factor-kB-dependentì inflammation in Huntington's disease.Hsiao, H., Chen, Y., Chen, H., Tu, P. and Chern, Y.Hum Mol Gen 1-17, 2013. 
  • Krabbe/Gaucher disease
  • Selective extraction and effective separation of ì galactosylsphingosine (Psychosine) and glucosylsphingosine from ì other glycosphingolipids in pathological tissue samplesLi, Y., Li, S., Buck, W., Haskins, M., Wu, S., Khoo, K., ì Sidransky, E., Bunnell, B.Neurochem Res 36: 1612-1622, 2011. 
  • Krabbe's Disease
  • Apoptotic positve cells in Krabbe brain and induction of ì apoptosis in rat C6 glial cells by psychosine.Jatana, M., Giri, S. and Singh, A.K.,Neuroscience Letters 330:183-187, 2002. 
  • Characterization and application of a disease-cell model for a ì neurodegenerative lysosomal disease.Ribbens, J., Moser, A., Hubbard, W., Bongarzone, E. and Maegawa, ì G.Mol. Genet. Metab. 2013 
  • Characterization and application of a disease-cell model for a ì neruodegenerative lysosomal disease.Ribbens, J.J., Moser, A.B., Hubbard, W.C., Bongarzone, E.R. and ì Maegawa, C.H.B.Molec. Genetics and Metabolism 111:172-183, 2014. 
  • Characterization and application of a disease-cell model for a ì neruodegenerative lysosomal disease.Ribbens, J.J., Moser, A.B., Hubbard, W.C., Bongarzone, E.R. and ì Maegawa, C.H.B.Molec. Genetics and Metabolism 111:172-183, 2014. 
  • Lambert-Eaton Myasthenic Syndrome
  • The proteins synaptotagmin and syntaxin are not general targets ì of Lambert-Eaton Myasthenic syndrome autoantibody.Hajela, R.K. and Atchison, W.D.J. Neurochem. 64:1245-1251, 1995. 
  • Laron Syndrome
  • Clinical, biochemical, and molecular investigations of growth ì hormone insensitivity (Laron's syndrome).Baumbach, L., Schiavi, A., Bartlett, R., Perera, E., Day, J., ì Brown, M., Stein, S., Eidson, M., Parks, J. and Cleveland, W.J.Clin. Endo. Metab. 82:444-451, 1997. 
  • Clinical, Biochemical, and Molecular Investigations of a Bahamianì Genetic Isolate of Laron Syndrome.Baumbach, L., Schiavi, A., Bartlett, R., Perera, E., Day, J., ì Tapley, S., Brown, M., Stein, S., Eidson, M., Parks, J. and ì Cleveland, W.J.Clin. Endo. Metab. 82:444-451, 1997. 
  • Lesch-Nyhan Disease
  • Loss of dopamine phenotype among midbrain neurons in lesch-nyhan ì disease.Gottle, M., Prudente, C., Fu, R., Sutcliffe, D., Pang, H., ì Cooper, D., Veledar, E., Glass, J.D., Gearing, M., Visser, J.E., ì Jinnah, H.A.American Neurological Association 76: 95-107, 2014. 
  • Leukodystrophy
  • A novel leukodystrophy with myelin disorganization and ì hypogonadotropic hypogonadism.Timmons, M., Tsokos, M., Wong, K., Seminara, S., Abu-Asab, M., ì Kaneski, C., Heiss, J., van der Knaap, M., Vanier, M., France, L.ì and Schiffmann, R.Neurology 67:2066-2069, 2006. 
  • Peripheral and central hypomyelination with hypogonadotropic ì hypogonadism and hypodontia.Timmons, M., Tsokos, M., Asab, M., Seminara, S., Zirzow, G.. ì Kaneski, C., Heiss, J., van der Knaap, M., Vanier, M., ì Schiffmann, R. and Wong, K.,Neurology 67: 2066-2069, 2006. 
  • Leukodystrophy, Metachromatic
  • Metallothioneeins as Dynamic Markers for Brain Disease in ì Lysosomal DisordersCesani, M., Cavalca, E., Macco, R., Leoncini, G., Terreni, M., etì alAnn Neurol 75: 127-137, 2014 
  • Lissencephaly
  • Genotypically defined lissencephalies show distinct pathologies.Mark S. Forman, Waney Squier, William B. Dobyns, and Jeffrey A. ì GoldenJ. Neuropathol. Exp. Neurol 64(10):847-857, 2005. 
  • Long-chain fatty acid beta oxidation defect
  • A new genetic disorder in mitochondrial fatty acid ì beta-oxidation, ACAD9 deficiency.He, M., Rutledge, S.L., Kelly, D.R, Palmer, C.A., Murdoch, G., ì Majumder, N., Nicholls, R.D., Pei, Z., Watkins, P.A., and ì Vockley, J.Amer. J. Hum. Genetics 81:87-103, 2007. 
  • Mucopolysaccharidosis
  • Accumulation of intracellular amyloid-B peptide (A beta 1-40) in ì mucopolysaccharidosis brains.Ginsberg, S.D., Galvin, J.E., Lee, V., M-Y., Rorke, L.B., ì Dickson, D.W., Wolfe, J.H., Jones, M.Z. and Trojanowski, J.Q.J. Neuropath. Exper. Neurol. 58:815-824, 1999. 
  • Accumulation of Intracellular Amyloid-B Peptide in ì Mucoopolysaccharidosis Brains.Ginsberg, S., Galvin, J., Lee, V., Rorke, L., Dickson, D., Wolfe,ì J., Jones, M. and Trojanowski, JJournal of Neuropathology and Experimental Neurology 58: 815-824, 1999. 
  • Localized donor cells in brain of a Hunter disease patient after ì cord blood stem cell transplantation.Araya, K., Sakai, N., Mohri, I., Kagitani-Shimono, K., Okinaga, ì T., Hashii, Y., Ohta, H., Nakamichi, I., Aozasa, K., Taniike, M.,ì Ozono, K.Molecular Genetics and Metabolism 98:255-263, 2009. 
  • Blood-brain barrier impairment in MPS III patients.Garuzova-Davis, S., Mirty, S., Sallot, S.A., Hernandez-Ontiveros,ì D.G., Haller, E., and Sanberg, P.R.BMC Neurology 13:174, 2013. 
  • Multiple Sclerosis
  • Expression of Golli proteins in adult human brain and multiple ì sclerosis lesions.Filipovic, R., Rakic, S. and Zecevic, N.J. Neuroimm. 127:1-12, 2002. 
  • Preparation of a monoclonal antibody to citrullinated epitopes: ì Its characterization and some applications to ì immunohistochemistry in human brain.A. P. Nicholas and J.N. WalkerGlia 37:328-336, 2002. 
  • GRO-a and CXCR2 in the human fetal brain and multiple sclerosis ì lesions.Flilpovic, R., Jakovcevski, I., and Zecevic, N.Dev. Neurosci. 25:279-290, 2003. 
  • Activation of microglial poly(ADP-ribose)-polymerase-1 by ì cholesterol breakdown products during neuroinflammation: ì 7-ketocholesterol release during neuroinflammation: a link ì between demyelination and neuronal damage.Diestel, A., Aktas, O., Hackel, D., Häke, I., Meier, S, Raine, ì C., Zipp, F., Nitsch, R. and Ullrich, O.J. Exp.Med. 11: 1729-40, 2003. 
  • CXC chemokine receptors on human oligodendrocytes: implications ì for multiple sclerosis.Omari, K., Johon, G., Sealfon, S.. and Raine, C.Brain 128: 1003-1015, 2005. 
  • Role for CXCR2 and CXCL1 on glia in multiple sclerosis.Omari, K., John, G., Lango, R. and Raine, C.Glia 53: 24-31, 2006. 
  • Clonally expanded plasma cells in the cerebrospinal fluid of MS ì patients produce myelin specific antibodies.Budingen, H., Harrer, M., Kuenzie, S., Meier, M. and Goebals, N.Eur. J. Immunol. 38: 2014-2023, 2008. 
  • Multiple System Atrophy
  • Altered expression of miR-202 in cerebellum of multiple system ì atrophy. Lee, S-T. et al. 
  • Altered expression of miR-202 in cerebellum of multiple-system ì atrophy.Lee, S., Chu, K., Jung, K., Ban, J., Im, W., Jo, H., Park, J., ì Lim, J., Shin, J., Moon, J., Lee, S., Kim, M., and Roh, J.Molecular Neurobiology 
  • Muscular Dystrophy
  • Aberrant regulation of insulin receptor alternative splicing is ì associated with insulin resistance in myotonic dystrophy.Savkur, A., Philips, A. and Cooper, T.Nature Genet. 29, 40-47, 2001. 
  • LARGE can functionally bypass a-dystroglycan glycosylation ì defects in distinct congenital muscular dystrophies.Barresi, R., Michele, D., Kanagawa, M., Harper, H., Dovico, S., ì Satz, J., Moore, S., Zhang, W., Schachter, H., Dumanski, J., ì Cohn, R., Nishino, I. and Campbell, K.Nature Medicine 10: 696-705, 2004. 
  • Reversible model of RNA toxicity and cardiac conduction defects ì in myotonic dystrophy.Mahadevan, M., Yadava, R., Yu, Q., Balijepalli, S., ì Frenzel-McCardell, C., Bourne, T. and Phillips, L.Nature Genetics 38: 1066-1070, 2006. 
  • RNA toxicity in myotonic muscular dystorphy induces NKX2-5 ì expression.Yadave, R., Frenzel-McCardell, C., Yu, Q., Srinivasan, V., ì Tucker, A., Puymirat, J., Thornton, C., Prall, W., Harvery, R., ì and Mahadevan, M.Nature Genetics 40:61-68, 2008. 
  • Myoclonus Dystonia
  • SGCE isoform characterization and expression in human brain: ì implications for myoclonus-dystonia pathogenesis?Ritz, K., van Schaik, B., Jakobs, M., van Kampen, A., Aronica, ì E., Tijssen, M., Baas, F.European Journal of Human Genetics 19: 438-444, 2011 
  • SGCE isoform characterization and expression in human brain: ì implications for myoclonus-dystonia pathogensis?Ritz, K., van Schaik, B., Jakobs, M., van Kampen, A., Aronica, ì E., Tijssen, M., Baas, F.European Journal of Human Genetics 19:438-444, 2011. 
  • Myotonic Dystrophy
  • RNA-binding Protein Muscleblind-like 3 (MBNL3) Disrupts Myocyte ì Enhancer Factor 2 (Mef2) Beta-Exon SplicingLee, K., Cao, Y., Witwicka, H., Tom, S., Tapscott, S., Wang, E.Journal of Biological Chemsitry 285:33779-33787, 2010. 
  • NBIA
  • New NBIA subtype: Genetic, clinical, pathologic, and ì readiographic features of MPAN.Hogarth, P., Gregory, A., Kruer, M., Sanford, L., Wagoneer, W. etì al.Neurology 80: 268-275, 2013. 
  • New NBIA subtype.Hogarth, P. et al.Amer. Acad. of Neurology 80:1-8, 2013 
  • Neurodegeneration
  • Selective loss of expression of glutamate GluR2/R3 receptor ì subunits in cerebellar tissue from a patient with ì olivopontocerebellar atrophy.G. Dirson, P. Desjardins, T. Tannenberg, P. Dodd, and R. ì Butterworth.Metabolic Brain Disease 17: 77-82, 2002. 
  • Novel histopathologic findings in molecularyly-confirmed ì pantothenate kinase-associated neurodegeneration.Kruer, M., Hiken, M., Gregory, A., Malandrini, A., Clark, D., ì Hogarth, P., Grafe, M., Hayflick, S., Woltjer, R.Brain 134:947-958, 2011. 
  • Neurodegeneration-asociated instability ofribosomal DNA.Hallgren, J., Pietrzak, M., Rempala, G., Nelson, P.T. and Hetman,ì M.BBA 1842:860-868, 2013. 
  • Neurofibromatosis
  • Ruffling membrane, stress fiber, cell spreading and proliferationì abnormalities in human Schwannoma cells.Pelton, P., Sherman, L., Rizvi, T., Marchionni, M., Wood, P., ì Friedman, R. and Ratner, N.Oncogene 17: 2195-2209, 1998. 
  • Germline mutations in NF1 patients with malignancies.Wu, R., López-Correa, C., Rutkowski, J., Baumbach, Glover, T. andì Legius, E.Genes, Chromo. & Cancer, 26:376-380, 1999. 
  • Multiple mechanism of benign tumor formation in Neurofibromatosisì Type 1.Rutkowski, J., Wu, K., Gutmann, D., Boyer, P. and Legius, E.Human Mol. Gen. 9:1059-1066, 2000. 
  • Germline Mutations in NF1 Patients With Malignacies.Wu, R., López-Correa, C., Rutkowski, J., Baumbach, L., Glover, T.ì and Legius, E.Genes, Chromosomes & Cancer 26:376-380, 1999. 
  • Elevated risk for MPNST in NF1 microdeletion patients.Raedt, T., Brems, H., Wolkenstein, P., Vidaud, D., Pilotti, S., ì Perrone, F., Mautner, V., Frahm, S., Sciot, R. and Legius, E.Am. J. Hum. Genet. 72:1288-1292, 2003. 
  • Secretome survey of human plexiform neurofibroma derived schwann ì cells reveals a secreted form of the RARRES1 protein.Chwen, H-L., Seol, H., Brown, K.J., Gordish-Dressman, H., Hill, ì A., Gallo, V., Packer, R. and Hathout, Y.Int. J. Mol. Sci. 13:9380-9399, 2012. 
  • Neuronal Ceroid Lipofuscinosis
  • Intraventricular enzyme replacement improves disease phenotypes ì in a mouse model of late infantile neuronal ceroid ì lipofuscinosis.Chang, M., Cooper, J., Sleat, D., Cheng, S., Dodge, J., Passini, ì M., Lobel, P., and Davidson, B.Molecular Therapy, 16:649-656, 2008. 
  • Neuropathy
  • Assesment of serum-mediated neurotoxicity in Navajo neuropathy.Lawlor, M.W., Holve, S., and Stubbs, E.B.Electromyogr. Clin. Neurophysicol. 40:211-214, 2000. 
  • Alterations in CD30+ T Cells in Monoclonal Gammopathy of ì Undertermined Significance.Ellis, T.M., Le, P.T., DeVries, G., Stubbs, E., Fisher, M., and ì Bhoopalam, N.Clinical Immunology 98:301-307, 2001. 
  • Antibodies to L-periaxin in sera patients with peripheral ì neuropathy produce experimental sensory nerve conduction ì deficits.Lawlor, M.W., Richards, M. P., DeVries, G.H., Fisher, M.A., and ì Stubbs, E.BJ. Neurochem. 83:592-600, 2002. 
  • Anti-neurofilament antibodies in neuropathy with monoclonal ì gammopathy of undetermined significance produce experimental ì motor nerve conduction block.Stubbs, E.B., Lawlor, M.W., Richards, M.P., Siddiqui, K., Fisher,ì M.A., Bhoopalam, N., and Siegel, G.J.Acta Neuropathologica 105: 109:116, 2003. 
  • Valosin-containing protein gene mutations: clinical and ì neuropathological features.Marechal, L., Laquerriere, A., Dumanchin, C., Duyckaerts, C., ì Bou, J., Hannequin, D., Frebourg, T. and Campion, D.Neurology, 67(4):644-651, 2006. 
  • Niemann-Pick
  • Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 ì Cerebellum Identifies Protein Biomarkers and Provides ì Pathological Insight.Cologna, S., Jian, X., Backland, P., Cluzeau, C., Dail, M., ì Yanjanin, N., Siebel, S., Toth, C., Jun, H., Wassif, C., Yergey, ì A. and Porter, F.PLoS ONE 7: e47845. 
  • Human and mouse neuroinflammation markers in Niemann-Pick ì disease, type C1.Cologna, S., Cluzeau, C., Yanjanin, N., Blan, P., Dail, M., ì Siebel, S., Toth, C., Wassif, C., Lieberman, A. and Porter, F.J Inherit Metab Dis, pub online 
  • Plasma Signature of Neurological Disease in the Monogenetic ì Disorder Niemann-Pick Type CAlam, M., Getz, M., Yi, S., Kurkewich, J., Safeukui, I. and ì Haldar, K.J of Biological Chem 289: 8051-8066, 2014 
  • OCD
  • Antineuronal antibodies in OCD: comparisons in children with ì OCD-only, OCD+chronic tics and OCD+PANDAS.Gause, C., Vernekar, S., Morris, C., Pardo, C., Grados, M., ì Singer, H.S.J Neuroimmunology 214: 118-124, 2009. 
  • Pain
  • Proenkephalin A gene products activate a new family of sensory ì neuron-specific GPCRs.Lembo, P.M.C., Grazzini, E., Groblewski, T., O'Donnell, D., Roy, ì M.-O., Zhang, Jl, Hoffert, C., Cao, J., Schmidt, R., Pelletier, ì M., Labarre, M., Gosselin, M., Fortin, Y., Banville, D., Shen, ì S.H., Strom, P., Payza, K., Dray, A., Walker, P. and Ahmad, S.Nature Neurosci. 5: 201-209, 2002. 
  • A stop codon mutation in SCN9A causes lack of pain sensation.Ahmad, S., Dahllund, L., Eriksson, A.B., Hellgren, D., Karlsson, ì U., Lund, P.E., Meijer, I.A., Meury, L., Mills, T., Moody, A., ì Morinville, A., Morten, A., O'Donnell, D., Raynoschek, C., ì Salter, H., Rouleau, G.A. and Krupp, J.Hum. Mol. Gen. 16(17): 2114-2121, 2007. 
  • Parkinson's Disease
  • LRRK2 in Lewy bodies of Parkinson's Disease and dementia with ì Lewy bodies.Smith, M., Zhu, X., Babar, A., Siedlak, S., Yang, Q., Ito, G, ì Iwatsubo, T., Perry, G. and Chen, S.Submitted, 2007. 
  • Somatic mitochondrial DNA mutations in cortex and substantia ì nigra in aging and Parkinson's disease.Simon, D.K., Lin, M.T., Zheng, L., Liu, G., Ahn, C.H., Kim, L., ì Mauck, W.M., Twu, F., Flint Beal, M. and Johns, D.R.Neurobiology of Aging 25: 71-81, 2003. 
  • Parkin facilitate the elimination of expanded polyglutamine ì proteins and leads to preservation of preteasome function.Tsai, Y., Fishman, P., Thakor, N., and Oyler, G.J. Biol. Chem. 278: 22044-22055, 2003. 
  • Gaucher disease: complexity in a "simple" disorder.Sidransky, E.Molecular Genetics and Metabolism 83: 6-15, 2004. 
  • Glucocerebrosidase mutations in subjects with parkinsonism.Lwin, A., Orvisky, E., Goker-Alpan, O., LaMarca, M. and ì Sidransky, E.Molecular Genetics and Metabolism 81: 70-73, 2004. 
  • Flotillin-1 in the substantia nigra of the Parkinson brain and a ì predominant localization in catecholaminergic nerves in the rat ì brain.Jackobowitz, D. and Kallarakal, A.Neurotoxicity Research 6: 245-258, 2004. 
  • Transcriptional analysis of multiple brain regions in Parkinson'sì disease supports the involvement of specific protein processing,ì energy metabolism, and signaling pathways, and suggests novel ì disease mechanisms.Zhang, Y., James, M., Middleton, F. and Davis, R.Amer. J. Medical Genetics Part B 137B: 5-16, 2005. 
  • Human brain derived neurotrophic factor (BDNF) genes, splicing ì patterns and assessments of associations with substance abuse andì Parkinson's disease.Liu, Q., Walther, D., Grgon, T., Polesskaya, o, Lesnick, T., ì Strain K, deAndrade, M., Bower, J., Maraganore, D. and Uhl, G.Am. J. Med. Genet. B Neuropsychaiatr. Genet. 134B:93-103, 2005. 
  • LRRK2 in Parkinson's disease and dementia with Lewy bodies.Zhu, X., Babar, A., Siedlak, S., Yang, Q., Ito, G, Iwatsubo, T., ì Smith, M., Perry, G. and Chen, S.Molecular Neurodegeneration 1: 17, 2006. 
  • Levels of alpha-synuclein (SNCA)-RNA in sporadic parkinson ì disease patients.Chiba-Falek, O., Lopez, G. and Nussbaum. Mov. Disorder 21:1703-1708, 2006. 
  • Localization of N-methyl-norsalsolinol within rodent and human ì brain.DeCuypere, M., Kalabokis, V., Hao, R., Schroeder, D., Miller, D ì and LeDoux, M.J. Neurosci. Res. 86: 2543-2552, 2008. 
  • Leucine-rich repeat kinase 2 colocalizes with a-synuclein in ì Parkinson's Disease, but non Tau-containing deposits in ì tauopathies.Perry, G., Zhu, X., Babar, A., Siedlak, S., Yang, Q., Ito, G., ì Iwatsubo, T., Smith, M. and Chen, S.Neurodegenerative Dis. 5: 222-224, 2008. 
  • Leucine-rich repeat kinase 2 colocalizes with a-synuclein in ì Parkinson's Disease, but not Tau-containing deposits in ì taupathies.Perry, G., Zhu, X., Babar, A., Siedlak, S., Yang, Q., Ito, G., ì Iwatsubo, T., Smith, M. and Chen, S.Neurodegen. Dis. 5:222-224, 2008. 
  • Regional distribution of tetrahydroisoquinoline derivatives in ì rodent, human, and parkinson's disease brain.DeCuypere, M., Lu, Y., Miller, D. and LeDoux, M.J of Neurochem 107: 1398-1413, 2008. 
  • Mapping metals in Parkinson's and normal brain using ì rapid-scanning x-ray fluorescence.Popescu, B., George, M., Bergmann, U., Garachtchenko, A., Kelly, ì M., McCrea, R., Luning, K., Devon, R., George, G., Hanson, A, ì Harder, S., Chapman, D., Pickering, I. and Nichol, H.Phys Med Biol 54: 651-663, 2009. 
  • Iron, copper, and zinc distribution of the cerebellum.Popescu, B., Robinson, C., Rajput, A., Rajput, A., Harder, S. andì Nichol, H.Cerebellum 8(2): 74-79, 2009. 
  • Genetic regulation of a-synuclein mRNA expression in various ì human brain tissues.Linnertz, C., Saucier, L., Ge, D., Cronin, K.D., Burke, J.R., ì Browndyke, J.N., Hulette, C.M., Wels-Bohmer, K.A., Chiba-Falek, ì O.PLoS ONE 4(10): e7480. 
  • The effect of SNCA 3' region on the levels of SNCA-112 splicing ì variant.McCarthy, J.J., Linnertz, C., Saucier, L., Burke, J.R., Hullette,ì C.M., Welsh-Bohmer, K.A. and Chiba-Falek, O.Neurogenetics:12, 59-64, 2011. 
  • Peripheral Neuropathy
  • Sensory nerve conduction deficit in experimental monoclonal ì gammopathy of undetermined significance (MGUS) neuropathy.Lawlor, M.W., Richards, M.P., Fisher, M.A. and Stubbs, E.B.Muscle Nerve 24: 809-816, 2001. 
  • Periventricular Leukomalacia
  • Developmental regulation of group I metabotropic glutamate ì receptors in the premature brain and their protective role in a ì rodent model of periventricular leukomalacia.Jantzie, L.L., Talos, D.M., Selip, D.B., An, L., Jackson, M.C., ì Folkerth, R.D., Deng, W., and Jensen, F.E.Neuron Glia Biology 6:277-288, 2011. 
  • Prader-Willi Syndrome
  • Methylation PCR analysis of Prader-Willi syndrome, Angelman ì syndrome, and control subjects.Muralidhar, B. and Butler, M.G.Amer. J. Med. Gen. 80:263-265, 1998. 
  • An imprinted, mammalian bicistronic transcript encodes two ì indepedent proteins.Gray, T., Saitoh, S. and Nicholls, R.Proc. Natl. Acad. Sci. 96: 5616-5621, 1999. 
  • Analysis of imprinted genes in subjects with Prader-Willi ì syndrome and chromosome 15 abnormalities.Muralidhar, B., Marney, A. and Butler, M.G.Genetics in Med. 1:141-145, 1999. 
  • Identification of novel imprinted transcripts in the Prader-Williì syndrome and Angelman syndrome deletion region: further evidenceì for regional imprinting control.Lee, Syann and Wevrick, R.Am. J. Hum. Genet., 66: 848-858, 2000. 
  • Small evoluntionarily conserved RNA, resembling C/D box small ì nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene ì in the Prader-Willi deletion region, which is highly expressed inì brain.de los Santos, T., Schweizer, J., Rees, C.A.and Francke, U.Am. J. Hum. Genet. 67:1067-1082, 2000. 
  • Expression and imprinting of MAGEL2 suggest a role in ì Prader-Willi syndrome and the homologous murine imprinting ì phenotype.Lee, S., Kozlov, S., Hernandez, L., Chamberlain, S., Brannan, C.,ì Stewart, C. and Wevrick, R.Human Molecular Genetics, 9: 1813-1819, 2000. 
  • Evidence for the role of PWCR1/HBII-85 C/D box small necleolar ì RNAs in Prader-Willi syndrome.Gallagher, R.C., Pils, B., Albalwi, M., and Francke, U.Amer. J. Hum. Gen. 71: 669-678, 2002. 
  • Ghrelin, peptide YY and their receptors: gene expression in ì brain from subjects with and without Prader-Willi syndrome.Talebizadeh, Z., Kibiryeva, N. Bittel, D. and Butler, M.Intern. J. Molecular Med. 14: 1-5, 2004. 
  • Genomic analysis of the chromosome 15q11-q13 Prader-Willi region ì and characterization of transcripts for GoLGA8E and WHCD1L` from ì the proximal breakpoint region.Jiang, Y., Wauki, K., Liu, Q., Bressler, J., Pan, Y., Kashork, C,ì Li, H., Shaffer, L. and Beaudet, A.BMC Genomics 9:50, 2008. 
  • The snoRNA HB11-52 regulates alternative splicing of the ì serotonin receptor 2C.Kishore, S. and Stamm, S.Science, 311: 230-232, 2006. 
  • X-Chromosome inactivation patterns in females with Prader-Willi ì Syndrome.Butler, M., Theodoro, M., Bittel, D., Kulpers, P., Discoll, D. ì and Talebizadeh, Z.Amer. J. Medical Genetics 143:469-475, 2007. 
  • Comparison of X chromosomes inactivation patterns in multiple ì tissues from human females.Bittel, D., Theodoro, M., Kibiryeva, N., Fischer, W., ì Talebizadeh, Z. and Butler, M.J. Med. Genet 45: 209-212, 2008. 
  • Whole genome microarray analysis of gene expression in ì Prader-Willi syndrome.Bittle, D.C., Kibiryeva, Sell, S.M., Strong, T.V. and Butler, M.Am. J. Med. Genet. A. 143A: 430-442, 2007. 
  • Ral guanine nucleotide dissociation stimulator (RALGDS), a ì potential target mRNA for HBII-85 snoRNA.Talebizadeh, Z., Theodoro, M., Fedorov, A. and Butler, M.Submitted. 
  • A Prader-Willi locus incRNA cloud modulates diurnal genes and ì energy expenditure.Powell, W..T.,Coulson, R.L., Crary, F.K., Wong, S.S., Ach, R.A., ì Tsang, P., Yamada, N.A., Yasui, A.H. and LaSalle, J.M.Human Molec Genetics 22:4318-4328, 2013. 
  • Rett Syndrome
  • Abnormal expression of microtubule-associated protein 2 (MAP-2) ì in neocortex in Rett syndrome.Kaufmann, W.E., Naidu ,S. and Budden, S.Neuropediatrics 26: 109-113, 1995. 
  • Abnormal expression of microtubule-associated protein 2 (MAP-2) ì in neocortex in Rett syndrome.Kaufmann, W.E., Naidu, S. and Budden, S.Neuropediatrics 26:109-113, 1995. 
  • Cyclooxygenase 2 expression during rat neocortical development ì and in Rett syndrome.Kaufmann, W.E., Worley, P.F., Taylor, C.V., Bremer, M. and ì Isakson, P.C.Brain Develop. 19:25-34, 1997. 
  • Abnormalities in neuronal maturation in Rett syndrome neocortex: ì preliminary molecular correlates.Kaufmann, W.E., Taylor, C.V., Hohmann, Sanwal, I.B. and Naidu, S.Eur. Child Adolesc. Psychiatry 6 (Suppl. 1): 75-77, 1997. 
  • Abnormalities in neuronal maturation in Rett syndrome neocortex: ì preliminary molecular correlates.Kaufmann WE, Taylor CV, Hohmann CF, Sanwal IB, Naidu SAdolesc Psychiatry 6 (Suppl 1): 75-77, 1997. 
  • Altered development of glutamate and GABA receptors in the basal ì ganglia of girls with Rett syndrome.Blue, M.E., Naidu, S. and Johnston, M.V.Exper. Neurol. 156:345-352, 1999. 
  • Development of amino acid receptors in frontal cortex from girls ì with Rett syndrome.Blue, M.E., Naidu, S. and Johnson, M.Ann. Neurol. 45:541-545, 1999. 
  • Development of amino acid receptors in frontal cortex from girls ì with Rett syndrome.Blue, M.E., Naidu, S. and Johnston, M.V.Ann. Neurol. 45:541-545, 1999. 
  • Altered cholinergic function in the basal forebrain of girls withì Rett syndrome.Wenk, G.L. and Hauss-Wegrzyniak, B.Neuropediatrics 30:125-129, 1999. 
  • Dendritic cytoskeletal protein expression in mental retardation: ì an immunohistochemical study of the neocortex in Rett syndrome.Kaufmann, W.E., MacDonald, S.M. and Altamura, C.R.Cerebral Cortex 10:992-1004, 2000. 
  • Cortical development in Rett syndrome: molecular, neurochemical,ì and anatomical aspects.Kaufmann, W.E.Rett Disorder and the Developing Brain, Chapter 4: 85-110, 2005. 
  • Gene expression profiling in postmortem Rett Syndrome brain: ì differntial gene expression and patient classification.Colantuoni, C., Jeon, O.-H., Hyder, K., Chencik, A., Khimani, ì A.H., Narayanan, V., Hoffman, E.P., Kaufmann, W.E., Naidu, S. ì and Pevsner, J.Neurobiology of Disease 8, 847-865, 2001. 
  • Gene expression profiling in postmortem Rett Syndrome brain: ì differntial gene expression and patient classification.Carlo Colantuoni, Ok-Hee Jeon, Karim Hyder, Alex Chencik, Anis H.ì Khimani, Vindoh Narayanan, Eric P. Hoffman, Walter E. Kaufmann, ì Akkubair Naidu, and Jonathan Pevsner.Neurobiology of Disease 8: 847-865, 2001 
  • Gene expression profiling in postmortem Rett syndrome brain: ì differential gene expression and patient classification.Colantuoni, C., Jeon, O.-H., Hyder, K., Chenchik, A., Khimani, ì A.H., Narayanan, V., Hoffman, E.P., Kaufmann, W.E., Naidu, S. ì and Pevsner, J.Neurobiolgy of Disease 8, 847-865, 2001. 
  • MeCP2 expression in human neocortex.Kaufmann, W.E., Jarrar, M.H. and MacDonald, S.M.Brain Dev. 24:392, 2002. 
  • Elevated methyl-CpG-binding protein 2 expression is acquired ì during postnatal human brain development and is correlated with ì alternative polyadenylation.Balmer, D., Goldstine, J., Rao, Y.M., and LaSalle, J.J. Mol. Med. 81: 61-68, 2002. 
  • MeCP2 expression in human cerebral cortex and lymphoid cells: ì immunochemical characterization of a novel higher molecular ì weight form.Jarrar, M., Danko, C., Reddy, S., Lee, Y., Bibat, G. and ì Kaufmann, W.J. Child Neurol. 18: 675-682, 2003. 
  • Methy-CpG-binding protein 2 is localized in the postsynaptic ì compartment: an immunochemical study of subcellular fractions.Aber, K.M., Nori, P., MacDonald, S., Bibat, G., Jarrar, M.H., andì Kaufmann, W.E.Neuroscience 116: 77-80, 2003. 
  • X-Chromosome inactivation ratios affect wild-type McEp2 ì expression within mosaic Rett syndrome and Mecp2-/+ mouse brain.Braunschweig, D., Simcox, T., Samaco, R. and LaSalle, J.Human Molecular Genetics 13: 1275-1286, 2004. 
  • McEP2 deficiency in Rett Syndrome causes epigenetic aberrations aì the PWS/AS imprinting center that afects UBE3A expression.Makedonski, K., Abuhatzira, L, Kaufman, Y., Razin, A. and Shemer,ì R.HMG 14: 1049-1058, 2005. 
  • Inhibitors of differentiation (ID1, ID2, ID3, ID4) genes are ì neuronal targets of MeCP2 that are elevated in Rett syndrome.Peddada, S., Yasui, H. and LaSalle, J.Hum Mol Genet 15: 2003-2014, 2006. 
  • MeCP2 deficiency in the brain decreases BDNF levels by ì REST/CoREST-mediated repression and increases TRKB production.Abuhatzira, L., Makedonski, K., Kaufman, Y, Razin, A. and Shemer,ì R.Epigenetics 2:4, 214-222, 2007. 
  • MeCP2 deficiency in the brain decreases BDNF levels by ì REST/CoRest-mediated repression and increases TRKB production.Abuhatzira, L., Makedonski, K., Kaufman, Y., Razin, A. and ì Shemer, R.Epigenetics 2:4, 1-9, 2007. 
  • MeCP2 involvement in the regulation of neuronal a-tubulin ì production.Abuhatzira, L., Shemer, R. and Razin, A.HMG 18: 1-9, 2000. 
  • Dendritic spine pathologies in hippocampal pyramidal neurons fromì Rett snydrome brain and after expression of Rett-associated ì MECP2 mutations.Chapleau, C., Calfa, G., Lane, M., Albertson, A., Larimore, J., ì Kudo, S., Armstrong, D., Percy, A. and Pozzo-Miller, L.Neurobiology of Disease 35: 219-233, 2009. 
  • Ocular MECP2 protein expression in patients with and without Rettì Syndrome.Jain, D., Singh, K., Chirumamilla, S., Bibat, G.M., Blue, M.E., ì Naidu, S.R., Eberhart, C.G.Pediatric Neurology 43(1): 35-40, 2010. 
  • Rett Syndrome / Angelman Syndrome
  • MeCP2 deficiency in Rett syndrome causes epigenetic aberrations ì at the PWS/AS imprinting center that affect UBE3A expressionMakedonski, K., Abuhatzira, L., Kaufman, Y., Razin, A. and ì Shemer, R. H. Mol. Genet. 14: 1049-1058, 2005. 
  • Sandoff Disease
  • Comparative analysis of brain lipids in mice, cats, and humans ì with Sandhoff disease.Baek, R.44:197-205, 2009., Martin, D., Cox, N and Seyfried, T.Lipids 44: 197-205, 2009. 
  • Schizophrenia
  • Histone methylation at gene promoters is associated with ì developmental regulation and region-specific expression of ì ionotropic and metabotropic glutamate receptors in human brain.Stadler, F., Kolb, G., Rubusch, L., Baker, S., Jones, E. and ì Akbarian, S.J. Neurochem. 94: 324-336, 2005. 
  • Ultrastructural localization of reelin in the cortex in ì post-mortem human brain.Roberts, R., Xu, L., Roches, J. and Kirkpatrick, B.J. Comparative Neurology 482: 294-308, 2005. 
  • Allelic expression of serotonin transporter (SERT) mRNA in human ì pons: lack of correleation with polymorpshism SERTLPR.Lim, J., Pinsonneault, J., Sadee, W. and Saffen, D.Molecular Psychiatry 1-14, 2006. 
  • Typtophan hydroxylase 2 (TPH2) haplotypes predict levels of TPH2 ì mRNA expression in human pons.Lim, J., Pinsonneault, J., Sadee, W. and Saffen, D.Molecular Psychiatry 1-11, 2006. 
  • Molecular neurocytogenetics demonstrates oncogenic parallels in ì schizophrenia: implications for neuroprotection and ì neuroregeneration.Iourov, I., Vorsanova, S. and Yorov, Y.IJNN 2:212-214, 2006. 
  • Prefrontal Dysfunction in schizophrenia involves mixed-lineage ì leukemia 1-regulated histone methylation at GABAergic gene ì promotersHuang, H., Matevossian, A., Whttle, C., Kim, S., Schumacher, A., ì Baker, S. and Akbarian, S.J. Neurosci. 24:11254-11262, 2007. 
  • Developmental regulation of the NMDA receptorsSubunits, NR3A and ì NR1, in human prefrontal cortex.Henson, M., Roberts, A., Salimi, K., Vadlamudi, S., Hamer, R. ì Gilmore, J., Jarskog, L. and Philpot, B.`Cerebral Cortex 18:2560-2573, 2008. 
  • Expression profiles of schizophrenia susceptibility genes during ì human prefrontal cortical development.Choi, K., Zepp, M., Higgs, B, Weichert, C and Webster, M.J Psychiatry Neursci 34: 450-458, 2009 
  • DISC1 splice variants are upregulated in schizophrenia and ì associated with risk polymorphisms.Nakata, K., Lipska, B.K., Hyde, T.M., Ye, T., Newburn, E.N., ì Morita, Y., Vakkalank, R., Bernboim, M., Sei, Y., Weinberger, ì D.R. and Kleinman, J.E.Proc. Natl. Acad. Sci. USA 106: 15873-15878, 2009. 
  • Cingulate white matter neurons in bipolar disorder and ì schizophrenia.Connor, C.M., Guo, Y., and Akbarian, S.Biological Psychiatry 66(5): 486-493, 2009 
  • A novel, primate-sepecific brain isoform of KCNH2 impacts ì cortical physiology, cognition, neuronal repolarization, and riskì for schizophrenia.Huffaker, S.J., Chen, J., Nicodemus, K.K., Sambataro, F., Yang, ì F., Mattay, V., Lipska, B.K., Hyde, T.M., Song, J., Rujescu, D., ì Giegling, I., Mayilyan, K., Soghoyan, A., Caforio, G., Bertolino,ì A., Chang, J., Egan, M. and Kleinman, J.E.Nature Medicine 15: 509-518, 2009. 
  • Gene expression in the prefrontal cortex during adolescence: ì implications for the onset of schizophrenia.Harris, L.W., Lockstone, H.E., Khaitovich, P., Weickert, C.S., ì Webster, M.J., Bahn, S.BMC Medical Genomics 2:28, 2009. 
  • Common genetic variation in Neuregulin 3 (NRG3) influences risk ì for schizophrenia and impacts NRG3 expresssion in human brain.Kao, W.-T., Wang, Y., Kleinman, J.E., Lipska, B.K., Hyde, T.M., ì Weinberger, D.R. and Law, A.J.www.pnas.org/cgi/doi/10.1073/pnas.1005410107 
  • Genetic variation in CACNA1C affects brain circuitries related toì mental illness.Bigos, K., Mattay, V., Callicott, J., Straub, R., Vakkalanka, R.,ì Kolachana, B., Hyde, T., Lipska, B., Kleinman, J. and ì Weinberger, D.Arch Gen Psychiatry 67: 939-945, 2010. 
  • Interacitons of human truncated DISC1 proteins: implications for ì schizophrenia.Newburn, E., Hyde, T., Moritoa, Y., Weinberger, D., Kleinman, J. ì and Lipska, B.Transl Psychiatry 1: e30, 2011. 
  • Expression of GABA Signaling Molecules KCC2, NKCC1, and GAD1 in ì Cortical Development and Schizophrenia.Hyde, T., Lipska, B., Ali, T., Mathew, S., Law, A., Metitiri, O.,ì Straub, R., Ye, T., Colantuoni, C., Herman, M., Bigelow, L., ì Weinberger, D. and Lkeinman, J.J of Neuroscience 31: 11088-11095, 2011 
  • Transcript-Specific Associations of SLC12A5 (KCC2) in Human ì Prefrontal Cortex with Development, Schizophrenia, and Affective ì Disorders.Tao, R., Li, C. Newburn, E., Ye, T., Lipska, B., Herman, M. ì Weinberger, D., Kleinman, J. and Hyde, T.J of Neuroscience 32: 5216-5222, 2012 
  • Contrasting changes in DRD1 and DRD2 splice variant expression inì schizophrenia and affective disorders, and associations with ì SNPs in postmortem brain.Kaalund, S.S., Newburn, E.N., Ye, T., Tao,R.,Li, C., ì Deep-Soboslay, A., Herman, M.M., Hyde, T.M., Weinberger, D.R., ì Lipska, B.K., and Kleinman, J.E.Mol. Psychiatry (2013), 1-9. 
  • Contrasting changes in DRD1 and DRD2 splice variant expression inì schizophrenia and affective disorders, and associations with ì SNPs in postmortem brain.Kaalund, S.S., Newburn, E.N., Ye, T., Tao, R., Li, C., ì Deep-Soboslay, A., Herman, M.M., Hyde, T.M., Weinberger, D.R., ì Lipska, B.K., and Kleinman, J.E.Mol. Psychiatry (2013), 1-9. 
  • Revisiting DARPP-32 in postmortem human brain: changes in ì schziprenia and bipolar disorder asociations with t-DARPP-32 ì expression.Kunii, Yl, Hyde, T.M., Ye, T., Li, C., Kolachana, B., Dickinson, ì D., Weinberger, D.R., Kleinman, J.E. and Lipska, B.K.Mol. Psych. 19:192-199, 2014. 
  • Characteristics of the cation cotransporter NKCC1 in human brain:ì Alternate transcripts, expresson indevelopment, andpotential ì relationships to brain functionand schizophrenia.Morita,Y. et al.J. Neurosci. 34:4929-4940, 2014. 
  • Effects of schizophrenia risk vaiations in the NRG1 gene on ì NRG1-IV splicing during fetal and early postnatal human ì neocortical development.Paterson, C., Wang, Y., Kleinman, J.E. and Law, A.J.Journal of Psychiatry In Press 
  • Characteristics of the cation cotransporter NKCC1 in human brain:ì Alternate transcripts, expresson indevelopment, andpotential ì relationships to brain functionand schizophrenia.Morita,Y. et al.J. Neurosci. 34:4929-4940, 2014. 
  • Revisiting DARPP-32 in postmortem human brain: changes in ì schziprenia and bipolar disorder asociations with t-DARPP-32 ì expression.Kunii, Yl, Hyde, T.M., Ye, T., Li, C., Kolachana, B., Dickinson, ì D., Weinberger, D.R., Kleinman, J.E. and Lipska, B.K.Mol. Psych. 19:192-199, 2014. 
  • Scleroderma
  • Opposing effects of protein kinase C a and protein kinase C B on ì collagen expression by human lung fibroblasts are mediated via ì MEK/ERK and caveolin-1 signaling.Tourkina, E., gooz, Pl, Pannu, J., Bonner, M., Scholz, D., ì Hacker, S., Silver, R., Trojanowska, M. and Hoffman, S.J. Biol. Chem. 280: 13879-13887, 2005. 
  • Smith-Lemli-Optiz Syndrome
  • Development and characterization of a hypomorphic ì Smith-Lemli-Opitz syndrome mouse model and efficacy of ì simvastatin therapy.Correa-Cerro, L., Wassif, C., Kratz, L., Miller, G., Munasinghe, ì J., Grinberg, A., Fliesler, S. and Porter, F.Human Molecular Genetics, 15: 839-851, 2006. 
  • Spasmodic Dysphonia
  • Focal white matter changes in spasmodic dysphonia: a combined ì diffusion tensor imaging and neuropathological study.Simonyan, K., Tovar-Moll, F., Ostuni, J. Hallett, M, Kalasinsky, ì V., Lewin-Smith, M., Rushing, E., Vortmeyer, A. and Ludlow, C.Brain 131: 447-459, 2008. 
  • Spinal Muscular Atrophy
  • A gene for a severe lethal form of X-linked arthrogryposis ì (X-linked infantile spinal muscular atrophy) maps to human ì chromosome Xp11.3-q11.2.Kobyashi, H., Baumbach, L., Matise, T., Schiavi, A., Greenberg, ì F. and Hoffman, E.Human Molecular Genetics 4:7, 1995. 
  • Histone deacetylase inhibition suppresses myogenin-dependent ì atrogene activation in spinal muscular atrophy miceBricceno, K.V., Sampognaro, P.J., Van Meerbeke, J.P., Sumner, ì C.J., Fischbeck, K.H. and Burnett, B.G.Human Molec. Gen. 21 (20) 4448-4459, 2012. 
  • SMN is essential for the biogenesis of U7 small nuclear ì ribonudleoprotein and 3'-end formation of histone mRNAs.Tisdale, S., Lott, F., Saieva,, L., Van Meerbeke, J.P., Crawford,ì T.O., Summer, C.J., Mentis, G.Z., and Pellizzoni, L.Cell Reports 5:1187-1195, 2013. 
  • Spinocerebellar Ataxia
  • Synchrotron X-ray fluorescence reveals abnormal metal ì distributions in brain and spinal cord in spinocerebellar ataxia:ì a case reportPopescu, B.F., Robinson, C.A., Chapman, L.D. and Nichol, H.Cerebellum 8(3): 340-351, 2009. 
  • Sturge Weber Syndrome
  • Increased fibronectin expression in Sturge-Weber syndrome ì fibroblasts and brain tissue.Comi, A., Hunt, P., Vawter, M., Pardo, C., Becker, K. and ì Pevsner, J.Pediatric Research 53: 762-769, 2002. 
  • Sturge-Weber Syndrome: altered blood vessel fibronectin ì expression and morphology.Comi, A., Weisz, C., Highet, B., Skolasky, R., Pardo, C. and ì Hess, E.J. Child Neurology 20: 572-577, 2005. 
  • Cell proliferation and oxidative stress pathways are modified in ì fibroblasts from Sturge-Weber syndrome patients.Kadam, S., Gucek, J., Cole, R., Watkins, P. and Comi, A.Arch Dermatol Res 304: 229-235, 2012. 
  • Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic ì Mutation in GNAQ.Shirleym M., Tang, H., Gallione, C,. Baugher, J., Frelin, L., ì Cohen, B., North, P., Marchuk, D., Comi, A. and Pevsner, J.N. Engl. J. Med. 370:1209-1219, 2014. 
  • Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic ì Mutation in GNAQShirleym M., Tang, H., Gallione, C,. Baugher, J., Frelin, L., ì Cohen, B., North, P., Marchuk, D., Comi, A. and Pevsner, JN. Engl. J. Med. 370:1209-1219, 2014. 
  • Sudden Infant Death Syndrome
  • The apolipoprotein e2 allele is more frequent in African Americanì Sudden Infant Death Syndrome.Donlon, T.A., Zielke, H.R., Vigorito, R.D., Eberly, A., Li., C. ì And Crowell, D.Neurogenetics (Submitted) 
  • Vascular endothelial growth factor in the cerebrospinal fluid of ì SIDS infants: Evidence for antecedent hypoxia.Jones, K.L., Krous, H.F., Nadeau, J, Zielke, H.R. and Gozal, D.Peditrics 111: 358-363, 2003. 
  • Involvement of mast cells in Sudden Infant Death Syndrome.Platt, M.S., Yunginger, J.W., Sekula-Perlman, A., Irani, A.M., ì Smialek, J.E., Mirchandani, H.G. and Schwartz, L.B.J. Allergy Clin. Immunol. 94:250-256, 1994. 
  • Endotoxemia in Sudden Infant Death Syndrome.Platt, M.S., Elin, R.J., Hossieni, J.M. and Smialek, J.E.American J. Forensic Med. Path. 15:261-265, 1994. 
  • Cytochrome P450 2D6 and glutathione S-transferase genotype in ì Sudden Infant Death Syndrome.Chen, C.L., Liu, Q., Evans, W.E., Sander, C.H. and Relling, ì M.V.J. Paed. & Child Health.33:31-37, 1997. 
  • Retrospective biochemical screening of fatty acid oxidation ì disorders in postmortem livers of 418 cases of sudden death in ì the first year of life.Boles, R.G., Buck, E.A., Blitzer, M.G., Platt, M.S., Cowan, T.M.,ì Martin, S.K., Yoon, H.-R., Madsen, J.A., Reyes-Mugica, M. and ì Rinaldo, P.J. Pediatr. 132:924-933, 1998. 
  • Failure to detect elevated levels of carboxyhemoglobin in infantsì dying from SIDS.Meny, R.G., Vreman, H.J., Stevenson, D.K., Hauck, F.R., Donoghue,ì E.R., Smialek, J.E., Fowler, D.R., Zielke, H.R. J. Forensic Sciences 47: 660-662, 2002. 
  • Vascular endothelial growth factor in the cerebrospinal fluid of ì infants who died of sudden infant death syndrome: evidence for ì antecedent hypoxia.Jones, K., Krous, H., Nadeau, J., Blackbourne, B., Zielke, H.R., ì and Gozal, D.Pediatrics 111:358-363, 2003. 
  • Sudden infant death syndrome: association with a promotor ì polymorphism of the serotonin transporter gene.Weese-Mayer, D.E., Berry-Kravis, E.M., Maher, B.S., Silvestri, ì J.M., Curran, M.E., Marazita, M.L.Amer. J. Med. Gen. 117A: 268-274, 2003. 
  • Association of the serotonin transporter gene with Sudden Infant ì Death Syndrome: a haplotype analysis.Weese-Mayer, D., Zhou, L., Berry-Kravis, E., Maher, B., ì Silvestri, J. and Marazita, M.Amer. J. Med. Gen. 122A: 238-245, 2003. 
  • Sudden Infant Death Syndrome: case-control frequency differencesì at genes pertinent to early autonomic nervous system ì embryologic development.Weese-Mayer, D., Zhou, L., Berry-Kravis, E., Silvestri, B., ì Maher, B., Curran, M and Marazita, MPediatric Research 56: 391-395, 2004. 
  • Sudden infant death syndrome: Case-Control frequency differencesì in paired like homeobox (PHOX) 2B gene.Rand, C., Weese-Mayer, D., Zhou, L., Maher, B., Cooper, M., ì Marazita, M. and Berry-Kravis, E.Amer. J. Med. Gen,.140:1687-1691, 2006. 
  • The 3' UTR polymorphism of the serotonin transporter gene and ì sudden infant death syndrome: a haplotype analysis.Maher, B., Marazita, M., Zhou, L., Berry-Kravis, E. and ì Weese-Mayer, D.Amer. J .Med. Gen. 140A: 1453-1457, 2006. 
  • Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant ì death syndrome.Rand, C., Weese-Mayer, D., Maher, B., Zhou, L., Marazita, M. and ì Berry-Kravis, E.Amer. J. Med. Gen. 140: 1447-1452, 2006. 
  • Magnesium deficiency in the very young is a major cause of the ì sudden infant death syndrome (SIDS).Caddell, J., Greenspan, J., Li, L., Glutting, J. and Fowler, D.Pediatrics, submitted. hrz 8-4-10 this paper has/should not be published 
  • Sudden Infant Death Syndrome: review of implicated genetic ì factors.Weese-Mayer, D., Ackerman, M., Marazita, M. and Berry-Kravis, E.Am J of Med Genetics 143A: 771-788, 2007. 
  • Sudden Infant Death Syndrome: rare mutation in the serotonin ì system FEV sene.Rand, C., Berry-Kravis, E., Zhou, L., Fan, W and Weese-Mayer, D.Pediatric Research 62: 180-182, 2007. 
  • Genetic variation in the HTR1A gene and sudden infant death ì syndrome.Morley, M., Rand, C., Berry-Kravis, E., Zhou, L., Fan, W. and ì Weese-Mayer, D.Amer. J. Med. Gen. Part A 146A:930-933, 2008. 
  • Tay-Sachs Disease
  • Microglial activation precedes acute neurodegeneration in ì Sandhoff disease and is suppressed by bone marrow ì transplantation.Wada, R., Tifft, C. and Proia, R.PNAS, 97: 10954-10959, 2000. 
  • Presence of an unusual GM2 derivative, taurine-conjugated GM2, inì Tay-Sachs brain.Li, Y., Maskos, K., Chou, C., Cole, R. and Li, S.J. Biol. Chem. 278: 35286-35291, 2003. 
  • Thymidine Phosphorylase Defiency
  • Site-specific somatic mitochondrial DNA point mutations in ì patients with thymidine phosphorylase deficiency.Nishigaki, Y., Marti, R., Copeland, W. and Hirano, M.J. Clin. Invest. 111: 1913-1921, 2003. 
  • ND5 is a hot-spot for multiple atypical mitochondrial DNA ì deletions in mitochonrial meurogastointestinal encephalomyopathy.Nishigaki, Y., Marti, R. and Hirano, M.Human Molecular Genetics 13: 91-101, 2004. 
  • Tuberous Sclerosis
  • Selective alterations in glutamate and GABA receptor subunit mRNAì expression in dysplastic neurons and giant cells of cortical ì tubers.White, R., Hua, Y., Scheithauer, B., Lynch, D.R., Henske, E.P. ì and Crino, P.B.Ann. Neurol. 49: 67-78, 2001. 
  • Interferon-y-Jak-Stat signaling in pulmonary ì lymphangioleiomyomatosis and renal angiomyolipoma.El-Hashemite, N. and Kwiatkowski, D.Amer. J. Respir. Cell. Mol. Biol. 33: 227-230, 2005. 
  • Tuberin Regulates OGG, in Renal Epithelial Cells and Kidney ì Tumors from Humans with Tuberous Sclerosis.Habib, S.Submitted, 2006, Oncogene 
  • Cell-Specific Alterations of Glutamate REceptor Expression in ì Tuberous Sclerosis Complex Cortical Tubers.Talos, D., Kwiatkowski, D., Cordero, K., et alAnn Neurol 63: 454-465, 2008 
  • Genetic polymorphisms in OGG, and it's association with ì angiomyolipomas, a benign kidney tumor in patients with tuberousì sclerosis.Habib, S., Daniel, E., Subrats, N., Schneider, J., Duggirals, R, ì Abbouol, H and thameem, F.Cancer Biology & Therapy 7:1-5, 2008. 
  • Insight into mechanism of oxidative DNA damage in angiomyolipomasì from TSC patients.Habib, S.Molecular Cancer 8:13, 2009. 
  • TSC2 Deficiency increases PTEN via HIF1 alpha.Mahimainathan, L., Ghosh-Choudhury, N., Venkatesan, B., Das, F., ì Mandal, C., Dey, N., Habib, S., Kasinath, B., Abboud, H. and ì Choudhury, G.J. Biol. Chem. 284: 2790-27798, 2009. 
  • Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 ì and KRAS demonstrates that small second-hit mutations in these ì genes are rare events.Qin, W., Chan, J.A., Vinters, H.V., Mathern, G.W., Franz, D.N., ì Taillon, B.E., Bouffard, P. and Kwiatkowski, D.J.Brain Pathology ISSN 1015-6305, 2010. 
  • S6K1 is multifaceted regulator of Mdm2 that connects nutrient ì status and DNA damage response.Lai, K., Leong, W., Chau, J., Jia, D., Zeng, L., Liu, H., He, L.,ì Hao, A., Zhang, H., Meek, D., Velagapudi, C., Habib, S. and Li, ì B.EMBO Journal 29;2994-3006, 2010. doi:10.1038/emboj.2010.166 
  • Altered Inhibition in TUberous Sclerosis and Type IIb Cortical ì Dysplasia.Talos, D., Sun, H., Kosaras, B., et alAnn Neurol 71:539-551, 2012 
  • Novel mechanism of regulation of fibrosis in kidney tumor with ì tuberous sclerosis.Liang, S., Cuevas, G., Tizani, S., Salas, T., Liu, H., Li, B. andì Habib, S.L.Molecular Cancer 12, 2013. 
  • MEK-ERK1/2-dependent FLNA overexpression promotes abnormal ì dendritic pattererning in tuberous scleorosis independent of mTORZhang, L., Bartley, C.M., Gong, X., Hsieh, L.S., Lin,T.V., ì Feliciano,D.M., and Bordey, A.Neuron 84:1-14, 2014. 
  • Neural Tsc1/2 complex controls autophagy through AMPK-dependent ì regulation of ULK1.Di Nardo, A. et al.Human Molecular Genetics 2014, 1-10. 
  • Developmental brain abnormalities in tuberous sclerosis complex: ì A comparative tissue analysis of cortical tubers and perituberal ì cortex.Ruppe, V., Dilsiz, P.,Reiss, C.S., Carlson,C., Devinsky,O., ì Zagzag, D., Weiner, H.L. and Talos, D.M.Epilepsia 55:539-550, 2014. 
  • Neural Tsc1/2 complex controls autophagy through AMPK-dependent ì regulation of ULK1.Di Nardo, A. et al.Human Molecular Genetics 2014, 1-10. 
  • Vanishing White Matter Disease
  • elF2B-Related disorders: Antenatal onset and involvement of ì multiple organs.van der Knaap, van Berkel, C.G.m, Herms, J., can Coster, R., ì Baethmann, M., Naidu, S., Blothauser, E., Willemsen, M.A.A.P., ì Plecko, B., Hoffmann, G.F., Proud, C.G., Scheper, G.C. and Pronk,ì J.C.Am. J. Hum. Genet. 73:1199-1207, 2003. 
  • elF2B-Related Disorders: Antenatal onset and involvement of ì multiple organsvan der Knaap, van Berkel, C.G.m, Herms, J., can Coster, R., ì Baethmann, M., Naidu, S., Blothauser, E., Willemsen, M.A.A.P., ì Plecko, B., Hoffmann, G.F., Proud, C.G., Scheper, G.C. and Pronk,ì J.C.Am. J. Human Genetics 73:1199-1207, 2003 
  • Glia-specific activation of all pathways of the unfolded protein ì response in vanishing white matter disease.Kollenburg, B., van Dijk, J., Garbern, J., Thomas, A., Scheper, ì G., Powers, J. and van der Knapp, M.J. Neuropathol. Exp. Neurol. 65:707-715, 2006. 
  • Defective Glial Maturation in Vanishing White Matter DiseaseBugiani, M., Boor, I., van Kollenburg, B., Postma, N., Polder, ì E., van Berkel, C., van Kesteren, R., Windrem, M., Hol, E., ì Scheper, G., Goldman, S., van der Knaap, M.J Neuropathol Exp Neurol 70: 69-82, 2011. 
  • Leukoencephalopathy with vanishing white matter: A reviewBugiani, M., Boor, I., Powers, J., Scheper, G., van der Knaap, M.J Neuropathol Exp Neurol 69: 987-996, 2010. 
  • Hyaluronan accumulation and arrested oligodendrocyte progenitor ì maturation in vanishing white matter disease.Bugiani, M., Postma, N., Polder, E., Dieleman, M., Scheffer, P., ì Sim, F., van der Knapp, M. and Boor, I.Brain 136: 209-222, 2013 
  • von Hippel-Lindau Disease
  • Developmentally arrested structural elements preceding CNS ì tumorigenesis in VHL diseaseShively, S.B., Falke,E.A., Li, J.,Tran, M.G.B.., Thompson, E.R..,ì Maxwell, P.H., Roessler, E., Oldfield, E.H., Lonser, R.R., and ì Vortmeyer, A.O.Modern Pathology 24:1023-1030, 2011. 
  • Walker-Warburg Syndrome
  • Walker-Warburg syndrome: neurologic features and muscle membrane ì structure.Kanoff, R., Curless, R., Petito, C., Siatkowski, R. and Pegoraro,ì E.Pediatric Neurology 18 (1): 76-80, 1998. 
  • Wilms Tumor
  • Glypican-3 expression in Wilms tumor and hepatoblastoma.J. A. Toretsky, J.A., Zitomersky, N.L., Eskenazi, A.E., Voigt, ì R.W., Strauch, E.D., Sun, C.C., R. Huber, R., Meltzer, S.J., and ì Schlessinger, D.J. Pediatric Hematology/Oncology, 23:496-499, 2001. 
  • Zellweger Syndrome
  • Altered phospholipid molecular species and glycolipid compostion ì in brain, liver and fibroblasts of Zellweger syndrome.Miyazaki, C., Saitoh, M., Itoh, M., Yamashita, S., Miyagishi, M.,ì Takashima, S., Moser, A.B., Iwamori, M. and Mizuguchi, M. Neuroscience Letters 552:71-75, 2013. 
  • Altered phospholipid molecular species and glycolipid compostion ì in brain, liver and fibroblasts of Zellweger syndrome.Miyazaki, C., Saitoh, M., Itoh, M., Yamashita, S., Miyagishi, M.,ì Takashima, S., Moser, A.B., Iwamori, M. and Mizuguchi, M. Neuroscience Letters 552:71-75, 2013.