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Publications Utilizing Tissue Donations

    Adrenoleukodystrophy
  • Brain, liver, and adipose tissue erucic and very long chain fatty acid levels in adrenoleukodystrophy patients treated with glyceryl trierucate and trioleate oils (Lorenzo's Oil).Rasmussen, M., Moser, A.B., Borel, J., Khangoora, S. and Moser, H.W.Neurochem. Res. 19:1073-1082, 1994. 
  • Human leukocyte antigens and cytokine expression in cerebral inflammatory demylinative lesions of X-linked adrenoleukodystrophy and multiple sclerosis.McGuiness, M.C., Powers, J.M., Bias, W.B., Schmeckpeper, B.J., Segal, A.H., Gowda, V.C., Wesselingh, S.L., Berger, J., Griffin, D.E. and Smith, K.D.J. Neuroimmun. 75 (1-2): 174-182, 1997. 
  • Cytokine-induced accumulation of very long chain fatty acids in 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 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 matter lesion of Adrenleukodystrophy: morphologic evidence for CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and CD1-mediated lipid antigen presentation.Ito, M., Blumberg, B., Mock, D., Goodman, A., Moser, A., Moser, H. Smith, K. and Powers, J.JNEN 60: 1004-1019, 2001. 
  • Potential environmental and host participants in the early white matter lesions of adrenoleukodystrophy: morphologic evidence for CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and CD1-mediated lipid antigen presentation.Ito, M., Blumberg, B., Mock, D., Goodman, A., Moser, A., Moser, H. Smith, K. and Powers, J.JNEN 60: 1004-1019, 2001. 
  • Potential environmental and host participants in the early white matter lesion of adrenoleukodystrophy: morphologic evidence for CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and CD1-mediated lipid antigen presentation.Ito, M., Blumberg, B., Mock, D., Goodman, A., Moser, A., Moser, H., Smith, K. and Powers, J.JNEN 60: 1004-1019, 2001. 
  • Correlation of very long fatty acids accumulation and inflammatory disease progression in childhood X-ALD: implications for potential therapies.Paintlia, A.S., Gilg, A.G., Khan, M., Singh, A.K., Barbosa, E., and Singh, I.Neurobiology of Disease 14: 425-439, 2003. 
  • Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque,B., Vidaud, M. and Aubourg, P.Human Mol. Gen. 14:1293-1303, 2005. 
  • Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque, B., Vidaud, M. and Aubourg, P.Human Molecular Genetics, 14(10): 1293-1303, 2005. 
  • Lipopolysaccharide-induced peroxisomal dysfunction exacerbates 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 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 X-Linked adrenoleukodystrophy?Eichler, F., Ren, J., Cossoy, M., Rietsch, A., Nagpal, S., Moser, A., Frosch, M. and Ransohoff, R.Ann Neurol 63: 729-742, 2008. 
  • Very long-chain fatty acid accumulation causes lipotoxic response 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 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 noninflammatory myelopathy.Powers, J.M., DeCiero, D.P., Masumi, I., Moser, A.B., and Moser, H.W.J. Neuropath. Exp. Neurol. 59:89-102, 2000. 
  • Aicardi Goutieres Syndrome
  • Aicardi-Goutieres syndrome barbours abundant systemic and brain-reactive autantiodies.Cuadrado, E. et al.Ann. Rheum. Dis. On Line 
  • Aicardi-Goutieres syndrome barbours abundant systemic and brain-reactive autantiodies.Cuadrado, E. et al.Ann. Rheum. Dis. On Line 
  • AIDS
  • Hippocampal injury and alterations in neuronal chemokine co-receptor expression in patients with AIDS.Petito, C., Roberts, B., Cantando, J., Rabinstein, A. and Duncan, R.J. Neuropathol. Exp. Neurol. 60:377-385, 2001. 
  • Detection of HIV-1 gene sequences in hippocampal neurons isolated from postmortem AIDS brains by laser captures microdissection.Torres-Munoz, J., Sockton, P., Tacoronte, N., Roberts, B., Maronpot, R.R., and Petitio, C.K.J. Neuropathol. Exp. Neurol. 60(9), 885-892, 2001. 
  • Compartmentalization of HIV-1 in the CNS: role of the choroid plexus.Burkala, E., Jun, H., West, J., Wood, C., and Petito, C.AIDS 19:675-684, 2005. 
  • Compartmentalization of HIV-1 in the central nervous system: role of the choroid plexus.Burkala, E.J., He, J., West, J.T., Wood, C., and Petito, C.K.AIDS 19(7):675-684, 2005. 
  • Brain CD8+ and cytotoxic T lymphocytes are associated with, and may be specific for, human immunodeficiency virus type 1 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 genomic amplicficaiton to detect HIV-1 sequences in single neurons removed from autopsy brain sections by laser capture 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 with Alexander's disease.Castellani, R.J., Perry, G. Harris, PlL., Monnier, V.M., Cohen, 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, L.M., Salomon, R.G. and Smith, M.A.Brain Res. 787:15-18, 1998. 
  • 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. 
  • Recent studies on Alexander disease.Johnson, A.B. and Chiu, F.-C.J. Mol. Neurosci. 12:202, 1999. 
  • High-molecular-weight GFAP-positive aggregates in Alexander's disease.Johnson, A.B. and Chiu, F.-C.J. Mol. Neurosci. 13:230-231, 1999. 
  • Oxidative protein modifications in Rosenthal fibers: implications 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 associated with Alexander disease.Brenner, M., Johnson, A., Boespflug-Tanguy, O., Rodriguez, D., Goldman, J. and Messing, A.Nature Genet, 27: 117-120, 2001. 
  • Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.Brenner, M., Johnson, A.B., Boespfug-Tanguy, O., Rodriguez, D., Goldman, J.E. and Messing, A.Nature Genetics 27:117-120, 2001. 
  • Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.Brenner, M., Johnson, A., Boespflug-Tanguy, O., Rodriguez, D., Goldman, J. and Messing, A.Nature Genetics 27: 117-120, 2001. 
  • Gene expression analysis in mice with elevated glial fibrillary acidic protein and Rosenthal fibers reveals a stress response followed by glial activation and neuronal dysfunction.Hagemann, T., Gaeta, S., Smith, M., Johnson, D., Johnson, A. and Messing, A.Human Molecular Genetics, 14: 2443-2458, 2005. 
  • GFAP mutations in infantile, juvenile, and adult Alexander disease.Li, R., Johnson, A., Salomons, G., Goldman, J., Naidu, S., Quinlan, R., Cree, B., Ruyle, S., Banwell, B., D'Hooghe, M., Siebert, J., Rolf, C., Cox, H., Reddy, A., González, L., Collins, A., Weller, R., Messing, A., van der Knaap, M. and Brenner, M. 
  • Glial fibrillary acidic protein mutations in infantile, juvenile, and adultfForms of Alexander Disease.Li, R., Johnson, A., Salomons, G., Goldman, J., Naidu, S., Quinlan, R., Cree, B., Ruyle, S., Banwell, B., D'Hooghe, M., Siebert, J., Rolf, C., Cox, H., Reddy, A., Gutierrez-Solana, L., Collins, A., Weller, R., Messing, A., van der Knaap, M., BrenneAnn. Neurol. 57: 310-326, 2005. 
  • Propensity for paternal inheritance of de novo mutations in Alexander disease.Li, R., Johnson, A., Salomons, G., van der Knaap, M., Rodriguez, D., Boespflug-Tanguy, O., Gorospe, J., Goldman, J., Messing, A. and Brenner, M.Hum. Genet. 119:137-144, 2006. 
  • Antimicrobial peptide beta-defensin-1 expression is upregulated in Alzheimer's brain.Williams, W.M., Torres, S., Siedlak, S.L., Castellani, R.J., 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, 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, 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 familial amyotrophic lateral sclerosis.Gruzman, A., Wood, W., Alpert, E., Prasad, M., Miller, R., Rothstein, J., Bowser, R., Hamilton, R., Wood, T., Cleveland, D., Lingappa, W. and Liu, J.PNAS 104: 12524-12529, 2007. 
  • Decreased mRNA expression of tight juction proteins in lumbar 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 insights into disease pathogenesis.Dodge, J.C., Treleaven, C.M., Fidler, J.A., et al.PNAS 110:10812-10817, 2013. 
  • Glycosphinogolipids are modulators of disease pathogenesis in amyotrophic lateral scelrosis.Dodge, J.C., Treleaven, C.M., Pacheco, J. et al.PNAS 112:8100-8105, 2015. 
  • Alzheimer Disease
  • Potential role of PINK 1 for increased PGC-1a-mediated mitochondrial fatty acid oxidation and their associations with alzheimer disease and diabetesChoi, J., Ravipati, A., Nimmagadda, V., Schubert, M., Castellani, R.J. and Russell, J.W. 
  • Alzheimer's disease
  • Cerebral amyloid angiopathy: amyloid Beta accumulates in putative interstitial fuid drainage pathways in Alzheimer's Disease.Weller, R., Massey, A., Newman, T., Hutchings, M., Kuo, Y. and Roher, A.Amer. J. Pathology, 153: 725-733, 1998. 
  • Opposite roles of apolipoprotein E in normal brains and in Alzheimer's disease.Russo, C., Giovanna, A., Dapino, D., Piccini, A., Piombo, G., Teller, J., Zaccheo, D., Gambetti, P. and Tabaton, M.Medical Sciences 95:15598-15602, 1998. 
  • Amyloid-beta induces chemokine secretion and monocyte migration across a human blood-brain barrier model.Fiala, M. Zhang, L., Gan, X., Sherry, B., Taub, D., Graves, M., Hama, S., Way, D., Weinand, M., Witte, M., Lorton, D., Kuo, Y. and Roher, A.Molecular Medicine, 4: 480-489, 1998. 
  • Elevated low-density lipoprotein in Alzheimer's disease correlates with brain A beta 1-42 levels.Kuo, Y., Emmerling, M., Bisgaier, C., Essenberg, A., Lampert, H., Drumm, D. and Roher, A.Biochem. Biophys. Res. Comm. 252: 711-715, 1998. 
  • High levels of circulating Aß42 are sequestered by plasma proteins in Alzheimer's disease.Kuo, Y., Emmerling, M., Lampert, H., Hempelman, S., Kokjohn, T., Woods, A., Cotter, R. and Roher, A.Biochem. Biophys. Res. Comm. 257: 787-791, 1999. 
  • Loss of proteins regulating synaptic plasticity in normal aging of the human brain and in Alzheimer disease.Hatanpaa, K., Issacs, K.R., Shirao, T., Brady, D.R. and Rapoport, S.I.J. Neuropath. Exper. Neurol. 58:637-643, 1999. 
  • High aggregate burden of somatic mtDNA point mutations in aging 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 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 Alzheimer's disease.Shan, X., Tashiro, H., and Glenn Lin, C.J. Neuroscience 23: 4913-4921, 2003. 
  • An RNA-dependent protein kinase is involved in tunicamycin-induced apoptosis and Alzheimer's disease.Onuki, R., Bando, Y., Suyama, E., Katayama, T., Kawasaki, H., Baba, T., Tohyama, M. and Taira, K.EMBO 23: 959-966, 2004. 
  • Accumulation of high-molecular-weight amylose in Alzheimer's disease brain.Huang, L., Hollingsworth, R.I., Castellani, R., and Zipser, B.Glycobiology, 14(5): 409-416, 2004. 
  • Accumulation of high molecular weight amylose in Alzheimer's disease brains.Huang, L., Hollingsworth, R., Castellani, R. and Zipser, BGlycobiology 14: 409-416, 2004. 
  • Differences in chitin-like polymers isolated from normal aged and Alzheimer's disease brains.Huang, L., Hollingsworth, R., Castellani, R. and Zipser, BSubmitted, 2005. 
  • Beta-Secretase activity increases with aging in human, monkey and mouse brain.Fukumoto, H., Rosene, D., Moss, M., Raju, S., Hyman, B. and Irizarry, M.Amer. J. Pathology 164: 719-725, 2004. 
  • Increased hippocampal neurogenesis in Alzheimer's disease.Jin, K., Peel, A., Mao, X, Xie, L, Cottrell, B., Henshall, D. and Greenberg, D.PNAS 101: 343-347, 2004. 
  • Intraneuronal Ab immunoreactivity is not a predictor of brain amyloidosis-b or neurofibrillary degeneration.Wegiel, Kuchna, Nowicki, Frackowiak, Mazur-Kolecka, Imaki, Wegiel, Mehta, Silverman, Reisberg, DeLeon, Wisniewski, Pirttilla, Frey, Lehtimaki, Kivmakj, Visser, Kamphorst, 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., Bhattacharjee, M and LeBlanc, A.Amer. J. Pathology 170:1200-1209, 2007. 
  • Increased cortical expression of two synaptogenic thrombospondins 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 proteins in neurofibrillary tangles (NFTs): phosphorproteomics of 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. 
  • Lysosomal Dysfunction in a Mouse Model of SAndhoff Disease Leads to Accumulation of Ganglioside-Bound Amyloid-B Peptide.Keilani et alJ of Neuroscience 32: 5223-5236, 2012 
  • BACE2 Expression Increases in Human Neurodegenerative Disease.Holler et alAm J of Pathology 180: 337-349, 2012 
  • Antimicrobial peptide B-defensin-1 expression is upregulated in Alzheimer's brain.Williams, W., Torres, S., Seidlak, S., Castellani, R., Perry, G., Smith, M. and Zhu, X.J of Neuroinflammation 10:127, 2013. 
  • Antimicrobial peptide beta-defensin-1 expression is upregulated in Alzheimer's brain.Williams, W.M., Torres, S., Siedlak, S.L., Castellani, R.J., Pery, G., Smith, M.A. and Zhu, X.J or Neuroinflamation 10:127, 013. 
  • The Neuroendocrine Protein 7B2 Suppreses the Aggregation of Neurodegenerative Disease-related Proteins.Helwig et alJ of Biological Chemistry 288: 1114-1124, 2013. 
  • Potential role of PINK 1 for increased PGC-1a-mediated mitochondrial fatty acid oxidation and their associations with alzheimer disease and diabetesChoi, K., Ravipati, A., Nimmagadda, V., Schubert, M., Castellani, R.J. and Russell, J.W. 
  • The cis-regulatory effect of an Alzheimer's disease-associated poly-T locus on expression of TOMM40 and apolipoprotein E genes.Linnertz, C., Anderson, L., Gottschalk, W., et al.Alzheimer's & Dementia, 2014 
  • Alzheimer's Disease / Down Syndrome
  • Identification of amino-terminally and phosphotyrosine modified carboxy-terminal fragments of the amyloid precursor protein in Alzheimer's Disease and Down's Syndrome brains.Russo, C., Salis, S., Dolcini, V., Song, X., Teller, J., Gambetti, P. and Schettini, G.Neurobiol. Disease 8: 173-188, 2001. 
  • A fibril-specific, conformation-dependent antibody recognizes a subset of AB plaques in Alzheimer disease, Down syndrome and Tg2576 transgenic mouse brain.Sarsoza, F., Saing, T., Kayed, R., Dahlin, R., Dick, M., Broadwater, C., Mobley, S., Lott, I., Doran, E., Gillen, D., Anderson, C., Cribbs, D., Glabe, C. and Head, E.Acta Neuropathol. 118:505-517, 2009. 
  • The role of DYRK1A in neurodegenerative diseases.Wegiel, J., Gong, C. and Hwang, Y.FEBS Journal 278: 236-245, 2011. 
  • Association between frontal cortex oxidative damage and beta-amyloid as a function of age in Down syndrome.Cenini, G., Dowling, A., Beckett, T., Barone, E., Mancuso, C., Murphy, M., LeVine, H., Lott, I., Schmitt, F., Butterfield, D. and Head, E.Biochimica et Biophysica Acta 1822: 130-138, 2012. 
  • Evidence that PICALM affects age at onset of Alzheimer's dementia in Down Syndrome.Jones et alNeurobiology of Aging, 2013 
  • Impairment of proteostasis network in Down syndrome prior to the development of Alzheimer's disease neuropathology: Redox proteomics analysis of human brain.Domenico, F., Coccia, R., Cocciolo, A., Murphy, M., Cenini, G., Head, E., Butterfield, D., Giorgi, A., Schinina, M., Mancuso, C., Cini, C. and Perluigi, M.Biochimica et Biophsica Acta, 2013 
  • Angelman Syndrome
  • The Angelman syndrome candidate gene, UBE3A/E6-AP, in imprinted 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 with diffue central system hypomyelination syndrome.Wong, K., Armstrong, R.C., Gyure, K.A., Morrison, A.L., Rodriguez, D., Matalon, R., Johnson, A.B., Wollmann, R., Gilbert, 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 proteins in the nucleus of Bergmann glia, Purkinje neurons, and other large neurons of the human brain: implications for the pathogenesis of ataxia-telangiectasia-like disorder.Calkins, S., Ahn, J., Marietta, C. and Brooks, P.J.Submitted, 2005 
  • ATM, the Mre11/RAd50/nBS1 complex, and topoisomerase I are concentrated in the nucleus of purkinje neurons in the juvenile human brain.Gorodetsky, E., Calkins, S., Ahn, J and Brooks, PJ.DNA Repair 6:1698-1707, 2007. 
  • Ataxia-telangiectasia mutated kinase regulates ribonucleotide reductase and mitochondrial homeostasis.Eaton, J., Lin, P., Sartorelli, A, Bonawitz, N. and Shadel, G.S.J of Clincal Investigation 117: 2723-2734, 2007. 
  • Progressive loss of genome integrity and aneuploidy in the ataxia telangiectasia brain through aging: the cerebrum versus cerebellum.Iourov, I., Vorsanova, S., Liehr, T., Kolotii, A., Bereshevea, A., Demidova, I., Kravelts, V., Kurinnaya, O., Monakhov, V. and Yurov, Y.PNAS, (first choice, in prep) 
  • Aneuploidy in the brain significantly contributes to ataxia-telangiectasia and Alzheimer's disease, but less to intercellular diversity of the normal human brain.Iourov, I., Vorsanova, S., Liehr, T. and Yurov, Y.Neurobiol. Dis. 34(2):212-220, 2009. 
  • Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain.Iourov, I., Vorsanova, S., Liehr, T., Kolotii nd Yurov, Y.B.Human Molecular Genetics 18: 2656-2669, 2009. 
  • Differential expression of small heat shock protein 27 (Hsp27) in ataxia telangiectasia brains.Chen, W., Kuizon, S., Chiou, B., Bolton, D., Pullarkat, R. and Junaid, M.Neurochem. Res 34: 1658-1667, 2009. 
  • Stable brain ATMmessage and residual kinase-active ATM protein in 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 Degradation through Suppression of the ISG15 Conjugation PathwayWood, L., Sanker, S., Reed, R., Haas, A., Liu, L., McKinnon, P. and Desai, S.PLoS ONE 6(1): e16422. 
  • Nuclear accumulation of HDAC4 in ATM deficiency mediates neurodegeneration in ataxia-telangectasiaLi, J., Chen, J., Ricupero, C., Hart, R., Schwartz, M., Kusnecov, A. and Herrup, K.Nature Medicine 18:783-791, 2012. 
  • NADPH oxidase 4 is a critical mediator in ataxia telangiectasis diseaseWeyemi, U., Redon, C.E., Aziz, T., Choudhuri, R., Maeda, D., 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 ataxia-telangiectasia brain: differential expression and 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 Normal Density of Neurons and Interneurons in the Posterior Cingulate Cortex and Fusiform Gyrus in Autism.Oblack, A.L., Rosene, D.L., Kemer, T.L., Bauman, M.L. amd Blatt, G.J.Autism Res. 4:200-211, 2011. 
  • Postmortem brain abnormalities of the glutamate neurotransmitter system in autism.Purcell, A.E., Jeon, O.H., Zimmerman, A.W., Blue, M.E., and Pevsner, J.Neurology 57: 1618-1628, 2001. 
  • Postmortem brain abnormalities of the glutamate neurotransmitter system in autism.Purcell, A.E., Jeon, O.H., Zimmerman, A.W., Blue, M.E. and Pevsner, J.Neurology 57:1618-1628, 2001. 
  • Dysregulation of reelin and Bcl-2 proteins in autistic cerebellum.Fameti, S.H.., Stary, J.M., Halt, A.R. and Realmuto, G.R.J. Autism Devel. Disorders 31: 529-535, 2001. 
  • Density and distribution of hippocampal neurotransmitter receptors in autism: an autoradiographic study.Blatt, G.J., Fitzgeral, C.M., Guptill, J.T., Booker, A.N., Kemper, T.L. and Bauman, M.L.J. Autism Develop. Disorders 31:537-543, 2001. 
  • Density and distribution of hippocampal neurotransmitter receptors in autism: an autoradiographic study.Blatt, G.J., Fitzgerald, C.M., Guptill, J.T., Booker, A.B., Kemper, T.L., Bauman, M.L.J. Autism Dev. Disorder. 31(6): 537-43, 2001 Dec. 
  • Cholinergic activity in autism: abnormalities in the cerebral cortex and basal forebrain.Perry, E.K., Lee, M.L.W., Martin-Ruiz, C.M., Court, J.A., Volsen, S.G., Merrit, J., Folly, E., Iversen, P.E., Bauman, M.L., Perry, R.H., Wenk, G.L.Am. J. Psychiatry 158:1058-1066, 2001. 
  • Cholinergic activity in autism: abnormalities in the cerebral cortex and basal forebrain.Perry, E.K., Lee, M.L.W., Martin-Ruiz, C.M., Court, J.A., Volsen, S.G., Merrit, J., Folly, E., Iversen, P.E., Bauman, M.L., Perry, R.H., Wenk, G.L.Am. J. Psychiatry 158:1058-1066, 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. 
  • Functional genomics approaches to a primate model of autistic symptomology.Hemby, S.E., Sanchez, M.M. and Winslow, J.T.J. Autism & Devel. Disord. 31:551-555, 2001. 
  • Assessment of neural cell adhesion molecule (NCAM) in autistic serum and postmortem brain.Purcell, A.E., Rocco, M.M., Lenhart, J.A., Hyder, K., Zimmerman, A.W., and Pevsner, J.Journal of Autism and Developmental Disorder 31, No 2:183-194, 2001. 
  • The human aminophospholipid-transporting ATPase gene ATP10C maps 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. 
  • Altered levels of Bc12 and p53 proteins in parietal cortex reflect deranged apoptotic regulation in autism.Fatemi, S.H. and Halt, A.Synapse 43: 281-284, 2001. 
  • Reduction in anti-apoptotic protein Bcl-2 in autistic cerebellum.Fatemi, S.H., Halt, A., Stary, J., Realmuto, G. and Jalali-Mousavi, M.Molecular Neuroscience 12: 929-933, 2001. 
  • Purkinje cell size is reduced in cerebellum of patients with autism.Fatemi, S.H., Halt, A., Realmuto, G., Earle, J., Kist, D., Thuras, P. and Merz, A.Cell. Mol. Neurobiol. 22: 171-175, 2002. 
  • Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplications.Herzing, L., Cook, E. and Ledbetter, D.Human Molecular Genetics, 11(15): 1707-1718, 2002. 
  • Glutamic acid decarboxylase 65 and 67 kDa proteins are reduced in autistic parietal and cerebellar cortices.Fatemi, S.H., Halt, A.R., Stary, J.M., Kanodia, R., Schulz, S.C. and Realmuto, G.R.Biol. Psychiatry 52:805-810, 2002. 
  • Levels of Bcl-2 and P53 are altered in superior frontal and 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. 
  • A mixed epigenetic/genetic model for oligogenic Inheritance of autism with a limited role for UBE3A.Jiang, Y., Sahoo, T., Michaelis, R., Bercovich, D., Bressler, J., Kashork, C., Liu, Q., Shaffer, L., Schroer, R., Stockton, D., Spielman, R., Stevenson, R. and Beaudet, A.Amer. J. Medical Genetics 131A: 1-10, 2004. 
  • Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders.Samaco, R., Nagarajan, R., Braunschweig, D. and LaSalle, J.Human Molecular Genetics 13: 629-639, 2004. 
  • Neuroglial activation and neuroinflammation in the brain of patients with autism.Vargas, D., Mascimbene, C., Krishnan, C., Zimmerman, A. and Pardo, C.Ann. Neurol. 57: 67-81, 2005. 
  • Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factor.Junaid, M., Kowal, D., Barua, M., Pullarkat, P., Brooks, S. and Pullarkat, R.Amer. J. Medical Genetics 131A: 11-17, 2004. 
  • Reduced minicolumns in the frontal cortex of patients with autism.Buxhoeveden, D., Semendeferi, K., Buckwalter, J., Schenker, N., Switzer, R. and Courchesne, E.Neuropathology & Applied Neeurobiology 32: 483-491, 2006. 
  • Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3QA and GABRB3.Samaco, R., Hogart, A. and LaSalle, J.Human Molecular Genectics 14: 483-492, 2005. 
  • Serum autoantibodies do not differentiate PANDAS and Tourette 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, T., Lee, S., Brooks, A. and Pearce, D.Biol. Psychiatry 57: 777-787, 2005. 
  • Stereological estimation of the number of neurons in the human 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, 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. 
  • When is the brain enlarged in autism? A meta-analysis of all brain size reports.Redcay, E., and Courchesne, E. 
  • 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. 
  • Stereological analysis of amygdala neuron number in autism.Schumann, C. and Amaral, D.J. Neurscience, 26: 7674-7679, 2006. 
  • Minicolumnar abnormalities in autism.Casanova, M., Kooten, I., Switala, A., Engeland, H., Heinsen, H., Steinbusch, H., Hof, P., Trippe, J., Stone, J. and Schmitz, C.Acta Neuropathol. 112:287-303, 2006. 
  • Decreased GAD67 mRNA levels in cerebellar Purkinje cells in autism: pathophysiological implications.Yip, J., Soghomonian, J. and Blatt, G.Acta Neuropathol. 113:559-568, 2007. 
  • Antibrain antibodies in children with autism and their unaffected siblings.Singer, H., Morris, C., Williams, P., Yoon, D., Hong, J. and Zimmerman, A.J. Neuroimmuology 178: 149-155, 2006. 
  • [3H]-Flunitrazepam-labeled benzodiazepine binding sites in the hippocampal formation in autism: a multiple concentration autoradiographic study.Guptill, J., Booker, A., Gibbs, T., Kemper, T., Bauman, M. and Blatt, G.J. Autism Dev. Disord. 37:911-920, 2007. 
  • Lack of evidence of neuropathology in the locus coeruleus in autism.Martchek, M., Thevarkunnel, S., Bauman, M., Blatt, G. and Kemper, T.Acta Neuropathol. 111:497-499, 2006. 
  • Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism.Talebizadeh, Z., Lam, D., Theodoro, M., Bittel, D., Lushington, G. and Butler, M.J. Medical Genetics 2006; 43e21. 
  • Antibrain antibodies in children with autsim and their unaffected siblings.Singer, H., Morris, C., Williams, P., Yoon, D., Hong, J. and Zimmerman, A.J. Neuroimmunology 178: 149-155, 2006. 
  • No reduction of spindle neuron number in frontoinsular cortex in autism.Kennedy, D., Semendeferi, K. and Courchesne, E.Brain & Cognition, 64:124-129, 2007. 
  • Disruption of cerebral cortex MET signaling in autism spectrum disorder.Campbell, D., D'Oronzio, R., Garbett, K., Ebert, P., Mirnics, K., Levitt, P and Persico, A.Ann. Neurol. 62:243-250, 2007. 
  • Maternal antibrain antibodies in autism.Zimmerman, A., Connors, S., Matteson, K., Lee, L., Singer, H., Castaneda, J. and Pearce, D.Brain, Behavior and Immunity 21: 351-357, 2006. 
  • Antibodies against fetal brain in sera of mothers with autistic children.Singer, H., Morris, C., Gause, C., Gillin, P., Crawford, S. and Zimmerman, A.J. Neuroimmunol. 194: 165-172, 2008. 
  • Antibodies against fetal brain in sera of mothers with autistic children.Singer, H.S., Morris, C.M , Gause, C.D., Gillin, P.K, Crawford, S. and Zimmerman, A.W.J Neuroimmunol 194: 165-172, 2008. 
  • Expression of phosphodiesterase 4 is altered in the brains of 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 terbutaline treatment in rats: implications for autism.Zerrate, M., Pletnikov, M., Connors, S., Vargas, D., Seidler, F., Zimmerman, A., Slotkin, T. and Pardo, C.J. Pharm. Exper. Ther. 322: 16-22, 2007. 
  • 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 autism.Nagarajan, R., Patzel, K., Martin, M., Yasui, D., Swanberg, S., Hertz-Picciotto, I., Hansen, R., Van de Water, J., Pessah, I., Jiang, Ruby, Robinson, W. and LaSalle, J.Austism Res. 1(3):169-178, 2008. 
  • Oxidative stress in autism: elevated cerebellar 3-nitrotyrosine levels.Sajdel-Sulkowska, E., Lipinski, B., Windom, H., Audhya, T and McGinnis, W.Amer. J. Biochem. Biotech. 4:73-84, 2008. 
  • Kinkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibilty gene.Alarcon, M., Abrahams, B., Stone, J., Duvall, J., Perederly, J., Bomar, J., Sebat, J., Wigler M., Martine, C., Ledbetter, D., Nelson, S., Cantor, R. and Geschwind, D.Am. J. Human Genetics 82:150-159, 2008. 
  • Expression of astrocytic markers aquaporin 4 and connexin 43 is altered in brains of subjects with autism.Fatemi, S.H., Folsom T., Reutiman, T. and Lee, S.Synapse 62: 501-507, 2008. 
  • Linkage, association and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.Alarcon, M., Abrahams, B.S., Sone, J.L., Duvall, J.A., Perederly, J.V., Bomar, J.M., Sebat, J., Wigler, M., Martin, C.L., Ledbetter, D.H., Nelson, S.F., Cantor, R.M., and Geschwind, D.H.Am. J. Hum. Genet. 82(1) 150-159, 2008. 
  • Microtransplantation of neurotransmitter receptors from postmortem autistic brains to Xenopus oocytes.Limon, A., Reyes-Ruiz, J. and Miledi, R.PNAS 105: 10973-10977, 2008. 
  • The role of neurodevelopmental genes in infections etiology of autism.Fatemi, S.H.Am. J. Biochem. and Biotech. 4: 177-182, 2008. 
  • The neuropathology of autism: where do we stand?Schmitz, C. and Rezaie, P.Neuropathology and Applied Neurobiology 34: 4-11, 2008 
  • The autistic phenotype exhibits a remarkably localized modification of brain protein by products of free radical-induced lipid oxidation.Evans, T., Siedlak, S., Lu, L., Fu., X., Want, Z., McGinnis, W., Fakhoury, E., Castellani, R., Hazen, S., Walsh, W., Lewis, A., Salomon, R., Smith, M., Perry, G. and Zhu, X.Amer. J. Biotech. Biochem. 4: 61-72, 2008. 
  • Neurons in the fusiform gyrus are fewer and smaller in autism.Kooten, I., Palmen, S., Cappeln, P., Steinbusch, H., Korr, H., Heinsen, H., Hof, P., Engeland H. and Schmitz, C.Brain 131:987-999, 2008. 
  • Heterogeneous dysregulation of microRNAs across the autism spectrum.Abu-Elneel, K., Gazzaniga, F.S., Nishimura, Y., Wall, D.P., Geschwind, D.H., Lao, K. and Kosik, K.S.Neurogenetics 9(3) 153-161, 2008. 
  • SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects.Lepagnol-Bestel, A., Maussion, G., Boda, B., Carona, A., Iwayama, Y., Delezoide, A., Moalic, J., Muller, D., Dean, B., Yashikawa, T., Gorwood, P., Buxbaum, J., Ramoz, N. and Simonneau, M.Molecular Psychiatry 13: 385-397, 2008. 
  • Evidence for oxidative damage in the autistic brain.Evans, T., Perry, G., Smith, M., Salomon, R., McGinnis, W., Sajdel-Sulkowska, and Zhu, X."Autism: Oxidative Stress, Inflamation, and Immune Abnormalities" (Chapt 2) 
  • Childhood serum anti-fetal brain antibodies do not predict autism.Morris, C.M., Zimmerman, A. and Singer, H.S.Pediatric Neurology 41: 288-290, 2009 
  • Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size.Leung, K., Vallero, R., DuBose, A., Resnick, J. and LaSalle, JHuman Molecular Genetics 18: 4227-4238, 2009. 
  • Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients" - letter.Eran, A., Graham, K.R., Vatalaro, K., McCarthy,J.,Collins, C., Peters, H., Brewster, S.J., Hanson, E., Hundley, R., Rapporport, L., Holm, I.A., Kohane, I.S. and Kunkel, L.M.J. Clin. Invest. 119(4) 679-680, 2009. 
  • Comment on "Austistic-like phenotypes in CADPS2-knockout mice and aberrant CADPS2 splicing in autistic patients.Eran, A., Graham, K., Vatalaro, K., McCarthy, J., Collins, C., Peters, H., Brewster, S., Hanson, E., Hundley, R., Rappaport, L., Holm, I., Kohane, I. and Kunkel, L.J. Clin. Invest 119: 680-681, 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. 
  • Increase in cerebellar neurotrophin-3 and oxidative stress markers in autism.Sajdel-Sulkowska, E., Xu, M. and Koibuchi, N.Cerebellum 8:366-372, 2009. 
  • Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression.Lintas, C.,Sacco, R., Garbett, K., Mirnics, K., Militerni, R., Bravaccio, C., Curatoli, P., Manzi, B., Schneider, C., Melmed, R., Elia, M., Pascucci, T., Puglisi-Allegra, S., Reichelt, K.-L. and Persico, A.M.Mol. Psychiatry14:705-718, 2009. 
  • Common genetic variants on 5p14.1 associate with autism spectrum disorders.Wang, K., Zhang, H., Ma, B., et alNature 459: 528-533, 2009. 
  • Expression of GABAa receptors is altered in brains of subjects with autism.Fatemi, S.H., Folsom, T., Reutiman, T. and Thuras, P.Cerebellum 8: 65-69, 2009. 
  • Elevated immune response in the brain of autistic patients.Li, X., Chauhan, A., Sheikh, A., Patil, S., Chauhan, V., Li, X., Ji, L., Brown, T. and Malik, M.J of Neuroimmunology 207: 111-116, 2009. 
  • Childhood serum anti-fetal brain antibodies do not predict autism.Morris, C.M., Zimmerman, A.W., Singer, H.S.Pediatric Neurology 41: 288-290, 2009. 
  • Genomic and epigenetic evidence for oxytocin receptor defiencey in autism.Gregory, S.G., Connelly, J.J.,Towers, A.J., Johnson, J., Biscoho, D.,Markunas, C.A.,Lintas, C., Abramson, R.K., Wright, H.H.,Ellis, P., Lanford, C.F., Worley, G., Delong, G.R., Murphy, S.K., Curraro, M.L., Persico,A. and Pericak-Vance, M.A.BMC Medicine 7:62, 2009. 
  • Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1.Palmieri, L., Papaleo, V., Porcelli, V., Scarcia, P., Gaita, L., Sacco, R., Hager, J., Rousseau, F., Curatolo, P., Manzi, B., Militerni, R., Bravaccio.C., Trillo, S., Schenieder,C., Melmed, R., Elia, M., Lenti, C., Saccani, M., et al. and Persico,Mol. Psychiatry 15:38-52, 2010. 
  • Microglial activation and increased microglial density observed in the dorsolateral prefrontal cortex in autism.Morgan, J.T., Chana, G., Pardo,A.A., Achim, C., Semendeferi, K., Buckwalter,J., Courchesne, E., and Everall, I.P.Biol. Psychiatry 68:368-376, 2010. 
  • Microglial activation and increased microglial density observed in the dorsolateral prefrontal cortex in autism.Morgan, J.T., Chana, G., Pardo, C.A., Achim, C., Semendeferi, K., Buckwalter, J., Courchesne, E., and E. I.P.Biol. Psychiatry 68:368-376, 2010. 
  • BDNF-Akt-Bcl2 antiapoptotic signaling pathway is compromised in the brain of autistic subjects.Sheikh, A.M., Malik, M., Wen, G., Chauhan, A., Chauhan, V., Gong, C.-X., Liu, F., Brown, W.T. and Li, X.J. Neurosci. Res. 88:2641-2647, 2010. 
  • Mitochondrial dysfunction in autism spectrum disorder: cause or effect?Palmieri, L. and Persico, A.M.Biochem. Biophys. Acta 1797:1130-1137, 2010. 
  • Gene expression signatures in blood distinguish autism spectrum disorder and mirror brain expression profiles.Kong, S.W., Collings, C.D., Holm, I., Brewster, S.J., Hanson, E., Harris, H.K., Lower, K.R., Saada, A., Mora, A., Madison, K., Hundley, R., McCarthy, J., Egan, J., Galdzicki, M., Rappaport, 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 brain of autistic subjects.Sheikh, A, Li,X., Wen, G., Tauqeer, Z., Brown, W. and Malik M.Neuroscience 165:363-370, 2010. 
  • RPP25 is developmentally regulated in prefrontal cortex and expressed at decreased levels in autism spectrum disorder.Huang, H.S., Cheung, I., and Akbarian, S.Autism Res. 3:1-9, 2010. 
  • The neuropathology of autism: defects of neurogenesis, neuronal migration and dysplastic changes.Wegiel, J., Kuchna, I., Nowicki, K., Imaki, H., Wegiel, J., Marchi, E., Ma, S.Y., Chauhan, A., Chauhan, V., Bobrowicz, T.W., de Leon, M., Saint Louis , Ira, L.A., Cohen, L., London, E., Brown, W.T. and Wisniewski, T.Acta Neuropathologica (2010) 119:755-770. 
  • Type, topography and sequelae of neuropathological changes shaping clinical phenotype in autism. Chapter1 in: "Oxidative Stress, Inflammation, and Immune Abnormalities".Wegiel J, Wisniewski T, Chauhan A, Chauhan V, Kuchna I, Nowicki K, Imaki H, Wegiel J, Ma SY, Wierzba Bobrowski T, Cohen IL, London E, Brown WT. Eds.Abha Chauhan, Ved Chauhan and W. Ted 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 receptors are altered in brains from subjects with autism.Fatemi, S.H., Reutiman, T., Folsom, T., Rooney, R., Patel, D., Thuras, P.J Autism Dev Disord 40:743-750, 2010. 
  • Decreased GABA(B) receptors in the cingulate cortex and fusiform gyrus in autism.Oblak, A.L., Gibbs, T.T., Blatt, G.J.J. Neurochem. 114:1414-1423, 2010. 
  • Association of autism with polomavirus infection in postmortem 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" 
  • Alterations in GABAergic Biomarkers in the Autism Brain: Research Findings and Clinical ImplicationsBlatt, G. and Fatemi, H.The Anatomical Record 294:1646-1652, 2011. 
  • Dystrophic Serotonin Axons in Postmortem Brains from Young Autism Patients.Azmitia, E., Singh, J., Hou, X. and Wegiel, J.The Anatomical Record 294:1653-1662, 2011. 
  • Brain region-specific deficit in mitochondrial electron transport chain complexes in children with autism.Chauhan, A., Gu, F., Essa, M.M., Wegiel, J., Kaur, K., Brown, W.T. and Chauhan, V.J. Neurochem. 117(2): 209-220, 2011. 
  • Large-scale methylation domains mark a functional subset of neuronally expressed genes.Schroeder, D., Lott, P., Korf, I. and LaSalle, J.Genome Res. 21: 1583-1591, 2011. 
  • Brain Region-Specific Decrease in the Activity and Expression of Protein Kinase A in the Frontal Cortex of Regressive Autism.Ji, L., Chauhan, V., Flory, M., Chauhan, A.PLoS ONE 6: e23751, 2011 
  • Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples.Scoles, H., Urraca, N., Chadwick, S., Reiter, L. and LaSalle, J.Molecular Autism 2: 19, 2011 
  • Brain region-specific deficit in mitochondrial electron transport chain complexes in children with autism.Chauhan, A., Gu, F., Essa, M. et alJ Neurochem 117: 209-220, 2011 
  • Upregulation of Ras/Raf/ERK1/2 signaling and ERK5 in the brain of autistic subjects.Yang, K., Sheikh, A., Malik, M., Wen, G., Zou, H., Brown, T. and Li., X.Genes, Brain and Behavior 
  • Brain region-specific deficit in mitochondrial electron transport chain complexes in children with autismChauhan, A., Gu, F., Essa, M.M., Wegiel, J., Kaur, K., Brown, W.T. and Chauhan, V.J. Neurochem. 117(2): 209-220, 2011. doi:10.1111/j.1471-4159.2011. 
  • Altered Posterior Cingulate Cortical Cytoarchitecture, but Normal Density of Neurons and Interneurons in the Posterior Cingulate Cortex and Fusiform Gyrus in Autism.Oblack, A.L., Rosene, D.L., Kemer, T.L., Bauman, M.L. amd Blatt, G.J.Autism Res. 4:200-211, 2011. 
  • Increased serotonin axons (immunoreactive to 5-HT transporter) in postmortem brains from young autism donors.Azmitia, E.C., Singh, J.S., Whitaker-Azmitia, P.Neuropharmacology 60:1347-1354, 2011. 
  • Dysregulation of fragile X mental retardation protein and metabotropic glutamate receptor 5 in superior frontal cortex of indiviudals with autims: a postmortem brain study.Fatemi, S.H. and Folsom, T.D.Molec. Autism 2:6-11, 2011. 
  • Dystrophic Serotonin Axons in Postmortem Brains from Young Autism Patients.Azmitia, E., Singh, J., Hou, X. and Wegiel, J.The Anatomical Record 294: 1653-1662, 2011. 
  • Regulation of Met by FOXP2, Genes Implicated in Highter Cognitive Dysfunction and Autism Risk.Mukamel, Z., Konopka, G., Wexler, E., Osborn, G., Dong, H., Bergman, M., Levitt, P. and Geschwind, D.Journal of Neuroscience 31(32): 11437-11442, 2011 
  • Autism associated aberrant MET and FOXP2 expression inhibits cortical neuron maturationTomlinson R., West, A.Journal of Clinical Investigation 
  • Levels of Select PCB and PBDE Congeners in Human Postmortem Brain Reveal Possible Environmental Involvement in 15q11-q13 Duplication Autism Spectrum Disorder.Mitchell, M., Woods, R., Chi, L., Schmidt, R., Pessah, I., Kostyniak, P., LaSalle, J.Environmental and Molecular Mutagenesis 53: 589-598, 2012. 
  • Consensus Paper: Pathological Role of the Cerebellum in Autism.Fatemi, S., Aldinger, K., Ashwood, P. et alCerebellum 11: 777-807, 2012. 
  • Reduced Activity of Protein Kinase C in the Frontal Cortex of Subjects with Regressive Autism: Relationship with Developmental Abnormalities.Ji, L., Chauhan, A. and Chauhan, V.Int J Biol Sci 8: 1075-1084, 2012. 
  • Abnormal Intracellular Accumulation and Extracellular AB Deposition in Idiopathic and Dup15q11.2-q13 Autism Spectrum Disorders.Wegiel, J., Fackoweak, J., Mazur-Kolecka, B., et alPLoS ONE 7:e35414 
  • Differences Between the Pattern of Developmental Abnormalities in Autism Associated with Duplications 15q11.2-q13 and Idiopathic Autism.Wegiel, J., Schanen, C., Cook, E. et al.J Neuropath Exp Neurol 71: 382-397, 2012 
  • Brain Transcriptional and Epigenetic Association with Autism.Ginsberg, M., Rubin, R., Falcone, T. et alPLoS ONE 7: e44736, 2012. 
  • Altered Balance of Proteolytic Isoforms of Pro-Brain-Derived Neurotrophic Factor in Autism.Garcia, K., Yu, G., Nicolini, C., et alJ Neuropathol Exp Neurol 71: 289-297, 2012 
  • The Neuropathology of Autism - Review ArticleBlatt, G.Scientifica Vol. 2012, Article 703675 
  • Brain Region-Specific Glutathione Redox Imbalance in Autism.Chauhan, A., Audhya, T. and Chauhan, V.Neurochem Res 37: 1681-1689, 2012. 
  • Microglia in the Cerebral Cortex in Autism.Tetreault, Hakeen, A., Jian, S., Williams, B., Allman, E., Wold, B., Allman, J.J Autism Deve Disord, doi: 10.1007/s10803-012-1513-0 
  • Aberrant Expression of Long Noncoding RNAs in Autistic BrainZiats, M. and Rennert, O.J Mol Neurosci 49: 589-593, 2013. 
  • 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. 
  • Consensus Paper: Pathological Role of the Cerebellum in Autism.Fatemi, H., Aldinger, K., Ashwoodk,P., Bauman, M., Blaha, C., Blatt, G., Chauhan, A., Chauhan, V. et al.Cerebellum 11(3):777-807, 2012. 
  • Evidence of oxidative damage and inflammation associated with low glutathione redox status in the autism brain.Rose, S., Melnyk, S., Pavliv, O., Bai, S., Nick, T., Frye, R. and James, S.Transl Psychiatry (2012) 2, e134 
  • Modeling the functional genomics of autism using human neurons.Konopka, G., Wexler, E., Rosen, E., Mukamel, Z., Osborn, G., Chen, L., Lu, D., Gao, F., Gao, K., Lowe, J. and Geschwind, D.Molecular Psyciatry 17:202-214, 2012. 
  • Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders.Zhu, L., Wang, X., Li., X., Towers, A., Cao, X., Wang, P., Bowman, R., Yang, H., Goldstein, J., Li, Y and Jiang, Y.Human Molecular Genetics 23: 1563-1578, 2014. 
  • Expression of Non-Protein-Coding Antisense RNAs in Genomic REgions Linked to Autism Spectrum Disorders.Velmeshev, D., Magistri, M., and Faghihi, M.A.IMolecuular Autism 2013, 4:32. 
  • Sex-biased gene expression in the developing brain: implications for autism spectrum disorders.Ziats, M.N. and Rennert, O.M.Molecular Autism 4: 10, 2013. 
  • The involvement of reelin in neurodevelopmental disorders.Folsom, T.D. and Fatemi, S.H.Neuropharmacology 68:122-135, 2013. 
  • Alterations in mitochondrial DNA copy number and the activities of electron transport chain complexes and pyruvate dehydrogenase in the frontal cortex from subjects with autism.Gu, F., Chauhan, V., Kaur, K., Brown, W.T., LaFauci, G., Wegiel, J. and ChauhanTransl. Psychiatry 3:e299, 2013. 
  • Patterning of Regional Gene Expression in Autism: New ComplexityGinsberg, M., Rubin, R., and Natowicz, M.Scientific Reports 3: 1831, 2013. 
  • Contribution of olivofloccular circuitry developmental defects to atypical gaze in autism.Wegiel, J., Kuchna, I., Noweicki, K. et alBrain Research 1512: 106-122, 2013 
  • Complex epigenetic regulation of Engrailed-2 (EN-2) homeiobox gene in the autism cerebellum.James, S.J., Shpyleva, S., Melnyk, S., Pavliv, O. and Pogribny, I.P.Trans. Psychiatry (2013), e232. 
  • GFAP expression and social deficits in transgenic Mice overexpressing human sAPPalpha.Bailey, A.R., Hou, H., Song, M., Obregon, D.F., Portis, S., Barger, S., Shytle, D., Stock, S., Mori, T., Sanberg, P.G., Murphy, T. and Tan, J.Glia 61:1556-1569, 2013. 
  • Alterations in mitochondrial DNA copy number and the activities of electron transport chain complexes and pyruvate dehydrogenase in the frontal cortex from subjects with autism.Gu, F., Chauhan, V., Kaur, K., Brown, W.T., LaFauci, G., Wegiel, J. and ChauhanTransl. Psychiatry 3:e299, 2013. 
  • Impaired synthesis and antioxidant defense of glutathione in the cerebellum of autistic subjects: Alterations in the activitites and protein expression of glutathione-related enzymes.Gu, F., Chauhan, V. and Chauhan, A.Free Radical Biol and Medicine 65:488-496, 2013. 
  • Clinicopathological Stratification of Idiopathic Autism and Sutism with 15q11.2-q13 Duplications.Wegiel, J., Schanen, C., Cook, E., et alThe Ns of Autism Spectrum Disorders, Cpt 3.9 
  • Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.Willsey, A.J. et al.Cell 155:997-1007, 2013. 
  • Age-Dependent Decrease and Alternative Splicing of Methionine Synthase mRNA in Human Cerebral Cortex and an Accelerated Decrease in Autism.Muratore, C., Hodgson, N., Trivedi, M., Abdolmaleky, H., Persico, A., Lintas, C., De La Monte, S. and Deth, R.PLoS ONE 8: e56927, 2013 
  • Heparan sulfate deficiency in autistic prostmortem brain tissue from the subventricular zone of the lateral ventricles.Pearson et alBehavioural Brain Research 243: 138-145, 2013. 
  • Comparative RNA editing in autistic and neurotypical cerebella.Eran, A., Li, J., Vatalaro, K., McCarthy, J., Rahimov, F., Collins, C., Markianos, K., Marguiles, D., Brown, E., Calvo, S., Kohane, I. and Kunkel, L.Molecular Psychiatry 18:1041-1048, 2013. 
  • Common DNA methylation alterations in multiple brain regions in autism.Ladd-Acosta, C., Hansen, K., Brien, E., Fallin, M. Kaufman, W. and Feinberg, A.Molecular Pychiatry, 1-10, 2013. 
  • Mitochondrial abnormalities in temporal lobe of autistic brain.Tang et alNeurobiology of Disease 54: 349-361, 2013. 
  • Eps8 controls dendritic spine density and synaptic plasticity through its actin-capping activity.Menna, E., Zambetti, S., Morini, R., et alThe EMBO J 1-15, 2013 
  • Stereoligical study of the neuronal number and volume of 38 brain subdivisons of subjects diagnosed with autism reveals significan alterations restricted to the striatum, amygdala and cerebellum.Wegiel, J., Flory, M., Kuchna, I., Nowicki, K., Ma, S.Y., Imaki, H., Wegiel, J., Cohen, I.L., London, E., Wisniewski, T. and Brown, W.T.Acta Neuropath. Commuications 2: 141, 2014. 
  • Ubiquitin-proteasome dependent degradation of GABA A alpha1 in autism spectrum disorder.Crider, A., Pandya, C.D., Peter, D., Ahmed, A.O., and Pillai, A.Molecular Autism 5:45, 2014. 
  • Patches of Disorganization in the Neocortex of Children with Autism.Stoner, R., Chow, M.L., Boyle, M.P., Sunkin, S.M., Mouton, P.R., Roy, S., Wynshaw-Boris, A., Colamarino, S.A., Lein, E.S., and Courchesne, E.NEJM 370:1209-1219, 2014. 
  • Dysregulation of estrogen receptor beta (ERbeta), aromatase (CYP19A1), and ER co-activators in the middle frontal gyrus of autism spectrum disorders subjects.Crider, A., Thakkar, R., Ahmed, A.O., and Pillai, A.Molecular Autism 5:46, 2014. 
  • Allelic expression analysis in the brain suggests a role for heterogeneous insults affecting epigenetic processes in autism spectrum disorders.Ben-Daive, E., Shohat, S., and Shifman, S.Human Mol. Genetics, 2014, 1-14. 
  • Family-Bases Clinical Associations and Functional Characterization of the Serotonin 2A receptor Gene (HTR2A) in Autims Spectrum Disorder.Smith, R.M., Banks, W., Hansen, E. Sadee, W. and Herman, G.E.Autism Research 7(4) 459-467, 2014. 
  • Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.Li, J., Shi, M., Ma, Z., Zhao, S., Euskirchen, G., Ziskin, J., Urban, A., Hallmayer, J. and Snyder, M.Molec. Syst. Biol. 10:774, 2014. 
  • Downregulation of GABA-A receptor protein subunits a6, b2, d, e, g2, t, and p2 in superior frontal cortes of subject with autism.Fatemi, S.H., Reutiman, T.J., Folsom, T., Rustan, O.G., Rooney, R.J. and Thuras, P.D.J. Autism Dev. Disord. online doi.10.1007/s10803-014-2078-x 
  • Pharocogenetic inhibition of eIF4E-dependent Mmp9 mRNA translation reverses Fragile X syndrome-like phenotypes.Gkogkas, C.G. et al.Cell Reports 9, 1-14, 2014. 
  • Altered glial marker expression in autistic post-mortem prefrontal cortex and cerebellum.Edmonson, C., Ziats, M N., and Rennert, O.M.Molecular Autism 5:3, 2014 
  • Functional characterization of FABP3, 5 and 7 gene variants identified is schizophrenia and autism spectrum disorder and mouse behavior studies.Shimamoto, C. et al.Human Molecular Genetics, 2014, 1-17. 
  • Protemic analysis of post mortem brain tissue from autism patients: evidence for opposite changes in oprefrontal corte and cerebellum in synaptic connectivity-related proteins.Broek, J.A.C., Guest,P.C.,Rahmoune, H. and Bahn, S.Molecular Autism 5:41, 2014. 
  • Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning DeficitsTang et alNeuron (2014), http://dx.doi.org/10.1016/j.neuron.2014.07.040 
  • Identification of differentially expressed microRNAs across the developing human brain.Ziats, M.N. and Rennert, O.M.Molecular Psychiatry 19: 848-852, 2014. 
  • A highly conserved program of neuronal microexons is misregulated in autistic brains.Irimia, M., Weatheritt, R.J., Ellis, J..D., Parikshak, N.N., Gonatopoulous-Pournatizis, T., Babor, M., Quesnel-Vallieres, M., Tapil, J., Raj, B., O'Hanlon, D., Barrios-Rodiles, M., Sternberg, M.J.E., Cordes, S.P., Roth, F.P., Wrana, J.L. and GeschCell 159:1511-1523, 2014. 
  • NTRK2 Expression Deficit in Laser Captured Pyramidal Neurons from the Anterior Cingulate Cortex in Males with Autism Spectrum Disorder.Chandley, M.J., Crawford, J.D., Szebeni, K., Crawford, J., and Ordway, G.A.Mol. Autism (In Press) 
  • Elevated GFAP Protein in Anterior Cingulate Cortical White Matter in Males with Autism Spectrum Disorder.Crawford, J.D., Chandley, M.J., Szebeni, A., Waters, B., and Orday, G.A.Autism Research (in Press) 
  • Neuronal nucleus and cytoplasm volume deficit in children with autism and volume increase in adolescents and adultsWegiel, J., Flory, M., Kuchna, I., Nowicki, K., Ma, S.Y., Imaki, H. Wegiel, J., Frachowiak, J., Kolecka, B.M., Wierzba-Bobrowicz, 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 developmentally regulated but deficient in Rett and autism 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 and correlates with aberrant MECP2 promotor methylation.Nagarajan, R.P., Hogart, A.R., Gwye, Y., Martin, M.R. and LaSalle, J.M.Epigenetics 1(4): 172-182, 2006. 
  • Dynamic changes in histone H3 lysine 9 acetylation localization 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 expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.Hogart, A., Nagarajan, R.P., Yasui, D.H., Patzel, K.A. and LaSalle, J.M.Human Mol. Genetics 16:691-703, 2007. 
  • Reciprocal co-regulation if EGR2 and MECP2 is disrupted in Rett syndrome and autism.Swanberg, S., Nagarajan, R., Peddada, s., Yasuiand, D and LaSalle, JHuman Mol. Genetics 18(3): 525-534, 2009. 
  • 15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain.Yasui, D., Scoles, H., Horike, S., Meguro-Horike, M., Dunaway, K., Schroeder, D. and LaSalle, J.Human Molecular Genetics 20:4311-4323, 2011 
  • Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome. Plummer, J.T., Evgrafov, O.V., Bergman, M.Y., Fries, M., Haiman, C.A.,Levitt, P. and Aldinger, K.A.Transl. Psychiatry 3:e316, 2013. 
  • Comparative DNA methylation among females with neurodevelopmental 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. 
  • Autism Spectrum Disorder/Fragile X
  • Metabolic Glutamate Receptor 5 Upregulation in Children with Autism is Associated with Underexpressed of Both Fragile X Mental Retardation Protein and GABAa Receptor Beta 3 in Adults with AutismFatemi, H., Folsom, T., Kneeland, R., Liesch, S.The Anatomical Record 294(1)1635-1645, 2011. 
  • Impairment of fragile X mental retardation protein-metabotropic glutamate receptor 5 signaling and its downstream cognates ras-related C3 botulinum toxin substrate 1, amyloid beta A4 precursor protein, striatal-enriched protein tyrosine phosphataFatemi, S., Folosom, T., Kneeland, R., et alMolecular Autism 4: 21-38, 2013 
  • Phosphorylated fragile X mental retardation protein at serinve 499, is reduced in cerebellar vermis and superior frontal cortex of subjects with autism: impl;ications for fragile X mental retardation protein-metabotropic glutamate receptor 5 signaRustan, O.R., Folsom, T.D., Yousefi, M.K. and Fatemi, S.H.Molecular Autism 4:41, 2013. 
  • Autism Spectrum Disorder/Schizophrenia
  • Prenatal expression patterns of genes associated with neuropsychiatric disorders.Birnbaum, R., Jaffe, A.E., Hyde, T.M., Kleinman, J.E. and Weinberger, D.R.Amer. J. Psychiatry - In Press 
  • Prenatal expression patterns of genes associated with neuropsychiatric disorders.Birnbaum, R., Jaffe, A.E., Hyde, T.M., Kleinman, J.E. and Weinberger, D.R.Amer. J. Psychiatry - In Press 
  • Autoimmune Diseases
  • Novel molecular mechanism involving [alpha] 1D (Cav1.3) L-type calcium channel in autoimmune-associated sinus bradycardia.Circulation, 111(23): 3034-3041, 2005. 
  • Batten Disease
  • Endoplasmic reticulum stress-induced caspase-4 activation 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 activatio of caspase-9 and contributes to rapid neurodegeneration 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 a paternally expressed transcript and loss of imprinting in Beckwith-Wiedemann syndrome.Smilinich, N.J., Day, C.D., Fitzpatraick, G.V., Caldwell, G.M., Lossie, A.C., Cooper, P.R., Smallwoood, A.C., Joyce, J.A., Schofield, P.N., Reik, W., Nicholls, R.D., Weksberg, R., 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 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 myelin transcription factor 1 (MYT1), a zinc finger DNA-binding protein.Armstrong, R.C., Migneault, A., Shegog, M.L., Kim, J.G., Hudson, L.D., and Hessler, R.B.J. Neuropath. Exper. Neurol. 56: 772-781, 1997. 
  • The identification of novel therapeutic targets for the treatment of maligant brain tumors.Kroes, R.A., Jastrow, A., McLone, M.G., Yamamoto, H., Colley, P., Kersey, D.S., Yong, V.W., Mkrdichian, E., Cerullo, L., Leestma, J. and Moskal, J.R.Cancer Letters 156:191-198, 2000. 
  • BP1, a new homeobox gene, is frequently expressed in acute leukemias.Haga, S.B., Fu, S., Karp, J.E., Ross, D.D., Williams, D.M., Hankins, W.D., Behm, F., Ruscetti, F.W., Chang, M., Smith, B.D., 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., 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 for the growth and survival of sonic Hedgehog-induced medulloblastomas.Hallahan, A., Pritchard, J., Hansen, S., Benson, M., Stoeck, J., Hatton, B., Russell, T., Ellenbogen, R., Berntien, I., Beachy, Ph. and Olson, J.Cancer Research 64: 7794-7800, 2004. 
  • Novel tumor-specific isoforms of BEHAB/Brevican identified in human malignant gliomas.Viapiano, M., Bi, W., Piepmeier, J., Hockfield, S. and Matthews, R.Cancer Res. 65: 6726-6733, 2005. 
  • The proteoglycan brevican binds to fibronectin after protelytic cleavage and promotes glioma cell motility.Hu, B., Kong, L., Matthews, R.T., Viapiano, M.S.J. Biol. Chem. 283: 24848-24859, 2008. 
  • BEHAB/brevican requies ADAMTS-mediated proteolytic cleavage to promote glioma invasion.Viapiano, M.S., Hockfield, S., Matthews, R.T.J. Neuro-oncology 88: 261-272, 2008. 
  • Epigenetics of a tandem DNA repeat: chromatin DNasel sensitivity and opposite methylation changes in cancers.Tsumagari, K., Qi, L, Jackson, K., Shao, C., Lacey, M. Sowden, J., Tawil, R, Vedanarayanana, V. and Ehrlich, M.Nucleic Acids Research 36: 2196-2207, 2008. 
  • Fibulin-3 is uniquely upregulated in malignant gliomas and 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 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 electrospun polycaprolactone using time-lapse microscopy.Johnson, J., Nowicki, M.O., Lee, C.H., Chiocca, E.A., Viapiano, 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 
  • Developmental Regulation and Induction of Cytochrome P450 2W1, an Enzyme Expressed in Colon Tumors.Choong, E., Guo, J., Persson, A., Virding, S., Johansson, I., Mkrtchian, S., and Ingelman-Sundberg, M.PLOS ONE 10(4):e0122820. 
  • Cerebral-Cerebellar Atrophy
  • Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizuresZhang, X., Ling, J., Barcia, G., Jing, L., Wu, J., Barry, B.J., Mochida, G.H., Hill, R.S., Weimer, J.M., Stein, Q., Poduri, A., Partlow, J.N., Ville, D., Dulac, O., Yu, T.W., Munnich, A., Colleaux, L., Zon, L.I., Soll, D., Walsh, C.A. and Nabbout,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., Stanescu, H.C., Inada, H., Shi, Y., Taye, A.A., Kong, L., Munns, C.H., Choo, S.S., Phelps, C.B., Houlden, H., Ludlow, C.L., Caterina, M.J., Gaudet, R., Kleta, R., Fischbeck, K.H. and SumnNature Genetics 42(2): 170-174, 2010. 
  • Cockayne Syndrome
  • Blinded by the UV light: How the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic disease.Brooks, P.J.DNA Repair 12:656-671, 2013. 
  • Congenital Long-QT Syndrome
  • Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia.Murphy, L., Moon-Grady, A., Cuneo, B., Wakai, R., Yu, S., Kunic, J., Benson, W. and George, A.Heart Rhythm 9:590-597, 2012. 
  • Dementia
  • Immunologic NO synthase: Elevation in severe AIDS dementia and induction by HIV-1 gp41.Adamson, D.C., Wildemann, B., Sasaki, M., Glass, J.D., McArthur, J.C., Christov, V.I., Dawson, T.M. and Dawson, V.L.Science, 274:1917-1921, 1996. 
  • Relationship between human immunodeficiency virus-associated dementia and viral load in cerebrospinal fluid and brain.McArthur, J.C., McClernon, D.R., Cronin, M.F., Nance-Sproson, 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 rhabdoid tumors and other pediatric brain tumors.Chakravadhanula, M., Ozols, V. V., Hampton, C.N., Zhou, L., 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 suprachiasmatic nuclei.Weaver, D.R. and Reppert, S.M.NeuroReport 8:109-112, 1996. 
  • Distribution of glutamate transporter subtypes during human brain development.Bar-Peled, O., Ben-Hur, H. Biegon, A., Groner, Y., Dewhurst, S., Furuta, A. and Rothstein, J.D.J. Neurochem. 69:2571-2580, 1997. 
  • Immunoblotting patterns of cytoskeletal dendritic protein expression in human neocortex.Kaufmann, W.E., Taylor, C.V. and Lishaa, N.A.,Mol. Chem. Neuropathol. 31:235-244, 1997. 
  • Developmental anatomy of prefrontal cortex.Huttenlocher, P.R. and Dabholkar, A.S."Development of the Prefrontal Cortex: Evolution, Neurobiol" book, 1997. 
  • Synchronized overproduction of AMPA, Kainate, and NMDA glutamate receptors during human spinal cord development.Kalb, R.G. and Fox, A.J.J. Compar. Neurol. 384:200-210, 1997. 
  • Regional differences in synaptogenesis in human cerebral cortex.Huttenlocher, P.R. and Dabholkar, A.S.J. Compar. Neurol. 387:167-178, 1997. 
  • Isolation and culture of primary Schwann cells from human fetal peripheral nerve.Lopez, T.J. and DeVries, G.H.Experim. Neurol. 158:1-8, 1999. 
  • cDNA cloning, chromosomal localization, and expression analysis of human BEHAB/brevicam, a brain specific proteoglycan regulated during cortical development and in glioma.Gary, S.C., Zerillo, C.A., Chiang, V.L., Gaw, J.U., Gray, G., and Hockfield, S.Gene 256:139-147, 2000. 
  • Expression patterns of epidermal growth factor receptor and fibroblast growth factor receptor 1 mRNA in fetal human brain.Fu, L., Abu-Khalil, A., Morrison, R.S., Geschwind, D.H. and Kornblum, H.I.J. Compar. Neurology 462: 265-273, 2003. 
  • Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain.Ferland, R.J., Cherry, T.J., Preware, P.O., Morrisey, E.E. and Walsh, C.A.J. Comp. Neurol. 460: 266-279, 2003. 
  • Wnt genes define distinct boundaries in the developing human brain: implications for human forebrain patterning.Abu-Khalil, Ful, L, Grove, E., Zecevic, N. and Geschwind, D.J. Comparative Neurology 474: 276-288, 2004. 
  • Age-dependent telomere attrition as a potential indicator of racial differences in renal growth patterns.Tchakmakjian, L, Gardner, J., Wilson, P., Kimura, M., Skurnick, J., Zielke, H.R. and Aviv. A.Nephron Exp Nephrol 98: e82-e88, 2004. 
  • Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.Jen, J., Chan, W., Bosley, T., Wan, J., Carr, J., Rub, U., Shattuck, D., Salamon, G., Kudo, L., Ou, J., Lin, D., Salih, M., Kansu, T., Dhalaan, H., Zayed, Z., MacDonald, D., Stigsby, B., Plaitakis, A., Dretakis, E.... Geschwind, D., et al.Science 304: 1509-1513, 2004. 
  • Developmental lag in superoxide dismutases relative to other antioxidant enzymes in premyelinated human telencephalic white matter.Folkerth, R., Haynes, R., Borenstein, N., Belliveau, R., Trachtenberg, F., Rosenberg, P., Volpe, J. and Kinney, H.J. Neuropath.Experim. Neurology 63: 990-999, 2004. 
  • Gene regulation and DNA damage in the ageing human brain.Lu, T., Pan, Y., Kao, S., Li, C., Kohane, I., Chan, J. and Yankner, B.Nature 429: 883-891, 2004. 
  • Axonal development in the cerebral white matter of the human fetus and infant.Haynes, R., Borenstein, N., Desilva, T., Folkerth, R., Liu, L., Volpe, J. and Kinney, H.J. Comparative Neurology 484: 156-167, 2005. 
  • Development of human visual cortex: a balance between excitatory and inhibitory plasticity mechanisms.Murphy, K., Beston, B., Boley, P. and Jones, D.Developmental Psychobiology, 46: 209-221, 2005. 
  • Early asymmetry of gene transcription in embryonic human left and right cerebral cortex.Sun, T., Patoine, C., Abu-Khalil, A., Visvader, J., Sum, E., Cherry, T., Orkin, S., Geschwind, D. and Walsh, C.Science 308: 1794-1798, 2005. 
  • Lamin A-dependent nuclear defrects in human aging.Scaffidi, P. and Misteli, T.Science 312: 1059-1063, 2006. 
  • White and gray matter development in human fetal, newborn and pediatric brains.Huang, H., Zhang, J., Wakana, S., Zhang, W., Ren, T., Richards, L.., Yarowsky, P., Donohue, P., Graham, E., van Zijl, P.C.M. and Mori, S.NeuroImage 33: 27-38, 2006. 
  • White and gray matter development in human fetal, newborn and pediatric brains.Huang, H., Zhang, J., Wakana, S., Zhang, W., Ren, T., Richards, L.., Yarowsky, P., Donohue, P., Graham, E., van Zijl, P.C.M. and Mori, S.NeuroImage 33: 27-38, 2006. 
  • X chromosome gene expression in human tissues: male and female comparisons.Talebizadeh, Z., Simon, S and Butler, M.Genomics 88: 675-681, 2006. 
  • Carbonic anhydrase II in the developing and adult human brain.Kida, E., Palminiello, S., Golabeck, A., Walus, M., 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., Kere, J., Voskuil, J., Rosen, G., Galaburda, A. and Loturco, J.Neuroscience 143: 515-522, 2006. 
  • Developmental regulation of a-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid receptor subunit expression in forebrain and relationship to regional susceptibility to hypoxic/ischemic injury. II. Human cerebral white matter and cortex.Talos, D., Follett, P., Folkerth, R., Fishman, R., Trachtenbert, F., Volpe. J. and Jensen, F.J. Comparative Neurology 497:61-77, 2006. 
  • NKCC1 transporter facilitates seizures in the developing brain.Dzhala, V., Talos, D., Sdrulla, D., Brumback, A., Mathews, G., 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 pediatric brains.Huang, H., Zhang, J., Wakana, S., Zhang, W., Ren, T., Richards, L.., Yarowsky, P., Donohue, P., Graham, E., van Zijl, P.C.M. and Mori, S.NeuroImage 33: 27-38, 2006. 
  • Imaging, anatomical, and molecular analysis of callosal formation in the developing human fetal brain.Ren, T., Anderson, A., Shen, W., Huang, H., Plachez, C., Zhang, J., Mori, S., Kinsman, S. and Richards, L.Anat. Rec. A. Discov. Mol. Cell Evol. Biol. 288A: 191-204, 2006. 
  • Synaptophysin and postsynaptic density protein 95 in the human prefrontal cortex from mid-gestation into early adulthood.Glantz, L., Gilmore, J., Hamer, R., Lieberman, J and Jarskog, L.Neuroscience 149: 582-591, 2007. 
  • Early rapid rise in EAAT2 expression follows the period of maximal seizure susceptibility in human brain.Lauriat, T., Schmeidler, J. and McInnes, L.Neurosci. Lett. 22: 412(1) 89-94, 2007. 
  • The role of neonatal carnitine palmitoyl transferase deficiency type II on proloferation of neuronal progenitor cells and layering of the cerebral cortex in the developing brain.Chang, H., and Faust, P.Columbia Undergrad Science Journal, Spring 2007, vol 2, issue 1. 
  • Identification of the transciptional targets of FOXP2, a gene linked to speech and language, in developing human brain.Spiteri, E., Konopka, G., Coppola G., Bomar, J., Oldham, M., Ou, J., Vernes, S., Fisher, S., Ren, B., Geschwind, D.The American Journal of Human Genetics 81: 1144-1157, 2007. 
  • DNA methylation in the human cerebral coretx is dynamically regulated throughout the life span and involves differentiated neurons.Siegmund, K., Connor, C., Campag, M., Long, T., Weisenberger, D., Biniszkiewicz, D., Jaenisch, R., Laird, P. and Akbarian, S.PLoS One, Sept. 2007, issue 9, e895. 
  • Regulation of Complexin 1 and complexin 2 in the Developing Human Prefrontal Cortex.Salimi, K., Glantz, L., Hamer, R., German, T., Gilmore, J. and Jarskog, L.Synapse 62:273-282, 2008. 
  • Gender influences monoallelic expression of ATP10A in human brain.Hogart, A., Patzel, K. and LaSalle, J.Hum. Genet. 124: 235-242, 2008. 
  • Specific developmental reductions in subventricalar zone ErbB1 and ErbB4 mRNA in the human brain.Chong, V., Webster, M., Rothmond, D and Weickert, C.Int. J. Dev. Neurosci. 26:791-803, 2008 . 
  • Gene expression changes in the course of normal brain aging are sexually dimorphic.Berchtold, N.C., Cribbs, D.H., Coleman, P.D., Rogers, J., Head, E., Beach, T., Miller, C., Troncoso, J., Trojanowski, J., Zielke, H.R.. and Cotman, C.W.PNAS 105(40): 15605-15610, 2008. 
  • A set of differentially expressed miRNAs, inclluding miR-30a-5p, act a s post-transcriptional inhibitors of BDNF in prefrontal cortex.Mellios, N., Huang, H., Grigorenko, A., Rogaev, E. and Akbarian, S.HMG 17: 3030-3042, 2008. 
  • Anatomical characterization of human fetal brain development with diffusion tensor magnetic resonance imaging.Huang, H., Xue, R., Zhang, J., Ren, T., Richards, L.J., Yarowsky, P., Miller, M.I. and Mori, S.J. Neuroscience 29:4263-4273, 2009. 
  • Developmental regulation of neural cell adhesion molecule in human prefrontal cortex.Cox, E., Brennaman, L, Gable, K., Hamer, R., Glantz, L., Lamantia, A., Lieberman, J., Gilmore, J., Maness, P., and Jarskog, L.Neuroscience 162: 96-105, 2009. 
  • Anatomical characterization of human fetal brain development with diffusion tensor magnetic resonance imaging.Huang, H., Xue, R., Zhang, J., Ren, T., Richards, L.J., Yarowsky, P., Miller, M.I., Mori, S.Journal of Neuroscience 29(13): 4263-4273, 2009. 
  • Neocortical RELN promoter methylation increases significantly after puberty.Lintas, C. and Persico, A.M.NeuroReport 21:114-118, 2010. 
  • Developmental regulation and individual differences of neuronal H3K4me3 epigenomes in the prefrontal cortex.Cheung, I., Shulha, H.P., Jiang, Y., Matevossian, A., Wang, J., Weng, Z., and Akbarian, S.PNAS Early Edition, 2010. 
  • Structure of the fetal brain: What we are learning from diffusion tensor imaging.Huang, H. Neuroscientist 16:634-649, 2011. 
  • Imputation of sequence variants for identification of genetic risks for Parkinson's disease: A meta-analysis of genome-wide association studies.Nalls, M.A., Plagnol, V., Hernandez, D.G., Shrma, M., et al.Lancet 377:641-649, 2011. 
  • A two-stage meta-analysis identifies several new loci for Parkinson's disease. PLoS Gwenetics 7(6)PLoS Genetics 7(6):e1002142, 2011. 
  • Identification of common variants influencing risk of the taupathy progressive supranuclear palsy.Hoglinger, G.U., Melhem, N.M., Dickerson, D.W. Sleiman, P.M.A. et al.Nature Genetics 43(7):699-705, 2011. 
  • 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. 
  • Integration of GEAS NPs and tissue specific expresssion profiling 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. 
  • Coupling diffusion imaging with histological and gene expression analysis to examine the dynamics of cortical areas across the fetal period of human brain development.Huang, H., Jeon, T., Sedmak, G., Pletikos, M., Vasung, L., Xu, X., Yarowsky, P., Richards, L.J., Kostovic, I., Sestan, N. and Mori, S.Cerebral Cortex 23:2620-2631, 2013. 
  • Prolonged myelination in human neocorticalevolution.Miller, D.J. et al.PNAS 109:16480-16485, 2012. 
  • Prolonged myelination in human neocorticalevolution.Miller, D.J. et al.PNAS 109:16480-16485, 2012. 
  • Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain.Evrony, G.D., Cai, X., Lee, E., Hills, B., Elhosary, P.C., Lehmann, H.S., Parker, J.J., Atabayt, K.D., Gilmore, E.C., Poduri, A., Park, P.J. and Walsh, C.A.Cell 151:483-496, 2012. 
  • Coupling diffusion imaging with histological and gene expression analysis to examine the dynamics of cortical areas across the fetal period of human brain development.Huang, H., Jeon, T., Sedmak, G., Pletikos, M., Vasung, L., Xu, X., Yarowsky, P., Richards, L.J., Kostovic, I., Sestan, N. and Mori, S.Cerebral Cortex 23:2620-2631, 2013. 
  • Coupling diffusion imaging with histological and gene expression analysis to examine the dynamics of cortical areas across the fetal period of human brain development.Huang, H., Jeon, T., Sedmak, G., Pletikos, M., Vasung, L., Xu, X., Yarowsky, P., Richards, L.J., Kostovic, I., Sestan, N. and Mori, S.Cerebral Cortex 23:2620-2631, 2013. 
  • Integration of GWAS SNPS and tissue specific expression profiling 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: 
  • Coupling diffusion imaging with histological and gene expression analysis to examine the dynamics of cortical areas across the fetal period of human brain development.Huang, H., Jeon, T., Sedmak, G., Pletikos, M., Vasung, L., Xu, X., Yarowsky, P., Richards, L.J., Kostovic, I., Sestan, N. and Mori, S.Cerebral Cortex 23:2620-2631, 2013. 
  • Human-specific transcriptional networks in the brain.Konopka, G. et al.Neuron 75:601-617, 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. 
  • MAPT expression and splicing is differentially regulated by brain 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. 
  • Coupling diffusion imaging with histological and gene expression analysis to examine the dynamics of cortical areas across the fetal period of human brain development.Huang, H., Jeon, T., Sedmak, G., Pletikos, M., Vasung, L., Xu, X., Yarowsky, P., Richards, L.J., Kostovic, I., Sestan, N. and Mori, S.Cerebral Cortex 23:2620-2631, 2013. 
  • Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.Hills, L., Masri, A., Konno, K., et al.Neurology pub online 9-27-13 
  • 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. 
  • 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. 
  • Human von economo neurons express transcription factors associated with layer V subcerebral projection neurons.Cobos, I. and Seeley, W.W.Cerebral Cortex 2013 doi:10.1093/cercor/bht219 
  • A meta-analysis identifies new loci associated with body mass 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. 
  • Widespread sex differences in gene expression and splicing in the adult human brain.Trabzuni, D., Ramasamy, A., Imran, S. Walker, R., et al.Nature Communication 4:2771, 2013. 
  • Unbiased screen for interactions of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease.Beilina, A., Rudenko, I.N., Kaganovich,A.,Civiero, L., Chau, H. et al.Proc.Natl. Acad.Sci. USA 111:2626-2631, 2014. 
  • Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterningBae, B., Tietjen, I., Atabay, K.D., Evrony, G.D., Johnson, M.B., Asare, E., Wang, P.P., Murayama, A.Y., Im, K., Lisgo, S.N., Overman, L., Sestan, N., Chang, B.S., Barkovich, A.J., Grant, P.E., Topcu, M., Politsky, J., Okano, H., Piao, X. and Walsh,Science 343: 764-768, 2014. 
  • Evolutionary dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterningBae, B., Tietjen, I., Atabay, K.D., Evrony, G.D., Johnson, M.B., Asare, E., Wang, P.P., Murayama, A.Y., Im, K., Lisgo, S.N., Overman, L., Sestan, N., Chang, B.S., Barkovich, A.J., Grant, P.E., Topcu, M., Politsky, J., Okano, H., Piao, X. and Walsh,Science 343: 764-768, 2014. 
  • Neanderthal ancestory drives evolution of lipid catabolism in contemporary Europeans.Khrameeva, E.E., Bozek, K., He, L. et al.Nature Communications 5:3584, 2014. 
  • Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning..Bae, B-I. et al.Science 343:764768, 2014. 
  • Neurogenesis in the striatum of the adult human brain.Ernst, A., Alkass, K., Bernard, S., Salehpour, M., Peri, S., Tisdale, J. Possnert, G, Druid, H. and Frisen, J.Cell 156::1072-1083, 2014. 
  • A unique ion channel clustering domain on the axon initial segment of mammalian neurons.King, A.N., Manning, C..F. and Trimmer, J.S.J. Comparative Neurology 522:2594-2608, 2014. 
  • Dynamics ofoligodendrocyte generation and myelination in the human brain.Yeung, M..S.Y., Zdunek, S., Bergmann, O., Bernard, S., Salehpour, M., Alkass, K., Perl, S., Tisdale, J., Possnert, G., Brundin, L., Druid, H., and Frisen, J.Cell 159:766-774, 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 
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  • Developmental Studies
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  • Human gamma-aminobutyric acid-type A receptor a5 subunit gene (GABRA5): characterization and structural organization of the 5' flanking region.Kim, Y., Glatt, H., Xie, W., Sinnett, D. and Lalande, M.Genomics 42: 378-387, 1997. 
  • A secreted DNA-Binding protein that is translated through an internal ribosome entry site (IRES) and distributed in a discrete pattern in the central nervous system.Kim, J.G., Armstrong, R.C., Berndt, J.A., Kim, N.W. and Hudson, L.D.Mol. Cell. Neurosci. 12:119-140, 1998. 
  • Divergently transcribed overlapping genes expressed in liver and kidney and located in the 11p15,5 imprinted domain.Cooper, P.R., Smilinich, N.J., Day, C.D., Nowak, N.J., Reid, L.H., Pearsall, R.S., Reece, M., Prawitt, D., Landers, J., Housman, D.E., Winterpacht, A., Zabel, B.U., Pelletier, J., Weisman, B.E., Shows, T.B. and Higgins, M.J.Genomics 48:38-51, 1998. 
  • Isolation of Ca2+ channel a1A, a2, and beta subunit segments from human spinal cord RNA.Hajela, R.K. and Atchison, W.D.Annals NY Acad. Sci., 841: 115-118, 1998. 
  • Traumatic brain injury increases ß-Amyloid peptide 1-42 in cerbrospinal fluid.Raby, C., Morganti-Kossmann, M., Kossmann, T, Stahel, P., Watson, M., Evans, L., Mehta, P., Spiegel, K., Kuo, Y, Roher, A. and Emmerling, M.J. Neurochem. 71: 2505-2509, 1998. 
  • Localization of ADP-ribosylation factor domain protein 1 (ARD1) in lysosomes and golgi apparatus.Vitale, N., Horiba, K., Ferrans, V., Moss, J. and Vaughan, M.Proc. Natl. Acad. Sci., 95: 8613-8618, 1998. 
  • Visualization of chemokine binding sites on human brain microvessels.Andjelkovic, A., Spencer, D. and Pachter, J.J. Cell Biol. 145: 403-412, 1999. 
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  • Activation of a TRPC3-dependent cation current through the neurotrophin BDNF.Li, H.-S., Xu, X.-Z.,S. and Montell, C.Neuron 24:261-273, 1999. 
  • Dendritic anomalies in disorders associated with mental retardation.Kaufman, W.E. and Moser, H.W.Cerebral Cortex 10:981-991, 2000. 
  • Gene expression of Na+/Ca2+ exchanger during development in human heart.Qu, Y., Ghatpande, A., El-Sherif, N. and Boutjdir, M.Cardiovasc. Res. 45:866-873, 2000. 
  • Dendritic anomalies in disorders associated with mental retardation.Kaufman, W.E. and Moser, H.W.Cerebral Cortex 10:981-991, 2000. 
  • Binding of antipsychotic drugs to human brain receptors. Focus on newer generation compounds.Richelson and Souder, T.Life Sci. 68:29-39, 2000. 
  • Identification of cadherin-11 down-regulation as a common 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 occudens toxin (Zot) receptor from human brain.Lu, R., Wang, W., Uzzau, S., Vigorito, R., Zielke, H.R. and Fasano, A.J. Neurochem. 74:320-326, 2000. 
  • Subunit composition and novel localization of K+ channels in spinal cord.Rasband, M.N. and Trimmer, J.S.J. Comp. Neurol. 429:166-176, 2001. 
  • Apotosis, neuronal maturation, and neurotrophin expression within medulloblastoma nodules.Eberhart, C.G., Kaufmann, W.E., Tihan, T. and Burger, P.C.J. Neuropath. Exp. Neurol. 60: 462-469, 2001. 
  • The hyaluronan receptor RHAMM/IHABP in astrocytoma cells: expression of a tumor-specific variant and association with microtubules.Zhou, R., Wu, X. and Skalli, O.J. of Neuro-Oncology 59: 15-26, 2002. 
  • Human ARX gene: genomic characterization and expression.Ohira, R., Zhang, Y.H., Guo, W., Dipple, K., Shih, S.L., Doerr, B.L., Huang, B.L., Fu, L.J., Abu-Khalil, A., Geschwind, D. and McCabe, E.R.B.Mol. Gen. Met. 77: 179-188, 2002. 
  • Human hepatic flavin-containing monooxygenases 1 (FMO1) and 3 (FMO3) developmental expression.Sevasti B. Koukouritaki, Pippa Simpson, Catherine K. Yeung, Allan E. Rettie, and Ronald N. HinesPediatric Research 51:236-243, 2002. 
  • Peripheral antigen-expressing cells and autoimmunity.Pugliese, A.Endocrinology and Metabolism Clinics in North America, 31:411-430, 2002. 
  • Transcriptional suppression of the adrenal cortical peripheral-type benzodiazepine receptor gene and inhibition of steroid synthesis by ginkgolide B.Amri, H., Drieu, K. and Papadopoulos, V.Biochemical Pharmacology 65: 717-729, 2003. 
  • Genetic variability at the human FMO1 locus: significance of basal promoter yin yang 1 element polymorphism (FMO1*6).Hines, R.N., Luo, Z., Hopp, K.A., Cabacungan, E.T., Koukouritaki, S.B. and McCarver, D.G. J. Pharmacol. Exp. Therap. 306(3):1210-1218, 2003. 
  • Elevated gene expression levels destinguish human from non-human primate brains.Caceres, M., Lachuer, J., Zapala, M., Redmond, J., Kudo, L., Geschwind, D., Lockhart, D., Preuss, T. and Barlow, C.PNAS: 100, 13030-13035, 2003. 
  • High-resolution voxelation mapping of human and rodent brain gene expression.Singh, R., Brown, V., Chaudhari, A., Khan, A., Ossadtchi, A., Sforza, D., Meadors, A., Cherry, S., Leahy, R. and Smith, D.J. Neuroscience Methods 125: 93-101, 2003. 
  • Gene stucture and alternative splicing of glycogen synthase 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., Hines, R. and McCarver, D.J. Pharmacol. Expt. Ther. 307:402-407, 2003. 
  • Developmental expression of the major human hepatic CYP3A enzymes.Stevens, J., Hines, R., Gu, C., Koukouritaki, B. , Manro, J. Tandler, P., and Zaya, M.J. Pharmacol. Expt. Ther. 307: 573-582, 2003. 
  • Elevated gene expression levels distinguish human from non-human primate brains.Caceres, M., Lachuer, J., Zapala, M., Redmond, J., Kudo, L., Geschwind, D., Lockhart, D., Preuss, T. and Barlow, C.PNAS: 100, 13030-13035, 2003. 
  • Phylogenetic changes in the expression of delta opioid receptors in spinal cord and dorsal root ganglia.Mennicken, F., Zhang, J., Hoffert, C., Ahmad, S., Beaudet, A., and O'Donnell, D.J. Compar. Neurology 465: 349-360, 2003. 
  • Agonist-independent nuclear localization of the apelin, angiotensin AT, and bradykinin B2 receptors.Lee, D., Lanca, J., Cheng, R., Nguyen, T., Ji, X.,, Gobeil, F., Chemtob, S., George, S and O'Dowd.J. Biol. Chem. 279: 7901-7908, 2004. 
  • Central and peripheral autoantigen presentation in immune tolerance.Pugliese, A.Immunology, 111:138-146 
  • In vitro characterizaiton of 6-[18F] fluoro-A-85380, a high-affinity ligand for a4B2* nicotinic acetylcholine receptors.Gundisch, D., Koren, A., Horti, A., Pavlova, O., Kimes, A., Mukhin, A. and London, E.Synapse 55: 89-97, 2004. 
  • Apelin, a new enteric peptide: Localization in the gastrointesinal tract, ontogeny, and stimulation of gastric cell proliferation and of cholecystokinin secretion.Wang, G., Anini, Y., Wei, W., Qi, X., O'Carroll, A., Mochizuki, T., Wnag, H., Hellmich, M., Englanders, E. and Greeley, G.Endocrinology 145: 1342-1348, 2004. 
  • Alternative processing events in human FMO genes.Lattard, V., Zhand, J. and Cashman, J.Mol. Pharmacol. 65: 1517-1525, 2004. 
  • Investigation of different transcript quantitation tools for high-throughput mapping of brain gene expression using voxelation.Singh, R., Liu, D., Chaudhari, A., Cherry, S., Leahy, R. and Smith, D.J. Mol. Histol. 35: 397-402, 2004. 
  • Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.Jen, Chan, Bosley, Wan, Carr, Rub, Shattuck, Salamon, Kudo, Ou, Lin, Salih, Kansu, Dhalaan, Zayed, MacDonald, Stigsby, Plaitakis, Dretakis, Gottlob, Pieh, Traboulsi, Wang, Wang, Andrews, Yamada, Demer, Karim, Alger, Geschwind, Deller, Sicote, NelsoScience 304: 1509-1513, 2004. 
  • Gene expression profiles in microdissected neurons from human hippocampal subregions.Torres-Munoz, J., Waveren, C., Keegan, M., Bookman, R. and Petito, C.Molecular Brain Research 127: 105-114, 2004. 
  • The effects of phenytoin and its metabolite 5-(4-hydroxyphenyl)-5-phenylydantoin on cellular glucose transport.Wong, H., Chu, T., Chan, Y., Fok, T., Fung, L., Fung, K. and Ho, Y.Life Sciences 76:1859-1872, 2005. 
  • Biotransformation of fluticasone: in vitro characterization.Pearce, R., Leeder, J. and Kearns, G.Drug Metab. Disp. 34: 1035-1040, 2006. 
  • Variability of CYP3A7 expression in human fetal liver.Leeder, J., Gaedigk, R., Marcucci, K., Gaedigk, A., Vyhlidal, C., Schindel, B. and Pearce, R.J. Pharmacol. Exp. Ther. 314: 626-635, 2005. 
  • Embryonic synthesis of the inner limiting membrane and vitreous body.Halfter, W., Dong, S., Schurer, B., Ring, C., Cole, G. and Eller A.Investigative Ophthalmology & Visual Science, 46: 2202-2208, 2005. 
  • Early asymmetry of gene trascription between embryonic human left and right cerebral cortex.Sun, T., Patoine, C., Abu-Khalil, A., Visvader, J., Sum, E., Cherry, T., Orkin, S., Geschwind, D., and Walsh, C.Science 308(5729): 1794-1798. 
  • Selective Vulnerability of Preterm White Matter to Oxidative Damage Defined by F2-Isoprostanes.Back, S., Luo, N., Mallinson, R., O'Malley, J., Wallen, L., Fei, B., Morrow, J., Petito, C., Roberts, C., Murdock, G. and Montine, T.Amer. Neurological Association, 58: 108-120, 2005. 
  • Sodium valproate inhibits glucose transport and exacerbates Glut1-deficiency in vitro.Wong, H., Chu, T., Lai, J., Fung, K., Y., Fok, Fujii, T. and Ho, Y.J. Cellular Biochemistry 96:7775-785, 2005. 
  • Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African Americans.Gaedigk, A., Bhathena, A., Ndjountche, L., Pearce, R., Abdel-Rahman, S., Alander, S., Bradford, L. and Leeder, S.Pharacogenomics J. 5: 173-182, 2005. 
  • Discovery of novel flavin-containing monooygenase 3 (FMO3) single nucleotide polymorphisms and functional analysis of upstream haplotype variants.Koukouritaki, SB, Poch, MT, Cabacungen, ET, McCarver, DG and Hines, RN.Molecular Pharmacology 68(2):383-392, 2005. 
  • Constitutional aneuploidy in the normal human brain.Rehen, S., Yung, Y., McCreight, M., Kaushal, D., Yang, A., Almeida, B., Kingsbury, M., Cabral, K., McConnell, M., Anliker, B., Fontanoz, M. and Chun, J.J. Neuroscience 25: 1-5, 2005. 
  • NKCC1 transporter facilitates seizures in the developing brain.Dzhala, V., Talos, D., Sdrulla, D., Brumback, A., Mathews, G., Benke, T., Delpire, E., Jensen, F. and Staley, K.Nature Medicine 11: 1205-1213, 2005. 
  • Selective vulnerability of preterm white matter of oxidative damage defined by F2-isoprostanes.Back, S., Luo, N., Mallinson, R., O'Malley, J., Wallen, L., Frei, B., Morrow, J, Petito, C., Roberts, C., Murdock, G. and Montine, T.Ann. Neurol. 58: 108-120, 2005. 
  • Allelic expression of serotonin transporter (SERT) mRNA in human pons: lack of correlation with the polymorphism SERTLPR.Lim, J., Papp, A., Pinsonneault, J., Sadée, W. and Saffen, D.Molecular Psychiatry, 1-14, 2006. 
  • Tryptophan hydroxylase 2 (TPH2) haplotypes predict levels of TPH2 mRNA expression in human pons.Lim, J., Pinsonneault, J., Sadee, W. and Saffen, D.Molecular Psychiatry 1-11, 2006. 
  • Variability of CYP2J2 expression in human fetal tissues.Gaedigk, A., Baker, D., Total, R., Gaedigk, R., Pearce, R., Vyhlidal, C., Zeldin, D. and Leeder, S.JPET 319: 523-532, 2006. 
  • CYP2D6*36 gene arrangements within the CYP2D6 locus: association of CYP2D6*36 with poor metabolizer status.Gaedigk, A., Bradford, L., Alander, S. and Leeder, J.Drug Metab Disp 34: m563-569, 2006. 
  • Nuclear receptor expression in fetal and pediatric liver: correlation with CYP3A expression.Vyhlidal, C., Gaedigk, R. and Leeder, J.Drug Metab Disp 34: 131-137, 2006 
  • Dendritic architecture of the von Economo neurons.Watson, K.K., Jones, T.K. and Allman, J.M.Neuroscience, 141(3):1107-12, 2006. 
  • CYP2D7 splice variants in human liver and brain: does CYP2D7 encode functional protein?Gaedigk, A., Gaedigk, R. and Leeder, J.Biochem. Biophys. Res. Commun. 336: 1241-1250, 2005. 
  • Application of pharmacogenomic strategies to the study of drug-induced birth defects.Leeder, J. and Mitchell, A.Clinical Pharmacology & Therapeutics 81: 595-599. 2007. 
  • Interindividual variability in acetaminophen sulfation by human fetal liver: implications for pharmacogenetic investigations of drug-induced birth defects.Adjei, A., Gaedigk, A., Simon, S., Weishilbourm, R. and Leeder, S.Birth Defects Research (part A): Clin. & Mol. Teratology 82:155-165, 2008. 
  • Pathogen specificity and autoimmunity are distinct features of antigen-driven immune responses in neuroborreliosis.Kuenzle, S., Budingen, H., Meier, M., Harrer, M., Urich, E., Becher, B. and Goebels, N.Infection and Immunity 75: 3842-3847, 2007. 
  • Neurexin 3 polymorphisms are associated with alcohol dependence and altered expression of specific isoforms.Hishimoto, A., Liu, Q, Drgon, T., Pletnikova, O., Walther, D., Zhu, X., Troncoso, J and Uhl, G.Hum. Mol. Genet. 16: 2880-2891, 2007. 
  • Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression.Chen, Z., Nelson, S. and Cohn, D.BMC Genomics 8:165-178, 2007. 
  • Comparison of X-chromosome inactivaiton patterns in multiple tissues from human females.Bittel et alJ Med Genet 45: 309-313, 2008 
  • Severe human Lower respiratory tract illness caused by respiratory syncytial virus and influenza virus is characterized by the absence of pulmonary cytotoxic lymphocyte responses.Welliver, T., Garafalo, R., Hosakote, Y., Hintz, K., Avendana, L., Sanchez, K., Velozo, L., Jafri, H., Chavez-Bueno, S., Ogra, P., McKinney, L., Reed, J. and Welliver, R.JID 195: 1126-1136, 2007. 
  • Synaptophysin and postsynaptic density protein 95 in the human prefrontal cortex from mid-gestation into early adulthood.Glantz, L., Gilmore, J., Hamer, R., Lieberman, J. and Jarskog, L.Neuroscience 149: 582-591, 2007. 
  • Genome-wide analyses of human perisylvian cerebral cortical petterningAbrahams, B., Tentler, D., Perederiy, J., Oldham, M., Coppola, G. and Gecshwind, D.PNAS 104: 17849-17854, 2007 
  • Genetic Analysis of Anterior-Posterior Expression Gradients in the Developing Mammalian Forebrain.Kudo, L.C., Karsten, S., Chen, J., Levitt, P. and Geschwind, D.Cerebral Cortex 17:2108-2122, 2007. 
  • A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol.Zhu, H., Tucker, M., Grear, K., Simpson, J., Manning, A., Cupples. L. and Estus, S.Human Molecular Genetics 16: 1765-1772, 2007 
  • Ocular motor anatomy in a case of interrupted saccades.Rucker, J., Leigh, R., Opitican, L., Keller, E., Buettner-Ennever, J.Prog. Brain Res. 171:563-566, 2008. 
  • Origin and turnover of ECM proteins from the inner limiting membrane and vitreous body.Halfter, W., Dong, S., Dong, A., Eller, A. and Nischt, R.Eye 1-7, 2008. 
  • Macrophage impairment underlies airway occlusions in primary respiratory syncytial virus bronchiolitis.Reed, J., Brewah, Y., Delaney, T., Williver, T., Burwell, T., Benjamin, E., Kuta, E., Kozhich, A., McKinney, L., Suzich, J., Kiener, P., Avendano, L, Velozo, L., Hubles, A., Welliver, R. and Coyle, A.JID 198: 1783-1793, 2008. 
  • KCNE4 can co-associate with the Iks (KCNQ1-KCNE1) channel complex.Manderfield, L. and George, A.FEBS 275: 1336-1349, 2008. 
  • Cyclin D1 in exitatory neurons of the adult brain enhances kainate-induced neurotoxicity.Koeller, H., Ross, E. and Glickstein, S.Neurobiology of Disease 31: 230-241, 2008. 
  • Notch-1 signalling is activated in brain arterivenous malformations in humans.ZhuGe, Q., Zhong, M., Zheng, W., Yang, G., Mao, X., Xie, L., Chen, G., Chen, Y., Lawton, M.T., Young, W.L., Greenberg, D.A. and Jin, K.Brain - A Journal of Neurology 132: 3231-3241. 
  • Human-specific transcriptional regulation of CNS development genes by FOXP2.Konopka, G., Boman, J., Winden, K., Coppola, G., Jonsson, Z., Gao, F., Peng, S., Preuss, T. Wohlschlegel, J. and Geschwind, D.H.Nature 462: 213-218, 2009 
  • Anatomical characterization of human fetal brain development with diffusion tensor magnetic resonance imaging.Huang, H., Xue, R., Zhang, J., Ren, T., Richards, L.J., Yarowsky, P., Miller, M.I. and Mori, S.J. Neuroscience 29(13): 4263-4273, 2009. 
  • Anatomical Characterization of Human Fetal Brain Development with Diffusion Tensor Magnetic Resonance ImagingHuang, H., Xue, R., Zhang, J., Ren, T., Richards, L.J., Yarowsky, P., Miller, M.I., Mori, S.Journal of Neuroscience 29(13): 4263-4273, 2009 
  • Age-dependent changes in the structure, composition and 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 gene expression in human brain.Gibbs, R., van der Brug, M., Hernandez, D, Traynor, B., Nalls, M., Lai, S., Arepalli, S., Dillman, A., Rafferty, I., Troncoso, J., Johnson, R., Zielke, H.R., Ferrucci, L., Longo, D., Cookson, M., Singleton, A.PLOS Genetics, 2010, 6(5): e1000952. 
  • Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain.Gibbs, R., van der Brug, M., Hernandez, D, Traynor, B., Nalls, M., Lai, S., Arepalli, S., Dillman, A., Rafferty, I., Troncoso, J., Johnson, R., Zielke, H.R., Ferrucci, L., Longo, D., Cookson, M., and Singleton, A.PLOS Genetics, 2010, 6(5): e1000952. 
  • Sex-specific effects of scavenger receptor class B type 1 (SR-BI) gene variants on serum lipid levels and hepatic gene expression.Chiba-Falek, O., Nichols, M., Suchindran, S., Guyton, J., Ginsburg, G., Barrett-Connor, E. and McCarthy, J.BMC Med Gene 11:9, 2010. 
  • Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain.Gibbs, R., van der Brug, M., Hernandez, D, Traynor, B., Nalls, M., Lai, S., Arepalli, S., Dillman, A., Rafferty, I., Troncoso, J., Johnson, R., Zielke, H.R., Ferrucci, L., Longo, D., Cookson, M. and Singleton, A.PLOS Genetics, 2010, 6(5): e1000952. 
  • SCN5A allelic expression imbalance in Afican-Americans heterozygous for the common variant p.Ser1103Tyr.Killen S., Kunic, J., WAng, L., Lewis, A., Levy, B., Ackerman, M. and George, A.BMC Med. gen. 11:74-78, 2010. 
  • A role for Wnt signaling genes in the pathogenesis of impaired lung function in asthmaSharma, S., Tantisira, K., Carey, V., Murphy, A., Lasky-su, J., Celedon, J., Lazrus, R., Klanderman, B., Rogers, A., Soto-Quiros, M., Avila, L., Mariani, T., Gaedigk, R., Leeder, S., Torday, J., Warburton, D., Raby, B., Weiss, S.Am J Respir Crit Care Med 181: 328-336, 2010. 
  • Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain.Gibbs, R., van der Brug, M., Hernandez, D, Traynor, B., Nalls, M., Lai, S., Arepalli, S., Dillman, A., Rafferty, I., Troncoso, J., Johnson, R., Zielke, H.R., Ferrucci, L., Longo, D., Cookson, M. and Singleton, A.PLOS Genetics, 2010, 6(5): e1000952, 2010. 
  • miR-802 regulates human angiotensin II type 1 receptor expression in intestinal epithelial C2BBe1 cellsSansom, S., Nuovo, G., Martin, M., Kotha, S., Parinandi, N., Elton, T.Am J Physiol Gastrointest Liver Physiol. 299: G632-G642, 2010. 
  • Novel neuronal proteolipid protein isoforms encoded by the human myelin proteolipid protein 1 gene.Sarret, C., Combes, P., Micheau, P., Gelot, A., Boespflug-Tanguy, O. and Vaurs-Barriere, C.Neuroscience 166: 522-538, 2010. 
  • Transcriptomic analysis of human lung developmentKho, A., Bhattacharya, S., Tantisira, K., Carey, V., Gaedigk, R., Leeder, S., Kohane, I., Weiss, S., Mariani, T.Am J Respir Crit Care Med 181:54-63. 2010. 
  • Spatiotemportal transcriptome of the human brainKang et al.Nature 478:483-489, 2011. 
  • Temporal dynamics and genetic control of transcription in the human prefrontal cortex.Colantuoni, C., Lipska, B., Ye, T., Hyde, T., Tao, R., Leek, J., Colantuoni, E., Elkahloun, A., Herman, M., Weinberger, D. and Kleinman, J.Nature 478: 519-524, 2011 
  • Betaine-homocysteine methyltransferase: Human liver genotype-phenotype correlationFeng, Q., Kalari, K., Fridley, B., Jenkins, G., Ji, Y., Abo, R., Hebbring, S., Zhang, J., Nye, M., Leeder S., Weinshilboum, R.Molecular Genetics and Metabolism 102:126-133, 2011. 
  • Prion Protein Expression and Functional Importance in Skeletal Muscle.Smith, J., Moylan, J., Hardin, B., Chambers, M., Estus, S., Telling, G. and Reid, M.Antioxid Redox Signal 15: 2465-2475, 2011. 
  • DNA Methylation Signatures in Development and Aging of the Human Prefrontal CortexNumata, S., Ye, T., Hyde, T., Guitart-Navarro, X., Tao, R., Wininger, M., Colantuoni, C., Weingerger, D., Kleinman, J. and Lipska, B.Am J of Hum Gen 90: 260-272, 2012 
  • Coupling Diffusion Imaging with Histological and Gene Expression Analysis to Examine the Dynamics of Cortical Areas acress the Fetal Period of Human Brain Development.Huang, H., Jeon, T., Sedmak, G., Pletikos, M., Vasung, L., Xu, X., Yarowsky, P., Richards, L., Kostovic, I., Sestan, N. and Mori, S.Cerebral Cortex, 2012 
  • The Allen Human Brain Atlas: Comprehensive gene expression mapping of the human brain.Shen, E., Overly, C. and Jones, A.Trends in Neurosciences 35: 12, 2012 
  • Prolonged myelination in human neocortical evolution.Miller, D.J., Duka, T., Stimpson, C.D., Schapiro, S.J., Baze, W.B., McArthur, M.J., Fobbs, A.J., Sousa, A.M.M., Sestan, N., Wildman, D., Lipovich, L., Kuzawa, C.W., Hof, P.R. and Sherwood, C.C.PNAS 109: 16480-16485, 2012 
  • RBFOX1 regulates both splicing and transcriptional networks in human neuronal development.Fogel, B.L., Wexler, E., Wahnich, A.,, Friedrich, T., Vijayendran, C., Gao, F., Parikshak, N., Konopka, G. and Geschwind, D.Human Molecular Genetics 21: 4171-4186, 2012 
  • Divergent Whole-Genome Methylation Maps of Human and Chimpanzee Brains Reveal Epigenetic Basis of Human Regulatory Evolution.Zeng, J., Konopka, G., Hunt, B., Preuss, T., Geschwind, D.H. and Yi, S.The American J of Human Genetics 91: 455-465, 2012 
  • Von Willebrand Factor permeates small vessels in CADASIL and inhibits smooth muscle gene expression.Zhang, X., Meng, H., Blaivas, M., et alTransl Stroke Res 3: 138-145, 2012 
  • The role of CYP3A4 mRNA transcript with shortened 3'-untranslated region in hepatocyte differentiation, liver development, and response to drug induction.Li, D., Gaedigk, R., hart, S.N., Leeder, J.S., and Zhong, X-b.Molec. Pharmacol. 81:86-96, 2012. 
  • Expression of Organic Anion Transporter 2 in the Human Kidney and Its Potential Role in the Tubular Secretion of Guaninie-Contaiing Antiviral Drugs.Cheng, Y., Vapurcuyan, A., Shahidullah, M., Aleksunes, L. and Pelis, R.Drug Metab Dispos. 40:617-624, 2012. 
  • Mucosal antibody responses are directed by viral burden in children with acute influenza infection.He, Y., Abid, A., Fisher, R., Eller, N., Mikolajczyk, M., Welliver R., Bonner, A., Scott, D. and Reed, J.Influenza and Other Respiratory Viruses March 8:1750-2659, 2012. 
  • Human-Specific Transcriptional Networks in the Brain.Konopka, G., Friedrich, T., Davis-Turak, J., Winden, K., Oldham, M.C., Gao, F., Chen, L., Wang, G., Luo, R., Preuss, T. and Geschwind, D.H.Neuron 75: 601-617, 2012 
  • Evolution of the human-specific microRNA miR-941.Hui, H.Y., He, L., Forminykh, K., Yan, Z., et al.Nature Communications 3:1145, 2012. 
  • Bidirectional encroachment of collagen into tthe tunica media in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Don, H., Blaivas, M and Wang, M.Brain Res 1456: 64-71, 2012 
  • New NBIA subtype: Genetic, clinical, pathologic, and readiographic features of MPAN.Hogarth, P., Gregory, A., Kruer, M., Sanford, L., Wagoneer, W. et al.Neurology 80: 268-275, 2013. 
  • Human-specific transcriptional networks in the brain.Konopka, G., Friedrich, T., Davis-Turak, J., Winden, K., Oldham, M., Gao, F., Chen, L., Wang, G., Luo, R., Preuss, T. and Geschwind, D.Neuron 75: 601-617, 2012 
  • Prenatal and postnatal expression of glutathione transferase 1 in human liver and the roles of haplotype and subject age in detemining activity with dichloroacetate.Li, W., Gu, Y., James, M.O., Hines, R.N., Simpson, P., Langaee, T., and Stacpoole, P.W.Aspect Drug Metabolism and Disposition 40: 232-239, 2012. 
  • Genome-wide meta-analysis identifies new susceptibility loci for migraine.Anttila, V., Winsvold, B.S., Gormley, P., Kurth, T., Bettella, F., McMahon, G., et al.Nature Genetics 45(8):912-913, 2013. 
  • Widespread splicing changes in huamn brain development and agingMazin, P., Xiong, J., Liu, X., Yan, Z., Zhang, X., Li, M., He, L., Somel, M., Yuan, Y., Chen, Y.P., Li, N., Hu, Y., Fu, N., Ning, Z., Zeng, R., Yang, H., Chen, W., Gelfand, M. and Khaitovich, P.Molecular Systems Biology 9: 633, 2013 
  • Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression of QTL studies.Ramasamy, A., Trabzuni, D., Gibbs, J.R., et al.Nucleic Acid Res. 41(7):e88, 2013. 
  • Loss of NG2+ glia drives develoment of depressive behavior.Birey, F., Kloc, M., Christoffel,D.J., Chen, T.,Wilson, M., Frohman, M.A., Robinson, J.K., Russo, S.J., Maffei, A. and Aguirre, A.Submitted 
  • Evolution of human longevity uncoupled from caloric restriction mechanismsZhao, G., Guo, S., Somel, M. and Khaitovich, P.PLOS 9(1): e84117, 2014 
  • Decreased hippocampal volume and increased anxiety in a transgenic mouse model expressing the human CYP2C19 gene.Persson, A., Sim, SC., Onishchenko, N., Schulte, G., and Ingelman-Sundberg, M.Molecular Psychiatry 19: 733-741, 2014. 
  • Gaining insight of fetal brain development with diffusion MRI and histology.Huang, H. and Vasung, L.International Journal of Developmental Neuroscience 
  • Chloride and other anions inhibit dichloroacetate-induced inactivation of human liver GSTZ1 in a haplotype-dependent manner.Zhong, G., Li, W., Langaee, T., Stacpoole, P.W., and James, M.O.Chemico-Biological Interactions 215: 33-39, 2014. 
  • Exceptional evolutionary divergence of human muscle and brain metabolomes parrallels human cognitive and physical uniquenessBoze, K., Wei, Yl, Liu, Z. et al.PLOS 12(5) e1001871. 2014. 
  • Developmental Studies - Interspecies Comparison
  • Analysis of human and rodent beta 3-adrenergic receptor messenger ribonucleic acids.Granneman, J.G. and Lahners, K.N.Endocrinology 135:1025-1031, 1994. 
  • Fluoro jade stains early and reactive Aatroglia in the primate cerebral cortex.Colombo, J. and Puissant, V.J. Histochem. Cytochem. 50(8): 1135-1137, 2002. 
  • Conservation of the developmentally regulated dendritic localization of a purkinje cell-specific mRNA that encodes a G-protein modulator: comparison of rodent and human Pcp(L7) gene 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 in the adult rat, mouse and human brain.Galter, D., Carmine, A., Beurvenich, S., Duester, G. and Olson, L.Eur. J. Biochem. 270: 1316-1326, 2003. 
  • Elevated gene expression levels distinguish human from non-human primate brains.Caceres, M., Lachuer, J., Zapala, M., Redmond, J., Kudo, L., Geschwind, D., Lockhart, D., Preuss, T. and Barlow, C.PNAS, 100: 13030-13035, 2003. 
  • Chromosomal rearrangements and the genomic distribution of gene-expression devergence in humans and chimpanzees.Marques-Bonet, T., Caceres, M., Bertranpetit, J., Preuss, T. Thomas, J. and Navarro, A.Trends in Genetics: 20: 524-528, 2004. 
  • Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction.Teramitsu, I., Kudo, L.C., London, S.E., Geschwind, D.H. and White, S.A.J. Neuroscience 24: 3152-3163, 2004. 
  • Expression of estvogen receptor alpha exon-deleted MRNA variants in the human and non-human primate frontal cortex.Perlman, W., Matsumoto, M., Beltaifa, S., Hyde, T., Saunders, R., Webster, M., Rubinow, D., Kleinman, J. and Weickert, C.Neuroscience, 134: 81-95, 2005. 
  • NrCAM in addiction vulnerability: positional cloning, drug-regulation, haplotype-specific expression and altered drug reward in knockout mice.Ishiguro, H., Liu, Q., Gong, J., Hall, F., Ujike, H., Morales, M., Sakurai, T., Grumet, M. and Uhl, G.Neuropsychopharmacology 31(3):572-84, 2006. 
  • Comparative analyses of genomic imprinting and CpG island-methylation in mouse Murr1 and human MURR1 loci revealed a putative imprinting control region in mice.Zang, Z., Joh K., Yatsuki, H., Wang, W., Arai, Y., Soejima, H., Higashimoto, K. Iwasaka, T. and Mukai, T.Gene 366: 77-86, 2006. 
  • Global analysis of alternative splicing differences between humans and chimpanzees.Calarco, J., Xing, Y., Caceres, M., Clarco, J., Xiao, X., Pan, Q., Lee, C., Preuss, T. and Blencowe, B.Genes & Dev 21: 2963-2975, 2007. 
  • Chondroitinase ABC improves basic and skilled locomotion in spinal cord injured cats.Tester, N. and Howland, D.Experimental Neurology 209: 483-496, 2008. 
  • MicroRNA, mRNA, and protein expression link development and aging in human and macaque brainSomel, M., Guo, S., Fu, N., Yan, Z., Hu, H., Ying, X., Yuan, Y., Ning, Z., Hu, Y., Menzel, C., Hu, H., Lachmann, M., Zeng, R., Chen, W., Kaitovich, P.Genome Research 20: 1207-1218, 2010. 
  • Comprehensive survey of human brain microRNA by deep sequencingShao, N., Hu, H., Yan, Z., Hu, H., Menzel, C., Li, N., Chen, W., KhaitovichBMC Genomics 11: 409, 2010. 
  • Intergenic and repeat transcription in human, chimpanzee and macaque brains measured by RNA-SeqXu, A., He, L., Li, Z., Xu, Y., Li, M., Fu, X., Yan, Z., Yuan, Y., Menzel, C., Li, N., Somel, M., Hu, H., Chen, W., Paabo, S., Khaitovich, P.PLoS Comput Biol 6(7): e1000843. 
  • The von Economo neurons in frontoinsular and anterior cingulate cortex in great apes and humansAllman, J., Tetreault, N., Hakeem, A., Manaye, K., Semendeferi, K., Erwin, J., Park, S., Goubert, V., Hof, P.Brain Struct Funct 214: 495-517, 2010. 
  • Rapid metabolic evolution in human prefrontal cortexFu, X., Giavalisco, P., Liu, X., Catchpole, G., Fu, N., Ning, Z., Guo, S., Yan, Z., Somel, M., Paabo, M., Zeng, R., Willmitzer, L., Khaitovich, P.PNAS 108:6181-6186, 2011. 
  • Extension of cortical synaptic development distinguishes humans from chimpanzees and macaquesLiu, X., Somel, M., Tang, L., Yan, Z., Jiang, X., Guo, S., Yuan, Y., He, L., Oleksiak, A., Zhang, Y., Li, N., Hu, Y., Chen, W., Qiu, Z., Paabo, S. and KhGenome Research, 2012. 
  • Foxp2 mediates sex differences in ultrasonic vocalizationby rat pups and directs order of Maternal retrieval.Bowers, J.M., Perez-Pouchoulen, M., Edwards, N..S. and McCarthy, M.M.J.Neuroscience 33:3276-3283, 2013. 
  • Exceptional evolutionary divergence of human muscle and brain 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 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 Gage, F.Nature, 411:42-43, 2001. 
  • Does microwaving enhance the Golgi methods? A quantitative analysis of disparate staining patterns in the cerebral cortex.Weng, S., Zhang, H. and Hutsler, J.J. Neurosci. Methods, 124: 145-155, 2003. 
  • High throughput imaging of brain gene expression.Brown, V.M., Ossadtchi, A., Khan,A.H., Cherry, S.R., Leahy, R.M. and Smith, D.J.Genome Research 12:244-254 2002. 
  • Isolation and characterization of neural progenitor cells from post-mortem human cortex.Schwartz, P., Bryant, P., Fuja, T., Su, H., O'Dowd, D. and 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 organs.Son, C.G., Bilke, S., Davis, S., Greer, B.T., Wei, J.S., 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 stem and cerebellum.Friedland, D., Los, J. and Ryugo, D.J. Neurosci. Methods 150:90-95, 2006. 
  • Measurement of the dynamic bulk and shear response of soft human tissues.Saraf, H., Ramesh, K., Lennon, A., Merkle, A. and Roberts, J.Experimental Mechanics 47:439-449, 2007. 
  • Mechanical properties of soft human tissues under dynamic loading.Saraf, H., Ramesh, K., Lennon, A., Merkle, A. and Roberts, J.J. Biomechanics 40: 1960-1967, 2007. 
  • 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. 
  • Estimating accuracy of RNA-Seq and microarrays with proteomicsFu, X., Fu, N., Guo, S., Yan, Z., Xu, Y., Hu, H., Menzel, C., Chen, W., Li, Y., Zeng, R., Khaitovich, P.BMC Genomics 10: 161, 2009. 
  • Platform dependence of inferenceon gene-wise and gene-set involvement in human lung developmentDu, R., Tantisira, K., Carey, V., Bhattachary, S., Metje, S., Kho, A., Klandeerman, B., Gaedigk, R., Lazarus, R., Mariani, T., Leeder, S., Weiss, S.BMC Bioinformatics 10: 189, 2009 doi:10.1186/1471-2105-10-189 
  • An anatomically comprehensive atlas of the adult human brain transcriptome.Evrony, G.D. and 65 other authors.Nature 489:391-399, 2012. 
  • An anatomically comprehensive atlas of the adult human brain transcriptome.Hawrylycz, M.J., et al.Nature 489:391-399, 2012. 
  • Maternal Hyperflycenia Activates an ASK1-FoxO3a-Caspase 8 Pathway That Leads to Embryonic Neural Tube Defects.Yang, P., Li, X., Xu, C., Exkert, R., Reece, A., Zielke, H. and Wang, F.Science Signaling 6 (290), ra74, 2013 
  • Measuring iron in the brain using quantitative susceptibility mapping and X-ray fluorescence imaging.NeuroImage 78:68-74, 2013. 
  • Diabetes
  • The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes.Pugliese, A., Zeller, M., Fernandez, A., Zalcberg, L., Bartlett, R., Ricordi, C., Pietropaolo, M. Eisenbarth, G., Bennett, S. and Patel, D.Nature Genet. 15: 293-297, 1997. 
  • Differential splicing of the IA-2 mRNA in pancreas and lymphoid organs as a permissive genetic mechanism for autoimmunity against the IA-2 Type 1 diabetes autoantigen.Diez, J., Park, Y., Zeller, M., Brown, D., Garza, D., Ricordi, C., Hutton, J., Eisenbarth, G. and Pugliese, A.Diabetes 50: 895-900, 2001. 
  • Self-antigen-presenting cells expressing diabetes-associated autoantigens exist in both thymus and peripheral lymphoid organs.Pugliese, A., Brown, D., Garza, D., Murchison, D., Zeller, M., Redondo, M, Diez, J., Eisenbarth, G., Patel, D. and Ricordi, C.J. Clin. Invest. 107: 555-564, 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 islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP), results in differential expression in human thymus and spleen compared with pancreas.Dogra, R., Vaidyanatham, P., Prabakar, K., Marshall, K., Hutton, J. and Pugliese, A.Diabetologia, 49: 953-957, 2006. 
  • Hyperactivation of Akt/mTOR and deficiency in tuberin increased the oxidative DNA damage in kidney cancer patients with diabetesHabib, S.L. and Liang, S.Oncotarget 5: 2542-2550, 2014 
  • Down Syndrome
  • Presence of soluble amyloid ß-peptide precedes amyloid plaque formation in Down's syndrome.Teller, J., Russo, C., DeBusk, L., Angelini, G., Zaccheo, D., Dagna-Bricarelli, F., Scartezzini, P., Bertolini, S., Mann, D., Tabaton, M. and Gambetti, P.Nature Medicine 2: 93-95, 1996. 
  • The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporarily over expressed in cerebrum of individuals with Down syndrome.Brodsky, G., Barnes, T., Bleskan, J., Becker, L., Cox, M. and Patterson, D.Hum. Mol. Gen. 12: 2043-2050, 1997. 
  • Phosopholipid composition and levels are altered in Down syndrome 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 plaques in Down syndrome.Gyure, K.A., Durham, R., Stewart, W.F., Smialek, J.E., Troncoso, J.C.Arch. Pathol. Lab. Med. 125:489-492, 2001. 
  • Parallel compensatory and pathological events associated with Tau pathology in middle aged individuals with Down Syndrome.Head, E., Lott, I., Hof, P., Bouras, C., Su, J., Kim, R., Haier, R and Cotman, C.J. Neuropath. Exp. Neurol. 62: 917-926, 2003. 
  • The Drosophila homolog of Down's syndrome critical region 1 gene regulate learning: Implications for mental retardation.Chang, K., Shi, Y. and Min, K.PNAS 100: 15794-15799, 2003. 
  • Global up-regulation of chromosome 21 gene expression in the 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 human Down syndrome brain and heart.Mao, R., Wang, x., Spitznagel, E., Frelin, L., Ting, J., Ding, 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 brain and heart.Mao, R., Wang, X., Spitznagel, E.L., Frelin, L.P., Kim, J., Downey, T.J. and Pevsner, J.Genome Biology 6:R107, 2005. 
  • BACE2, as a novel APP theta-secretase, is not responsible for the pathogenesis of Alzheimer's disease in Down syndrome.Sun, X., He, G. and Song, W.FASEB Journal, 20:1369-1376, 2006. 
  • Evidence against the overexpresion of APP in Down syndrome.Argellati, F., Massone, S., d"Abramo, c., Marinari, U., Pronzato, M., Domenicotti, C. and Riccaiarelli, R.Life 58: 103-106, 2006. 
  • Increased BACE1 maturation contributs to the pathogenesis of Alzheimer's disease in Down syndrome.Sun, X., Tong, X., Qing, H., Chen, C-H., and Song, W.FASEB Journal 20:1361-1368, 2006. 
  • The cholestrol transporter ABCG1 modulates the proteolytic processing of amyloid precursor protein.Tansley, G., Burgess, B., Bryan, M., Su, Y., Hirsch-Reinshagen, V., Pearce, J., Chan, J., Wilkenson, A., Evans, J., Naus, K., McIsaac, S., Bromley, K., Song, W., Yang, H., Wang, N., Mattos, R. and Wellington, C.J. of Lipid Research. 48:1022-1034, 2007. 
  • Alpha- and beta-secretase activity as a function of age and beta-amyloid in Down Syndrome and normal brain.Nistor, M., Don, M., Parekh, M., Sarsoza, F., Goodus, M., Lopez, G., Kawas, C., Levernez, J., Doran, E., Lott, I., Hill, M. and Head, E.Neurobiology of Aging 28:1493-1506, 2007. 
  • Trisomy-driven overexpression of DYRK1A kinase in the brain of subjects with Down Syndrome.Dowjat, W., Adayev, T., Kuchna, I., Nowicki, K., Palminiello, E., Hwang, Y and Wegiel, J.Neuroscience Letters 413:77-81, 2007. 
  • Alpha- and beta-secretase activity as a function of age and beta-amyloid in Down syndrome and normal brain.Nistor, M., Don, M., Parekh, M., Sarsoza, F., Goodus, M., Lopez, G., Kawas, C., Levernez, J., doran, E., Lott, I., Hill, M. and Head, E.Neurobiol. Aging 28:1493-1506, 2007. 
  • Human chromosome 21-derived miRNAs are overexpressed in down syndrome brains and hearts.Kuhn, D., Nuovo, G., Martin, M., Malana, G., Pleister, A., Jiang, J., Schmittgen, T., Terry, A., Gardiner, K., Head, E., Feldman, D. and Elton, T.BBRC 370:473-477, 2008. 
  • Human chromosome 21-derived miRNAs are overexpressed in down syndrome brains and hearts.Kuhn, D., Nuovo, G., Martin, M., Malana, G., Pleister, A., Jiang, J., Schmittgen, T., Terry, A., Gardiner, K., Head, E., Feldman, D. and Elton, T.BBRC 370: 473-477, 2008. 
  • Increased levels of carbonic anhydrase II in the developing Down syndrome brain.Palminiello, S.,Kida, E., Kaur, K., Walus, M., Wisniewski, K., Wierzba-Bobrowicz, Rabe, A., Albertini, G. and Golabek, A.Brain Research 1190: 193-205, 2008. 
  • Chromosome 21-derived miRNAs provide an etiological basis for aberrant protein expresion in human down syndrome brains.Kuhn, D., Nuovo, G., Terry, A., Martin, M., Malana, G., Sansom, S, Pleister, A., Beck, W., Gardiner, K., Head, E., Lott, I., Elton, T. and Feldman, D.J. Biol. Chem. 285:1529-1543, 2010. 
  • Upregulation of phosphorylated aB-crystallin in the brain of children and young adults with Down Syndrome.Palminiello, S., Jarzabek, K., Kaur, K., Walus, M., Rabe, A., Albertini, G., Golabek, A. and Kida, E.Brain Research 1268: 162-173, 2009. 
  • Chromosome 21-derived microRNAs provide an etiological basis for aberrant protein expression in human down syndrome brains. RETRACTEDKuhn,D.E., Nuovo, G.J., Terry, Jr., A.V.T., Malana, G.E., Sansom, S.E., Pleister, A.P., Beck, W.D., Head, E., Feldman,D.S., and Elton,T.S.J. Biol. Chem. 285:1529-1543, 2010. 
  • Molecular Chaperone aB-Crystallin Is Expressed in the Human Fetal Telencephalon at Midgestation by a Subset of Progenitor CellsKida, E., Wierzba-Bobrowicz, T., Palminiello, S., Kaur, K., Jarzabek, K., Walus, M., Albertini, G., Golabek, A.Journal of Neuropathology and Experimental Neurology 69:745-759, 2010. 
  • Link between DYRK1A overexpression and several-fold enhancement of neurofibillary degeneration with 3-repeat Tau protein in Down SyndromeWeigel, J., Kaczarski, W., Barua, M., Kuchna, I. et al.J. Neuropathol Exp Neurol 70:36-50, 2011. 
  • Form of dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A nonnphosphorylated at tyrosine 145 and 147 is enriched int he nuclei of astroglial cells, adult hippocampal progenitors, and some cholinergic axon terminals.Kida, E., Walus, M., Jarzabek, K., Palminiello, S., Albertini, G., Rabe, A., Hwang, Y. and Golabek, A.Neuroscience 195:112-127, 2011. 
  • The Link Between DYRK1A Overexpression and Several-fold Enhancement of Neurofibrillary Degeneration with 3-Repeat Tau Protein in Down Syndrome.Wegiel, J., Kaczmarski, W., Barua, M., et alJ Neuropath ol Exp Neurol 70: 36-50, 2011. 
  • Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulationg glutamate receptor recycling in Down's syndrome.Wang, X., et al. 
  • Developmental patterns of DR6 in normal human hippocampus and in down syndromeIyer, A., van Scheppingen, J., Anink, J., Milenkovic, I., Kovacs, G. and Aronica, E.Journal of Neurodevelopmental Disorders 5:10, 2013. 
  • Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulationg glutamate receptor recycling in Down's syndrome.Wang, X. et al.Nature Medicine 19:473-480, 2013. 
  • Redox proteomics analysis of HNE-modified proteins in Down syndrome brain: clues for understanding the development of Alzheimer's disease.DiDomenico, F., Pupo, G., Tramutola, A., Giorgi, Schinina, M.E., Coccia, R., Head, E. and Butterfield, D.A.Free Radical Biology and Medicine In Press 
  • Analysis of mtDNA, miR-155 and BACH expression in hearts from donors with and without down syndrome.Hefti, E., Quinones-Lombrana, A., Redzematovic, A., Hui, J. and Blanco, J.G.Mitochondrial DNA, Early Online: 1-8. 
  • Interindividual variability in the cardiac expression of anthracycline reductases in donors with and without down syndromeQuinones-Lombrana, A., Ferguson, D., Hageman Blair, R., Kalabus, J.L., Redzematovic, A. and Blanco, J. G.Pharm Res, 2014. 
  • Metabotrophic glutamate receptor 5 in down's syndrome hippocampus during development: Increased expression in astrocytesIyer, A.M., van Scheppingen, J., Milenkovic, I., Anink, J.J., Lim, D., Genazzani, A.A., Adle-Biassette, H., Kovacs, G.G., and Aronica, E.Current Alzheimer Research 11(7), 2014. 
  • Neuropathological role of PI3K/Akt/mTOR axis in Down syndrome brain.Perluigi, M., Pupo, G., Tramutola, A., Cini,C., Coccia,R., Barone, E., Head, E., Butterfield. D.A. and Domenico, F.BBA 1842:1144-1153, 2014. 
  • Dravet syndrome
  • Correlations in timing of sodium channel expression,epilepsy, and sudden death in Dravet syndrome.Cheah, C.S., Westenbroek, R.E., Roden, W.H., Kalume,F., Oakley,J.C., Jansen,L.A., and Catterall,W.A.Channels 7:468-472, 2013. 
  • mTOR Hyperactivation in down syndrome hippocampus appears early during developmentIyer, A.M., van Scheppingen, J., Milenkovic, I., Anink, J.J., 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 in primary adult-onset dystonia.Becker, G., Berg, D., Rausch, W.D., Lange, H.K., Riederer, P. and Reiners, K.Ann. Neurol. 46:260-263, 1999. 
  • Dopamine transmission in DYT1 dystonia: A biochemical and autoradiographical study.Augood, S.J., Hollingsworth, Z., Albers, D.S., Yang, L., Leung, 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 juvenile-onset dystonia.Gearing M., Juncos, J., Procaccio, V., Gutekunst, C.A., Marine, E., Gyure, K.A., Ono S., Santoianni R., Krawieki, N.S., Wallace D.C., and Wainer, BH.Ann. Neurol. 52:465-476, 2002. 
  • Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain.Augood, S., Keller-McGandy, C., Siriani, A., Hewett, J. Ramesh, V., Sapp, E., DeFiglia, M., Breakefield, X. and Standaert, D.Brain Research 986: 12-21, 2003. 
  • TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion.Rostasy, K., Augood, S., Hewett, J., Leung, J., Sasaki, H., Ozelius, L., Ramesh, V., Standaert, D., Breakefield, X. and 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, 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 transcription factors.Armata, I., Ananthanarayanan, M., Balasubramaniyan, N. and Shashidharan, P.J. Neurochem. 106: 1052-1065, 2008. 
  • Sequence features associated with microRNA strand selection in humans and fliesHu, H., Yan, Z., Xu, Y., Hu, H., Menzel, C., Zhou, Y., Chen, W., Khaitovich, P.BMC Genomics 10: 413, 2009. 
  • Neuropathology of cervical dystoniaPrudente, C.N., Pardo, C.A., Xiao, J., Hanfelt, J., Hess, E.J., 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 onset dystonia-parkinsonism cases with PLA2G6 mutations.Paisan-Ruiz, C., Li, A., Schneider, S.A., Holton, J.C., Johnson, R., Kidd, D., Chataway, J., Phatia, K.P., Lees, A.J., Hardy,J., Revesz, T. and Houlden, H.Neurobiology of Aging, in press, 2010. 
  • Epigenetic regulation
  • Chromosome 15q11 13 duplication syndrome brain reveals epigeneic alterations in gene expression not predicted from copy number.Hogart, A., Leung, K., Wang, N., Wu, D., Driscoll, J., Vallero, R. Schanen, N and LaSalle, J.J Med Genet 46: 86-93, 2009. 
  • Impaired autophagy in neurons after disinhibition of mammalian target of rapamycin and its contribution to epileptogeneis.McMahon, J., Huang, X., Yang, J., Komatsu, M., Yue, Z., Qian, J., Zhu, X., and Huang, Y.J. Neuroscience 32:15704-15714, 2012. 
  • The human placenta methylome.Schroeder, D., Blair, J., Lott, P., Yu, H., Hong, D., Crary, F., Ashwood, P., Walker, C., Korf, I., Robinson, W. and LaSalle, J.PNAS 110: 6037-6042, 2013 
  • Global epigenomic reconfiguration during mammalian brain development.Lister, R. et al.Science 341:9 August 2013. 
  • Coordinated cell type-specific epigenetic remodeling in prefrontal cortext begins before birth and continues into early adulthoodShulha, H.P., Cheung, I., Guo, Y., Akbarian, S. and Weng, Z.PLoS Genet 9 (4): e1003433. 
  • A cell epigenotype specific model for the correction of brain cellular heterogeneity bias and its application to age, brain regins and major depression.Guintivano, J., Aryee, M.J. and Kaminsky, Z.A.Epigenetics 8:290-302, 2013. 
  • Identification and replication of a combined epigenetic and genetic biomarker predicting suicide and suicidal behaviors.Guintivano, J., et al.In preparation 
  • DNA methylation and expression of KCNQ3 in bipolar disorder.Kaminsky, Z.A. et al. 
  • Epilepsy
  • Elevated corticotropin releasing hormone/corticotropin releasing hormone-R1 expression in postmortem brain obtained from children with generalized epilepsy.Wang, W., Dow, K.E. and Fraser, D.D.Ann. Neurol. 50(3): 404-409, 2001. 
  • "Tectonic" hippocampal malformations in patients with temporal lobe epilepsy.Sloviter, R., Kudrimoti, H., Laxer, K., Barbaro, N., Chan, S., Hirsch, L., Goodman, R. and Pedley, T.Epilepsy Research 59: 123-153, 2004. 
  • Death-associated protein kinase expression in human temporal lobe epilepsy.Henshall, D., Schindler, C., So, N., Lan, J., Meller, R. and Simon, R.Ann. Neurol. 55: 485-494, 2004. 
  • Bim regulation may determine hippocampal vulnerability following injurious seizures and in temporal lobe epilepsy.Shinoda, S., Schindler, C., Meller, R., So., N., Araki, T., Yamamoto, A., Lan, J., Taki, W., Simon, R. and Henshall, D.J. Clin. Invest. 113: 1059-1068, 2004. 
  • Caspase-3 cleavage and nuclear localization of caspase-activated DNase in human temporal lobe epilepsy.Schindler, C., Pearson, E., Bonner, H., So, N., Simon, R., Prehn, J. and Henshall, D.JCBFM 26: 583-589, 2006. 
  • Increased sensitivity of the neuronal nicotinic receptor 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear.Aridon, P., Marini, C., Resta, C., Brilli, E., DeFusco, M., Politi, F., Parrini, E., Manfredi, I., Pisano, T., Pruna, D., Curia, G., Cianchetti, C., Pasqualetti, M., Becchetti, A., Guerrini, R. and Casari, G.Am. J. Hum. Gen. 79: 342-350, 2006. 
  • Endoplasmic reticulum stress and apoptosis signaling in human temporal lobe epilepsy.Yamamoto, A., Murphy, N., Schindler, C., So, N., Stohr, S. Taki, W., Prehn, J. and Henshall, D.J. Neuropath. Exp. Neurol. 65: 217-225, 2006. 
  • Isoform- and subcellular fraction-specific differences in hippocampal 14-3-3 levels following experimentally evoked seizures and in human temporal lobe epilepsy.Schindler, C., Heverin, M. and Henshall, D.J. Neurochem. 99: 561-569, 2006. 
  • Evidence of tumor necrosis factor receptor 1 signaling in human temporal lobe epilepsy.Yamamoto, A., Schindler, C., Murphy, B., Bellver-Estelles, C., So, N., Taki, W., Meller, R., Simon, R. and Henshall, D.Exp. Neurol. 202: 410-420, 2006. 
  • Bcl-w protects hippocampus during experimental status epilepticus.Murphy, B., Dunleavy, M., Shinoda, S., Schindler, C., Meller, R., Bellver-Estesses, C., Hatazaki, S., Dicker, P., Yamamoto, A., 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 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 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 epilepsy and cognitive impairment.Dibbens, L., Tarpey, P., Hynes, K., Bayly,M., Scheffer, I. et al.Nat Genet 40(6): 776-781, 2008. 
  • Silencing micro RNA-134 produces neuroprotective and prolonged seizure-suppreswsive effects.Jimeniz-Mateos, E., Engel, T., Merino-Serrais, P., McKiernan, R., Tanaka, K., Mouri, G., Sano, T., O'Tuathaigh, C., Waddington, J., Prenter, S., Delanty, N., Farrell, M., O'Brien, D., Conroy, R., Stallings, R., DeFelipe, J. and Henshall, D.Nature Medicine 18: 1087-1094, 2012 
  • Reduced Mature MicroRNA Levels in Association with Dicer Loss in Human Temporal Lobe Epilepsy with Hippocampal Sclerosis.McKiernan, R., Jimeniz-Mateos, E., Bray, I., Engel, T., Brennan, G., San, T., Michalak, Z., Moran, C., Delanty, N., Farrell, M., O'Brien, D., Meller, R., Simon, R., Stallings, R. and Henshall, D.PLoS ONE 7: e35921 
  • Increased neocortical expression of the P2X7 receptor after status epilepticus and anticonvulsant effect of P2X7 receptor atagonist A-438079Jimenez-Pacheco, A., Mesuret, G., Sanz-Rodriguez, A., Tanaka, K., Mooney, C., Conroy, R., Miras-Portugal, M.T., Diaz-Hernandez, M., Henshall, D.C. and Engel, T.Epilepsia 54(9): 1551-1561,2013. 
  • CHOP regulates the p53-MDM2 axisw and is required for neuronal survival after seizures.Engel., T., Sanz-Rodriguez, A., Jimenez-Mateos, E., Concannon, C., Jimeniz-Pacheco, A.,Moran, C., Mesuret, G., Petit, E., Delanty, N., Farrell, M., O'Brien, D., Prehn, J., Lucas, J. and Henshall, D.Brain 136: 577-592, 2013 
  • Mitochondrial localizaiton of the Forkhead box class O transcription factor FOXO3a in brain.Caballer-Caballero, A., Engel, T., Martinez-Villarreal, J., Sanz-Rodriguez, A., Chang, P., Dunleavy, M., Mooney, C., Jimeniz-Mateos, E., Schindler, C. and Henshall, D.J Neurochem 124: 749-756, 2013. 
  • Glial localization of antiquitin: implications for 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 to the major mutation associated with familial dysautonomia.Cuajungco, M., Leyne, M., Mull, J., Gill, S., Lu, W., Zagzag, D., 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 patients results in down regulation of genes involved in 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 patients results in down regulation of genes involved in 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 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 tissues: Effect of environmental CO exposure.Vreman, HJ, Wong, RJ, Stevenson, DK, Smialek, JE., Fowler, D, Li, L, and Zielke, HR.Pediatric Research 51:468A(2727), 2002. 
  • Concentration of carbon monoxide (CO) in postmortem human tissues: effect of environmental CO exposure.Vreman, HJ, Wong, RJ, Stevenson, DK, Smialek, JE., Fowler, D, Li, 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., Nelson, A., Kakareka, J., Pohida, T., Li, L., Fowler, D., 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 retardation syndrome.Irwin, S.A., Galvez, R. and Greenough, W.T.Cerebral Cortex 10:1038-1044, 2000. 
  • Synaptic regulation of protein synthesis and the fragile X protein.Greenough, W.T., Kintsova, A.K., Irwin, S.A., Galvez, R., Bates, K.E., and Weiler, I.J.PNAS, 98: 7101-7106, 2001. 
  • A converging-methods approach to Fragile X syndrome.Churchill, J.D., Grossman, A.W., Irwin, S.A., Galvez, R., Klintsova, A.Y., Weiler, I.J. and Greenough, W.T.Developmental Psychobiology 40: 323-328, 2002. 
  • Effects of Fragile X syndrome and an Fmr1 knockout mouse model on forebrain neuronal cell biology.Churchill, J.D., Beckel-Mitchener, A., Weiler, I.J., and Greenough, W.T.Microscopy Research and Technique 57:156:158, 2002. 
  • Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with Fragile-X syndrome: a quantitative examination.Irwin, S.A., Patel, B., Idupulapati, M., Harris, J.B., Crisostomo, R.A., Larsen, B.P., Kooy, F., Willems, P.J., Cras, P. Kozlowski, P.B., Swain, R.A., Weiler, I.J. and Greenough, W.T.Amer. J. Med. Gen. 98:161-167, 2001. 
  • Brain structure and the functions of FMRP. (Chapter in Fragioe XSsyndrome: Diagnosis, Treatment,and Research", 3rd edition)Irwin, S.A., Galvez, R., Weiler, I.J., Beckel-Mitchener, A. and Greenough, W.T.Johns Hopins University Press, 2002. 
  • Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers.Greco, C.M., Hagerman, R.J., Tassone, F., Chudley, A.E., Del 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 Fragile X syndrome.Kogan, C., Boutet, I., Cornish, K., Zangenehpour, S., Mullen, K., Holden, J., Der Kaloustian, V., Andermann, E. and Chaudhuri, A.Brain 127: 591-601, 2004. 
  • Whole genome microarray analysis of gene expression in subjects with fragile X syndrome.Bittel, D., Kibiryeva, N. and Butler, M.Genetics in Medicine 9: 464-472, 2007. 
  • Whole genome microarray analysis of gene expression in subjects with fragile X syndrome.Bittel, D., Kibiyeva, N., and Butler, M.Genetics in Medicine 9: 1-10, 2007. 
  • The role of fragile X mental retardation protein in major mental disordersFatemi, H., Folsom, T.Neuropharmacology 60:1221-1226, 2011. 
  • Activation of the extracellular signal-regulated kinase pathway contributes to the behavioral deficit of fragile x-syndrome.Wang, X., Snape, M., Klann, E., Stone, J., Singh, A., Petersen, R., Castellani, R., Casadesus, G., Smith, M. and Zhu, X.J. Neurochem 121: 672-679, 2012. 
  • Species-dependent posttranscriptional regulation of NOS1 by FMRP in the developing cerebral cortex.Kwan, K.Y. et al.Cell 149:899-911, 2012. 
  • Somatic expansion in mouse and human carriers of fragile X premutation allelesLokanga, R. A., Entezam, A., Kumari, D., Yudkin, D., Qin, M., Beebe Smith, C. and Usdin, K.Human Mutation 34: 157-166, 2013. 
  • FMRP targets distinct mRNA sequence elements to regulate proein expression.Ascano et alNature 2012 
  • Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile mental retardation gene 1 premutation carriers with fragile 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 cell-mediated neurodegeneratation as a possible mechanism involved.Poli, E.F., Zalfa, C., D'Avanzo, F.,Tomanin, R., Carlessi, L., Bossi, M., Nodari, L.R., Binda, E., Marmiroli, P., Scarpa, M., 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 secretion and production of a chemokine (CCL5/RANTES) by astrocytes.Chou. S., Weng, J., Lai, H., Liao, F., Sun, S., Tu, P., Dickson, D. and Chern, Y.J. Neuroscience 28:3277-3290, 2008. 
  • Nuclear translocation of AMP-activated protein kinase a1 potentiates striatal neurodegeneration in Huntington's disease.Chern, Y.J Cell Biol 194: 209-227, 2011. 
  • Striatal neuronal loss correslates iwth clinical motor impairment in Huntington's disease.Guo, Z., Rudow, G., Pletnikova, Ol. Codispoti, K., Orr, B., Crain, B., Duan, W., Margolis, R., Rosenblatt, A., Ross, C. and Troncoso, J.Mov Disord 
  • A critical role of astrocyte-mediated nuclear factor-kB-dependent 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 galactosylsphingosine (Psychosine) and glucosylsphingosine from other glycosphingolipids in pathological tissue samplesLi, Y., Li, S., Buck, W., Haskins, M., Wu, S., Khoo, K., Sidransky, E., Bunnell, B.Neurochem Res 36: 1612-1622, 2011. 
  • Krabbe's Disease
  • Apoptotic positve cells in Krabbe brain and induction of 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 neurodegenerative lysosomal disease.Ribbens, J., Moser, A., Hubbard, W., Bongarzone, E. and Maegawa, G.Mol. Genet. Metab. 2013 
  • Characterization and application of a disease-cell model for a neruodegenerative lysosomal disease.Ribbens, J.J., Moser, A.B., Hubbard, W.C., Bongarzone, E.R. and Maegawa, C.H.B.Molec. Genetics and Metabolism 111:172-183, 2014. 
  • Characterization and application of a disease-cell model for a neruodegenerative lysosomal disease.Ribbens, J.J., Moser, A.B., Hubbard, W.C., Bongarzone, E.R. and 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 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 a Bahamian Genetic Isolate of Laron Syndrome.Baumbach, L., Schiavi, A., Bartlett, R., Perera, E., Day, J., Tapley, S., 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 growth hormone insensitivity (Laron's syndrome).Baumbach, L., Schiavi, A., Bartlett, R., Perera, E., Day, J., Brown, M., Stein, S., Eidson, M., Parks, J. and Cleveland, W.J.Clin. Endo. Metab. 82:444-451, 1997. 
  • Lesch-Nyhan Disease
  • Loss of dopamine phenotype among midbrain neurons in lesch-nyhan disease.Gottle, M., Prudente, C., Fu, R., Sutcliffe, D., Pang, H., Cooper, D., Veledar, E., Glass, J.D., Gearing, M., Visser, J.E., Jinnah, H.A.American Neurological Association 76: 95-107, 2014. 
  • Leukodystrophy
  • Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.Timmons, M., Tsokos, M., Asab, M., Seminara, S., Zirzow, G.. Kaneski, C., Heiss, J., van der Knaap, M., Vanier, M., Schiffmann, R. and Wong, K.,Neurology 67: 2066-2069, 2006. 
  • A novel leukodystrophy with myelin disorganization and hypogonadotropic hypogonadism.Timmons, M., Tsokos, M., Wong, K., Seminara, S., Abu-Asab, M., Kaneski, C., Heiss, J., van der Knaap, M., Vanier, M., France, L. and Schiffmann, R.Neurology 67:2066-2069, 2006. 
  • Leukodystrophy, Metachromatic
  • Metallothioneeins as Dynamic Markers for Brain Disease in Lysosomal DisordersCesani, M., Cavalca, E., Macco, R., Leoncini, G., Terreni, M., et alAnn Neurol 75: 127-137, 2014 
  • Lissencephaly
  • Genotypically defined lissencephalies show distinct pathologies.Mark S. Forman, Waney Squier, William B. Dobyns, and Jeffrey A. GoldenJ. Neuropathol. Exp. Neurol 64(10):847-857, 2005. 
  • Long-chain fatty acid beta oxidation defect
  • A new genetic disorder in mitochondrial fatty acid beta-oxidation, ACAD9 deficiency.He, M., Rutledge, S.L., Kelly, D.R, Palmer, C.A., Murdoch, G., Majumder, N., Nicholls, R.D., Pei, Z., Watkins, P.A., and Vockley, J.Amer. J. Hum. Genetics 81:87-103, 2007. 
  • Mucopolysaccharidosis
  • Accumulation of intracellular amyloid-B peptide (A beta 1-40) in mucopolysaccharidosis brains.Ginsberg, S.D., Galvin, J.E., Lee, V., M-Y., Rorke, L.B., 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 Mucoopolysaccharidosis Brains.Ginsberg, S., Galvin, J., Lee, V., Rorke, L., Dickson, D., Wolfe, 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 cord blood stem cell transplantation.Araya, K., Sakai, N., Mohri, I., Kagitani-Shimono, K., Okinaga, T., Hashii, Y., Ohta, H., Nakamichi, I., Aozasa, K., Taniike, M., 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, D.G., Haller, E., and Sanberg, P.R.BMC Neurology 13:174, 2013. 
  • Multiple Sclerosis
  • Preparation of a monoclonal antibody to citrullinated epitopes: Its characterization and some applications to immunohistochemistry in human brain.A. P. Nicholas and J.N. WalkerGlia 37:328-336, 2002. 
  • Expression of Golli proteins in adult human brain and multiple sclerosis lesions.Filipovic, R., Rakic, S. and Zecevic, N.J. Neuroimm. 127:1-12, 2002. 
  • GRO-a and CXCR2 in the human fetal brain and multiple sclerosis lesions.Flilpovic, R., Jakovcevski, I., and Zecevic, N.Dev. Neurosci. 25:279-290, 2003. 
  • Activation of microglial poly(ADP-ribose)-polymerase-1 by cholesterol breakdown products during neuroinflammation: 7-ketocholesterol release during neuroinflammation: a link between demyelination and neuronal damage.Diestel, A., Aktas, O., Hackel, D., Häke, I., Meier, S, Raine, C., Zipp, F., Nitsch, R. and Ullrich, O.J. Exp.Med. 11: 1729-40, 2003. 
  • CXC chemokine receptors on human oligodendrocytes: implications 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 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 atrophy. Lee, S-T. et al. 
  • Altered expression of miR-202 in cerebellum of multiple-system atrophy.Lee, S., Chu, K., Jung, K., Ban, J., Im, W., Jo, H., Park, J., 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 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 defects in distinct congenital muscular dystrophies.Barresi, R., Michele, D., Kanagawa, M., Harper, H., Dovico, S., Satz, J., Moore, S., Zhang, W., Schachter, H., Dumanski, J., Cohn, R., Nishino, I. and Campbell, K.Nature Medicine 10: 696-705, 2004. 
  • Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy.Mahadevan, M., Yadava, R., Yu, Q., Balijepalli, S., Frenzel-McCardell, C., Bourne, T. and Phillips, L.Nature Genetics 38: 1066-1070, 2006. 
  • RNA toxicity in myotonic muscular dystorphy induces NKX2-5 expression.Yadave, R., Frenzel-McCardell, C., Yu, Q., Srinivasan, V., Tucker, A., Puymirat, J., Thornton, C., Prall, W., Harvery, R., and Mahadevan, M.Nature Genetics 40:61-68, 2008. 
  • Myoclonus Dystonia
  • SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?Ritz, K., van Schaik, B., Jakobs, M., van Kampen, A., Aronica, E., Tijssen, M., Baas, F.European Journal of Human Genetics 19: 438-444, 2011 
  • SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogensis?Ritz, K., van Schaik, B., Jakobs, M., van Kampen, A., Aronica, 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 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 readiographic features of MPAN.Hogarth, P., Gregory, A., Kruer, M., Sanford, L., Wagoneer, W. et 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 subunits in cerebellar tissue from a patient with olivopontocerebellar atrophy.G. Dirson, P. Desjardins, T. Tannenberg, P. Dodd, and R. Butterworth.Metabolic Brain Disease 17: 77-82, 2002. 
  • Novel histopathologic findings in molecularyly-confirmed pantothenate kinase-associated neurodegeneration.Kruer, M., Hiken, M., Gregory, A., Malandrini, A., Clark, D., 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, M.BBA 1842:860-868, 2013. 
  • Neurofibromatosis
  • Ruffling membrane, stress fiber, cell spreading and proliferation abnormalities in human Schwannoma cells.Pelton, P., Sherman, L., Rizvi, T., Marchionni, M., Wood, P., Friedman, R. and Ratner, N.Oncogene 17: 2195-2209, 1998. 
  • Germline Mutations in NF1 Patients With Malignacies.Wu, R., López-Correa, C., Rutkowski, J., Baumbach, L., Glover, T. and Legius, E.Genes, Chromosomes & Cancer 26:376-380, 1999. 
  • Germline mutations in NF1 patients with malignancies.Wu, R., López-Correa, C., Rutkowski, J., Baumbach, Glover, T. and Legius, E.Genes, Chromo. & Cancer, 26:376-380, 1999. 
  • Multiple mechanism of benign tumor formation in Neurofibromatosis Type 1.Rutkowski, J., Wu, K., Gutmann, D., Boyer, P. and Legius, E.Human Mol. Gen. 9:1059-1066, 2000. 
  • Elevated risk for MPNST in NF1 microdeletion patients.Raedt, T., Brems, H., Wolkenstein, P., Vidaud, D., Pilotti, S., 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 cells reveals a secreted form of the RARRES1 protein.Chwen, H-L., Seol, H., Brown, K.J., Gordish-Dressman, H., Hill, 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 in a mouse model of late infantile neuronal ceroid lipofuscinosis.Chang, M., Cooper, J., Sleat, D., Cheng, S., Dodge, J., Passini, 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 Undertermined Significance.Ellis, T.M., Le, P.T., DeVries, G., Stubbs, E., Fisher, M., and Bhoopalam, N.Clinical Immunology 98:301-307, 2001. 
  • Anti-neurofilament antibodies in neuropathy with monoclonal gammopathy of undetermined significance produce experimental motor nerve conduction block.Stubbs, E.B., Lawlor, M.W., Richards, M.P., Siddiqui, K., Fisher, M.A., Bhoopalam, N., and Siegel, G.J.Acta Neuropathologica 105: 109:116, 2003. 
  • Antibodies to L-periaxin in sera patients with peripheral neuropathy produce experimental sensory nerve conduction deficits.Lawlor, M.W., Richards, M. P., DeVries, G.H., Fisher, M.A., and Stubbs, E.BJ. Neurochem. 83:592-600, 2002. 
  • Valosin-containing protein gene mutations: clinical and neuropathological features.Marechal, L., Laquerriere, A., Dumanchin, C., Duyckaerts, C., 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 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight.Cologna, S., Jian, X., Backland, P., Cluzeau, C., Dail, M., Yanjanin, N., Siebel, S., Toth, C., Jun, H., Wassif, C., Yergey, A. and Porter, F.PLoS ONE 7: e47845. 
  • Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.Cologna, S., Cluzeau, C., Yanjanin, N., Blan, P., Dail, M., 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 Disorder Niemann-Pick Type CAlam, M., Getz, M., Yi, S., Kurkewich, J., Safeukui, I. and Haldar, K.J of Biological Chem 289: 8051-8066, 2014 
  • OCD
  • Antineuronal antibodies in OCD: comparisons in children with OCD-only, OCD+chronic tics and OCD+PANDAS.Gause, C., Vernekar, S., Morris, C., Pardo, C., Grados, M., Singer, H.S.J Neuroimmunology 214: 118-124, 2009. 
  • Pain
  • Proenkephalin A gene products activate a new family of sensory neuron-specific GPCRs.Lembo, P.M.C., Grazzini, E., Groblewski, T., O'Donnell, D., Roy, M.-O., Zhang, Jl, Hoffert, C., Cao, J., Schmidt, R., Pelletier, M., Labarre, M., Gosselin, M., Fortin, Y., Banville, D., Shen, S.H., Strom, P., Payza, K., Dray, A., Walker, P. and AhmNature 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, U., Lund, P.E., Meijer, I.A., Meury, L., Mills, T., Moody, A., Morinville, A., Morten, A., O'Donnell, D., Raynoschek, C., 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 Lewy bodies.Smith, M., Zhu, X., Babar, A., Siedlak, S., Yang, Q., Ito, G, Iwatsubo, T., Perry, G. and Chen, S.Submitted, 2007. 
  • Somatic mitochondrial DNA mutations in cortex and substantia nigra in aging and Parkinson's disease.Simon, D.K., Lin, M.T., Zheng, L., Liu, G., Ahn, C.H., Kim, L., 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 proteins and leads to preservation of preteasome function.Tsai, Y., Fishman, P., Thakor, N., and Oyler, G.J. Biol. Chem. 278: 22044-22055, 2003. 
  • Glucocerebrosidase mutations in subjects with parkinsonism.Lwin, A., Orvisky, E., Goker-Alpan, O., LaMarca, M. and Sidransky, E.Molecular Genetics and Metabolism 81: 70-73, 2004. 
  • Flotillin-1 in the substantia nigra of the Parkinson brain and a predominant localization in catecholaminergic nerves in the rat brain.Jackobowitz, D. and Kallarakal, A.Neurotoxicity Research 6: 245-258, 2004. 
  • Gaucher disease: complexity in a "simple" disorder.Sidransky, E.Molecular Genetics and Metabolism 83: 6-15, 2004. 
  • Human brain derived neurotrophic factor (BDNF) genes, splicing patterns and assessments of associations with substance abuse and Parkinson's disease.Liu, Q., Walther, D., Grgon, T., Polesskaya, o, Lesnick, T., Strain K, deAndrade, M., Bower, J., Maraganore, D. and Uhl, G.Am. J. Med. Genet. B Neuropsychaiatr. Genet. 134B:93-103, 2005. 
  • Transcriptional analysis of multiple brain regions in Parkinson's disease supports the involvement of specific protein processing, energy metabolism, and signaling pathways, and suggests novel disease mechanisms.Zhang, Y., James, M., Middleton, F. and Davis, R.Amer. J. Medical Genetics Part B 137B: 5-16, 2005. 
  • Levels of alpha-synuclein (SNCA)-RNA in sporadic parkinson disease patients.Chiba-Falek, O., Lopez, G. and Nussbaum. Mov. Disorder 21:1703-1708, 2006. 
  • LRRK2 in Parkinson's disease and dementia with Lewy bodies.Zhu, X., Babar, A., Siedlak, S., Yang, Q., Ito, G, Iwatsubo, T., Smith, M., Perry, G. and Chen, S.Molecular Neurodegeneration 1: 17, 2006. 
  • Localization of N-methyl-norsalsolinol within rodent and human brain.DeCuypere, M., Kalabokis, V., Hao, R., Schroeder, D., Miller, D and LeDoux, M.J. Neurosci. Res. 86: 2543-2552, 2008. 
  • Leucine-rich repeat kinase 2 colocalizes with a-synuclein in Parkinson's Disease, but not Tau-containing deposits in taupathies.Perry, G., Zhu, X., Babar, A., Siedlak, S., Yang, Q., Ito, G., Iwatsubo, T., Smith, M. and Chen, S.Neurodegen. Dis. 5:222-224, 2008. 
  • Leucine-rich repeat kinase 2 colocalizes with a-synuclein in Parkinson's Disease, but non Tau-containing deposits in tauopathies.Perry, G., Zhu, X., Babar, A., Siedlak, S., Yang, Q., Ito, G., Iwatsubo, T., Smith, M. and Chen, S.Neurodegenerative Dis. 5: 222-224, 2008. 
  • Regional distribution of tetrahydroisoquinoline derivatives in rodent, human, and parkinson's disease brain.DeCuypere, M., Lu, Y., Miller, D. and LeDoux, M.J of Neurochem 107: 1398-1413, 2008. 
  • Genetic regulation of a-synuclein mRNA expression in various human brain tissues.Linnertz, C., Saucier, L., Ge, D., Cronin, K.D., Burke, J.R., Browndyke, J.N., Hulette, C.M., Wels-Bohmer, K.A., Chiba-Falek, O.PLoS ONE 4(10): e7480. 
  • Iron, copper, and zinc distribution of the cerebellum.Popescu, B., Robinson, C., Rajput, A., Rajput, A., Harder, S. and Nichol, H.Cerebellum 8(2): 74-79, 2009. 
  • Mapping metals in Parkinson's and normal brain using rapid-scanning x-ray fluorescence.Popescu, B., George, M., Bergmann, U., Garachtchenko, A., Kelly, M., McCrea, R., Luning, K., Devon, R., George, G., Hanson, A, Harder, S., Chapman, D., Pickering, I. and Nichol, H.Phys Med Biol 54: 651-663, 2009. 
  • The effect of SNCA 3' region on the levels of SNCA-112 splicing variant.McCarthy, J.J., Linnertz, C., Saucier, L., Burke, J.R., Hullette, C.M., Welsh-Bohmer, K.A. and Chiba-Falek, O.Neurogenetics:12, 59-64, 2011. 
  • Peripheral Neuropathy
  • Sensory nerve conduction deficit in experimental monoclonal 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 receptors in the premature brain and their protective role in a rodent model of periventricular leukomalacia.Jantzie, L.L., Talos, D.M., Selip, D.B., An, L., Jackson, M.C., 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 syndrome, and control subjects.Muralidhar, B. and Butler, M.G.Amer. J. Med. Gen. 80:263-265, 1998. 
  • Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities.Muralidhar, B., Marney, A. and Butler, M.G.Genetics in Med. 1:141-145, 1999. 
  • An imprinted, mammalian bicistronic transcript encodes two indepedent proteins.Gray, T., Saitoh, S. and Nicholls, R.Proc. Natl. Acad. Sci. 96: 5616-5621, 1999. 
  • Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control.Lee, Syann and Wevrick, R.Am. J. Hum. Genet., 66: 848-858, 2000. 
  • Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype.Lee, S., Kozlov, S., Hernandez, L., Chamberlain, S., Brannan, C., Stewart, C. and Wevrick, R.Human Molecular Genetics, 9: 1813-1819, 2000. 
  • Small evoluntionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain.de los Santos, T., Schweizer, J., Rees, C.A.and Francke, U.Am. J. Hum. Genet. 67:1067-1082, 2000. 
  • Evidence for the role of PWCR1/HBII-85 C/D box small necleolar 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 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. 
  • The snoRNA HB11-52 regulates alternative splicing of the serotonin receptor 2C.Kishore, S. and Stamm, S.Science, 311: 230-232, 2006. 
  • Genomic analysis of the chromosome 15q11-q13 Prader-Willi region and characterization of transcripts for GoLGA8E and WHCD1L` from the proximal breakpoint region.Jiang, Y., Wauki, K., Liu, Q., Bressler, J., Pan, Y., Kashork, C, Li, H., Shaffer, L. and Beaudet, A.BMC Genomics 9:50, 2008. 
  • Whole genome microarray analysis of gene expression in 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. 
  • Comparison of X chromosomes inactivation patterns in multiple tissues from human females.Bittel, D., Theodoro, M., Kibiryeva, N., Fischer, W., Talebizadeh, Z. and Butler, M.J. Med. Genet 45: 209-212, 2008. 
  • X-Chromosome inactivation patterns in females with Prader-Willi Syndrome.Butler, M., Theodoro, M., Bittel, D., Kulpers, P., Discoll, D. and Talebizadeh, Z.Amer. J. Medical Genetics 143:469-475, 2007. 
  • Ral guanine nucleotide dissociation stimulator (RALGDS), a 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 energy expenditure.Powell, W..T.,Coulson, R.L., Crary, F.K., Wong, S.S., Ach, R.A., 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) 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) 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 and in Rett syndrome.Kaufmann, W.E., Worley, P.F., Taylor, C.V., Bremer, M. and Isakson, P.C.Brain Develop. 19:25-34, 1997. 
  • Abnormalities in neuronal maturation in Rett syndrome neocortex: preliminary molecular correlates.Kaufmann WE, Taylor CV, Hohmann CF, Sanwal IB, Naidu SAdolesc Psychiatry 6 (Suppl 1): 75-77, 1997. 
  • Abnormalities in neuronal maturation in Rett syndrome neocortex: 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. 
  • Development of amino acid receptors in frontal cortex from girls with Rett syndrome.Blue, M.E., Naidu, S. and Johnson, M.Ann. Neurol. 45:541-545, 1999. 
  • Altered cholinergic function in the basal forebrain of girls with Rett syndrome.Wenk, G.L. and Hauss-Wegrzyniak, B.Neuropediatrics 30:125-129, 1999. 
  • Development of amino acid receptors in frontal cortex from girls with Rett syndrome.Blue, M.E., Naidu, S. and Johnston, M.V.Ann. Neurol. 45:541-545, 1999. 
  • Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndrome.Blue, M.E., Naidu, S. and Johnston, M.V.Exper. Neurol. 156:345-352, 1999. 
  • Cortical development in Rett syndrome: molecular, neurochemical, and anatomical aspects.Kaufmann, W.E.Rett Disorder and the Developing Brain, Chapter 4: 85-110, 2005. 
  • Dendritic cytoskeletal protein expression in mental retardation: 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. 
  • Gene expression profiling in postmortem Rett Syndrome brain: differntial gene expression and patient classification.Colantuoni, C., Jeon, O.-H., Hyder, K., Chencik, A., Khimani, A.H., Narayanan, V., Hoffman, E.P., Kaufmann, W.E., Naidu, S. and Pevsner, J.Neurobiology of Disease 8, 847-865, 2001. 
  • Gene expression profiling in postmortem Rett Syndrome brain: differntial gene expression and patient classification.Carlo Colantuoni, Ok-Hee Jeon, Karim Hyder, Alex Chencik, Anis H. Khimani, Vindoh Narayanan, Eric P. Hoffman, Walter E. Kaufmann, Akkubair Naidu, and Jonathan Pevsner.Neurobiology of Disease 8: 847-865, 2001 
  • Gene expression profiling in postmortem Rett syndrome brain: differential gene expression and patient classification.Colantuoni, C., Jeon, O.-H., Hyder, K., Chenchik, A., Khimani, A.H., Narayanan, V., Hoffman, E.P., Kaufmann, W.E., Naidu, S. and Pevsner, J.Neurobiolgy of Disease 8, 847-865, 2001. 
  • Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation.Balmer, D., Goldstine, J., Rao, Y.M., and LaSalle, J.J. Mol. Med. 81: 61-68, 2002. 
  • MeCP2 expression in human neocortex.Kaufmann, W.E., Jarrar, M.H. and MacDonald, S.M.Brain Dev. 24:392, 2002. 
  • Methy-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractions.Aber, K.M., Nori, P., MacDonald, S., Bibat, G., Jarrar, M.H., and Kaufmann, W.E.Neuroscience 116: 77-80, 2003. 
  • MeCP2 expression in human cerebral cortex and lymphoid cells: immunochemical characterization of a novel higher molecular weight form.Jarrar, M., Danko, C., Reddy, S., Lee, Y., Bibat, G. and Kaufmann, W.J. Child Neurol. 18: 675-682, 2003. 
  • X-Chromosome inactivation ratios affect wild-type McEp2 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 a the PWS/AS imprinting center that afects UBE3A expression.Makedonski, K., Abuhatzira, L, Kaufman, Y., Razin, A. and Shemer, R.HMG 14: 1049-1058, 2005. 
  • Inhibitors of differentiation (ID1, ID2, ID3, ID4) genes are 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 REST/CoRest-mediated repression and increases TRKB production.Abuhatzira, L., Makedonski, K., Kaufman, Y., Razin, A. and Shemer, R.Epigenetics 2:4, 1-9, 2007. 
  • MeCP2 deficiency in the brain decreases BDNF levels by REST/CoREST-mediated repression and increases TRKB production.Abuhatzira, L., Makedonski, K., Kaufman, Y, Razin, A. and Shemer, R.Epigenetics 2:4, 214-222, 2007. 
  • MeCP2 involvement in the regulation of neuronal a-tubulin production.Abuhatzira, L., Shemer, R. and Razin, A.HMG 18: 1-9, 2000. 
  • Dendritic spine pathologies in hippocampal pyramidal neurons from Rett snydrome brain and after expression of Rett-associated MECP2 mutations.Chapleau, C., Calfa, G., Lane, M., Albertson, A., Larimore, J., 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 Rett Syndrome.Jain, D., Singh, K., Chirumamilla, S., Bibat, G.M., Blue, M.E., 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 at the PWS/AS imprinting center that affect UBE3A expressionMakedonski, K., Abuhatzira, L., Kaufman, Y., Razin, A. and Shemer, R. H. Mol. Genet. 14: 1049-1058, 2005. 
  • Sandoff Disease
  • Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease.Baek, R.44:197-205, 2009., Martin, D., Cox, N and Seyfried, T.Lipids 44: 197-205, 2009. 
  • Schizophrenia
  • Ultrastructural localization of reelin in the cortex in post-mortem human brain.Roberts, R., Xu, L., Roches, J. and Kirkpatrick, B.J. Comparative Neurology 482: 294-308, 2005. 
  • Histone methylation at gene promoters is associated with developmental regulation and region-specific expression of ionotropic and metabotropic glutamate receptors in human brain.Stadler, F., Kolb, G., Rubusch, L., Baker, S., Jones, E. and Akbarian, S.J. Neurochem. 94: 324-336, 2005. 
  • Molecular neurocytogenetics demonstrates oncogenic parallels in schizophrenia: implications for neuroprotection and neuroregeneration.Iourov, I., Vorsanova, S. and Yorov, Y.IJNN 2:212-214, 2006. 
  • Typtophan hydroxylase 2 (TPH2) haplotypes predict levels of TPH2 mRNA expression in human pons.Lim, J., Pinsonneault, J., Sadee, W. and Saffen, D.Molecular Psychiatry 1-11, 2006. 
  • Allelic expression of serotonin transporter (SERT) mRNA in human pons: lack of correleation with polymorpshism SERTLPR.Lim, J., Pinsonneault, J., Sadee, W. and Saffen, D.Molecular Psychiatry 1-14, 2006. 
  • Prefrontal Dysfunction in schizophrenia involves mixed-lineage leukemia 1-regulated histone methylation at GABAergic gene promotersHuang, H., Matevossian, A., Whttle, C., Kim, S., Schumacher, A., Baker, S. and Akbarian, S.J. Neurosci. 24:11254-11262, 2007. 
  • Developmental regulation of the NMDA receptorsSubunits, NR3A and NR1, in human prefrontal cortex.Henson, M., Roberts, A., Salimi, K., Vadlamudi, S., Hamer, R. Gilmore, J., Jarskog, L. and Philpot, B.`Cerebral Cortex 18:2560-2573, 2008. 
  • DISC1 splice variants are upregulated in schizophrenia and associated with risk polymorphisms.Nakata, K., Lipska, B.K., Hyde, T.M., Ye, T., Newburn, E.N., Morita, Y., Vakkalank, R., Bernboim, M., Sei, Y., Weinberger, D.R. and Kleinman, J.E.Proc. Natl. Acad. Sci. USA 106: 15873-15878, 2009. 
  • Cingulate white matter neurons in bipolar disorder and schizophrenia.Connor, C.M., Guo, Y., and Akbarian, S.Biological Psychiatry 66(5): 486-493, 2009 
  • Gene expression in the prefrontal cortex during adolescence: implications for the onset of schizophrenia.Harris, L.W., Lockstone, H.E., Khaitovich, P., Weickert, C.S., Webster, M.J., Bahn, S.BMC Medical Genomics 2:28, 2009. 
  • Expression profiles of schizophrenia susceptibility genes during human prefrontal cortical development.Choi, K., Zepp, M., Higgs, B, Weichert, C and Webster, M.J Psychiatry Neursci 34: 450-458, 2009 
  • A novel, primate-sepecific brain isoform of KCNH2 impacts cortical physiology, cognition, neuronal repolarization, and risk for schizophrenia.Huffaker, S.J., Chen, J., Nicodemus, K.K., Sambataro, F., Yang, F., Mattay, V., Lipska, B.K., Hyde, T.M., Song, J., Rujescu, D., Giegling, I., Mayilyan, K., Soghoyan, A., Caforio, G., Bertolino, A., Chang, J., Egan, M. and Kleinman, J.E.Nature Medicine 15: 509-518, 2009. 
  • Genetic variation in CACNA1C affects brain circuitries related to mental illness.Bigos, K., Mattay, V., Callicott, J., Straub, R., Vakkalanka, R., Kolachana, B., Hyde, T., Lipska, B., Kleinman, J. and Weinberger, D.Arch Gen Psychiatry 67: 939-945, 2010. 
  • Common genetic variation in Neuregulin 3 (NRG3) influences risk for schizophrenia and impacts NRG3 expresssion in human brain.Kao, W.-T., Wang, Y., Kleinman, J.E., Lipska, B.K., Hyde, T.M., Weinberger, D.R. and Law, A.J.www.pnas.org/cgi/doi/10.1073/pnas.1005410107 
  • Expression of GABA Signaling Molecules KCC2, NKCC1, and GAD1 in Cortical Development and Schizophrenia.Hyde, T., Lipska, B., Ali, T., Mathew, S., Law, A., Metitiri, O., Straub, R., Ye, T., Colantuoni, C., Herman, M., Bigelow, L., Weinberger, D. and Lkeinman, J.J of Neuroscience 31: 11088-11095, 2011 
  • Interacitons of human truncated DISC1 proteins: implications for schizophrenia.Newburn, E., Hyde, T., Moritoa, Y., Weinberger, D., Kleinman, J. and Lipska, B.Transl Psychiatry 1: e30, 2011. 
  • Transcript-Specific Associations of SLC12A5 (KCC2) in Human Prefrontal Cortex with Development, Schizophrenia, and Affective Disorders.Tao, R., Li, C. Newburn, E., Ye, T., Lipska, B., Herman, M. Weinberger, D., Kleinman, J. and Hyde, T.J of Neuroscience 32: 5216-5222, 2012 
  • Contrasting changes in DRD1 and DRD2 splice variant expression in schizophrenia and affective disorders, and associations with SNPs in postmortem brain.Kaalund, S.S., Newburn, E.N., Ye, T., Tao, R., Li, C., Deep-Soboslay, A., Herman, M.M., Hyde, T.M., Weinberger, D.R., Lipska, B.K., and Kleinman, J.E.Mol. Psychiatry (2013), 1-9. 
  • Contrasting changes in DRD1 and DRD2 splice variant expression in schizophrenia and affective disorders, and associations with SNPs in postmortem brain.Kaalund, S.S., Newburn, E.N., Ye, T., Tao,R.,Li, C., Deep-Soboslay, A., Herman, M.M., Hyde, T.M., Weinberger, D.R., Lipska, B.K., and Kleinman, J.E.Mol. Psychiatry (2013), 1-9. 
  • Revisiting DARPP-32 in postmortem human brain: changes in schziprenia and bipolar disorder asociations with t-DARPP-32 expression.Kunii, Yl, Hyde, T.M., Ye, T., Li, C., Kolachana, B., Dickinson, D., Weinberger, D.R., Kleinman, J.E. and Lipska, B.K.Mol. Psych. 19:192-199, 2014. 
  • Effects of schizophrenia risk vaiations in the NRG1 gene on NRG1-IV splicing during fetal and early postnatal human neocortical development.Paterson, C., Wang, Y., Kleinman, J.E. and Law, A.J.Journal of Psychiatry In Press 
  • Revisiting DARPP-32 in postmortem human brain: changes in schziprenia and bipolar disorder asociations with t-DARPP-32 expression.Kunii, Yl, Hyde, T.M., Ye, T., Li, C., Kolachana, B., Dickinson, 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: Alternate transcripts, expresson indevelopment, andpotential relationships to brain functionand schizophrenia.Morita,Y. et al.J. Neurosci. 34:4929-4940, 2014. 
  • Characteristics of the cation cotransporter NKCC1 in human brain: Alternate transcripts, expresson indevelopment, andpotential relationships to brain functionand schizophrenia.Morita,Y. et al.J. Neurosci. 34:4929-4940, 2014. 
  • Scleroderma
  • Opposing effects of protein kinase C a and protein kinase C B on collagen expression by human lung fibroblasts are mediated via MEK/ERK and caveolin-1 signaling.Tourkina, E., gooz, Pl, Pannu, J., Bonner, M., Scholz, D., 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 Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.Correa-Cerro, L., Wassif, C., Kratz, L., Miller, G., Munasinghe, 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 diffusion tensor imaging and neuropathological study.Simonyan, K., Tovar-Moll, F., Ostuni, J. Hallett, M, Kalasinsky, 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 (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2.Kobyashi, H., Baumbach, L., Matise, T., Schiavi, A., Greenberg, F. and Hoffman, E.Human Molecular Genetics 4:7, 1995. 
  • Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy miceBricceno, K.V., Sampognaro, P.J., Van Meerbeke, J.P., Sumner, 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 ribonudleoprotein and 3'-end formation of histone mRNAs.Tisdale, S., Lott, F., Saieva,, L., Van Meerbeke, J.P., Crawford, 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 distributions in brain and spinal cord in spinocerebellar ataxia: 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 fibroblasts and brain tissue.Comi, A., Hunt, P., Vawter, M., Pardo, C., Becker, K. and Pevsner, J.Pediatric Research 53: 762-769, 2002. 
  • Sturge-Weber Syndrome: altered blood vessel fibronectin expression and morphology.Comi, A., Weisz, C., Highet, B., Skolasky, R., Pardo, C. and Hess, E.J. Child Neurology 20: 572-577, 2005. 
  • Cell proliferation and oxidative stress pathways are modified in 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 Mutation in GNAQ.Shirleym M., Tang, H., Gallione, C,. Baugher, J., Frelin, L., 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 Mutation in GNAQShirleym M., Tang, H., Gallione, C,. Baugher, J., Frelin, L., Cohen, B., North, P., Marchuk, D., Comi, A. and Pevsner, JN. Engl. J. Med. 370:1209-1219, 2014. 
  • Sudden Infant Death Syndrome
  • Vascular endothelial growth factor in the cerebrospinal fluid of 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. 
  • The apolipoprotein e2 allele is more frequent in African American Sudden Infant Death Syndrome.Donlon, T.A., Zielke, H.R., Vigorito, R.D., Eberly, A., Li., C. And Crowell, D.Neurogenetics (Submitted) 
  • Involvement of mast cells in Sudden Infant Death Syndrome.Platt, M.S., Yunginger, J.W., Sekula-Perlman, A., Irani, A.M., 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 Sudden Infant Death Syndrome.Chen, C.L., Liu, Q., Evans, W.E., Sander, C.H. and Relling, M.V.J. Paed. & Child Health.33:31-37, 1997. 
  • Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.Boles, R.G., Buck, E.A., Blitzer, M.G., Platt, M.S., Cowan, T.M., Martin, S.K., Yoon, H.-R., Madsen, J.A., Reyes-Mugica, M. and Rinaldo, P.J. Pediatr. 132:924-933, 1998. 
  • Failure to detect elevated levels of carboxyhemoglobin in infants dying from SIDS.Meny, R.G., Vreman, H.J., Stevenson, D.K., Hauck, F.R., Donoghue, 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 infants who died of sudden infant death syndrome: evidence for antecedent hypoxia.Jones, K., Krous, H., Nadeau, J., Blackbourne, B., Zielke, H.R., and Gozal, D.Pediatrics 111:358-363, 2003. 
  • Sudden infant death syndrome: association with a promotor polymorphism of the serotonin transporter gene.Weese-Mayer, D.E., Berry-Kravis, E.M., Maher, B.S., Silvestri, 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 Death Syndrome: a haplotype analysis.Weese-Mayer, D., Zhou, L., Berry-Kravis, E., Maher, B., Silvestri, J. and Marazita, M.Amer. J. Med. Gen. 122A: 238-245, 2003. 
  • Sudden Infant Death Syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.Weese-Mayer, D., Zhou, L., Berry-Kravis, E., Silvestri, B., Maher, B., Curran, M and Marazita, MPediatric Research 56: 391-395, 2004. 
  • The 3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: a haplotype analysis.Maher, B., Marazita, M., Zhou, L., Berry-Kravis, E. and Weese-Mayer, D.Amer. J .Med. Gen. 140A: 1453-1457, 2006. 
  • Sudden infant death syndrome: Case-Control frequency differences in paired like homeobox (PHOX) 2B gene.Rand, C., Weese-Mayer, D., Zhou, L., Maher, B., Cooper, M., Marazita, M. and Berry-Kravis, E.Amer. J. Med. Gen,.140:1687-1691, 2006. 
  • Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome.Rand, C., Weese-Mayer, D., Maher, B., Zhou, L., Marazita, M. and Berry-Kravis, E.Amer. J. Med. Gen. 140: 1447-1452, 2006. 
  • Magnesium deficiency in the very young is a major cause of the 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 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 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 syndrome.Morley, M., Rand, C., Berry-Kravis, E., Zhou, L., Fan, W. and Weese-Mayer, D.Amer. J. Med. Gen. Part A 146A:930-933, 2008. 
  • Tay-Sachs Disease
  • Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation.Wada, R., Tifft, C. and Proia, R.PNAS, 97: 10954-10959, 2000. 
  • Presence of an unusual GM2 derivative, taurine-conjugated GM2, in 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 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 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 mRNA expression in dysplastic neurons and giant cells of cortical tubers.White, R., Hua, Y., Scheithauer, B., Lynch, D.R., Henske, E.P. and Crino, P.B.Ann. Neurol. 49: 67-78, 2001. 
  • Tuberin Regulates OGG, in Renal Epithelial Cells and Kidney Tumors from Humans with Tuberous Sclerosis.Habib, S.Submitted, 2006, Oncogene 
  • Interferon-y-Jak-Stat signaling in pulmonary lymphangioleiomyomatosis and renal angiomyolipoma.El-Hashemite, N. and Kwiatkowski, D.Amer. J. Respir. Cell. Mol. Biol. 33: 227-230, 2005. 
  • Cell-Specific Alterations of Glutamate REceptor Expression in Tuberous Sclerosis Complex Cortical Tubers.Talos, D., Kwiatkowski, D., Cordero, K., et alAnn Neurol 63: 454-465, 2008 
  • Insight into mechanism of oxidative DNA damage in angiomyolipomas from TSC patients.Habib, S.Molecular Cancer 8:13, 2009. 
  • Genetic polymorphisms in OGG, and it's association with angiomyolipomas, a benign kidney tumor in patients with tuberous sclerosis.Habib, S., Daniel, E., Subrats, N., Schneider, J., Duggirals, R, Abbouol, H and thameem, F.Cancer Biology & Therapy 7:1-5, 2008. 
  • TSC2 Deficiency increases PTEN via HIF1 alpha.Mahimainathan, L., Ghosh-Choudhury, N., Venkatesan, B., Das, F., Mandal, C., Dey, N., Habib, S., Kasinath, B., Abboud, H. and Choudhury, G.J. Biol. Chem. 284: 2790-27798, 2009. 
  • S6K1 is multifaceted regulator of Mdm2 that connects nutrient status and DNA damage response.Lai, K., Leong, W., Chau, J., Jia, D., Zeng, L., Liu, H., He, L., Hao, A., Zhang, H., Meek, D., Velagapudi, C., Habib, S. and Li, B.EMBO Journal 29;2994-3006, 2010. doi:10.1038/emboj.2010.166 
  • Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events.Qin, W., Chan, J.A., Vinters, H.V., Mathern, G.W., Franz, D.N., Taillon, B.E., Bouffard, P. and Kwiatkowski, D.J.Brain Pathology ISSN 1015-6305, 2010. 
  • Altered Inhibition in TUberous Sclerosis and Type IIb Cortical Dysplasia.Talos, D., Sun, H., Kosaras, B., et alAnn Neurol 71:539-551, 2012 
  • Novel mechanism of regulation of fibrosis in kidney tumor with tuberous sclerosis.Liang, S., Cuevas, G., Tizani, S., Salas, T., Liu, H., Li, B. and Habib, S.L.Molecular Cancer 12, 2013. 
  • Neural Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1.Di Nardo, A. et al.Human Molecular Genetics 2014, 1-10. 
  • Developmental brain abnormalities in tuberous sclerosis complex: A comparative tissue analysis of cortical tubers and perituberal cortex.Ruppe, V., Dilsiz, P.,Reiss, C.S., Carlson,C., Devinsky,O., Zagzag, D., Weiner, H.L. and Talos, D.M.Epilepsia 55:539-550, 2014. 
  • Neural Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1.Di Nardo, A. et al.Human Molecular Genetics 2014, 1-10. 
  • MEK-ERK1/2-dependent FLNA overexpression promotes abnormal dendritic pattererning in tuberous scleorosis independent of mTORZhang, L., Bartley, C.M., Gong, X., Hsieh, L.S., Lin,T.V., Feliciano,D.M., and Bordey, A.Neuron 84:1-14, 2014. 
  • Vanishing White Matter Disease
  • elF2B-Related Disorders: Antenatal onset and involvement of multiple organsvan der Knaap, van Berkel, C.G.m, Herms, J., can Coster, R., Baethmann, M., Naidu, S., Blothauser, E., Willemsen, M.A.A.P., Plecko, B., Hoffmann, G.F., Proud, C.G., Scheper, G.C. and Pronk, J.C.Am. J. Human Genetics 73:1199-1207, 2003 
  • elF2B-Related disorders: Antenatal onset and involvement of multiple organs.van der Knaap, van Berkel, C.G.m, Herms, J., can Coster, R., Baethmann, M., Naidu, S., Blothauser, E., Willemsen, M.A.A.P., Plecko, B., Hoffmann, G.F., Proud, C.G., Scheper, G.C. and Pronk, J.C.Am. J. Hum. Genet. 73:1199-1207, 2003. 
  • Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease.Kollenburg, B., van Dijk, J., Garbern, J., Thomas, A., Scheper, 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, E., van Berkel, C., van Kesteren, R., Windrem, M., Hol, E., 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 maturation in vanishing white matter disease.Bugiani, M., Postma, N., Polder, E., Dieleman, M., Scheffer, P., Sim, F., van der Knapp, M. and Boor, I.Brain 136: 209-222, 2013 
  • von Hippel-Lindau Disease
  • Developmentally arrested structural elements preceding CNS tumorigenesis in VHL diseaseShively, S.B., Falke,E.A., Li, J.,Tran, M.G.B.., Thompson, E.R.., Maxwell, P.H., Roessler, E., Oldfield, E.H., Lonser, R.R., and Vortmeyer, A.O.Modern Pathology 24:1023-1030, 2011. 
  • Walker-Warburg Syndrome
  • Walker-Warburg syndrome: neurologic features and muscle membrane structure.Kanoff, R., Curless, R., Petito, C., Siatkowski, R. and Pegoraro, 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, R.W., Strauch, E.D., Sun, C.C., R. Huber, R., Meltzer, S.J., and Schlessinger, D.J. Pediatric Hematology/Oncology, 23:496-499, 2001. 
  • Zellweger Syndrome
  • Altered phospholipid molecular species and glycolipid compostion in brain, liver and fibroblasts of Zellweger syndrome.Miyazaki, C., Saitoh, M., Itoh, M., Yamashita, S., Miyagishi, M., Takashima, S., Moser, A.B., Iwamori, M. and Mizuguchi, M. Neuroscience Letters 552:71-75, 2013. 
  • Altered phospholipid molecular species and glycolipid compostion in brain, liver and fibroblasts of Zellweger syndrome.Miyazaki, C., Saitoh, M., Itoh, M., Yamashita, S., Miyagishi, M., Takashima, S., Moser, A.B., Iwamori, M. and Mizuguchi, M. Neuroscience Letters 552:71-75, 2013.