About

Publications

Over the years, more than a hundred thousand tissue samples have been provided by the HBTRC/NeuroBioBank to investigators across the world. These studies result in important advances in medicine, and in particular in the field of research on nervous system disorders. These advances are documented in hundreds of peer-reviewed research articles. Listed below are those published since year 2000.

NeuroBioBank (2013-Present)
HBTRC Publications (1999-2013)

NBB 2021
  1. Bandres-Ciga S, Ryten M, Kim JJ, Traynor BJ, ITALSGEN, Abramzon Y, Landers JE, Dewan R, Chiò A, Ahmed S, Nalls MA, Choi SW, Saez-Atienzar S, Reynolds RH, International ALS Genomics Consortium, Chia R, Cookson MR, Langston RG PMID: 33523907 Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types. Science advances 2021
  2. Herrmann JR, Jackson TC, Kochanek PM, Gorse K PMID: 33411243 Hippocampal and Prefrontal Cortical Brain Tissue Levels of Irisin and GDF15 Receptor Subunits in Children. Molecular neurobiology 2021
  3. Je G, Basu S, Kim YS, Guhathakurta S, Adams L, Song MK, Fiadeiro MB, Kim J, Adler E PMID: 33428332 Targeted attenuation of elevated histone marks at SNCA alleviates α-synuclein in Parkinson's disease. EMBO molecular medicine 2021
  4. Limegrover CS, Edwards HM, Izzo NJ, Schneider LS, Henstridge C, Davis CS, Chelsky D, Catalano SM, Rishton G, Look G, Blennow K, Williams C, Grundman M, Safferstein H, LaBarbera KM, Pike I, Waybright L, Spires-Jones TL, Cirrito JR, DeKosky ST, Sadlek K, Hamby ME, Rehak C, Yurko R, Yuede CM, LeVine H 3rd, Zetterberg H PMID: 33559354 Preclinical and clinical biomarker studies of CT1812: A novel approach to Alzheimer's disease modification. Alzheimer's & dementia : the journal of the Alzheimer's Association 2021
  5. Mobley WC, Das U, Chen XQ, Park G PMID: 33691783 Normal levels of KIF5 but reduced KLC1 levels in both Alzheimer disease and Alzheimer disease in Down syndrome: evidence suggesting defects in anterograde transport. Alzheimer's research & therapy 2021

NBB 2020
  1. Aberg KA, Dean B, Shabalin AA, Chan RF, Zhao M, van Grootheest G, Xie LY, Turecki G, Penninx BWJH, van den Oord EJCG, Guintivano J, Kaminsky ZA PMID: 31889537 Cell Type-Specific Methylome-wide Association Studies Implicate Neurotrophin and Innate Immune Signaling in Major Depressive Disorder. Biological psychiatry 2020
  2. Amamoto R, Zuccaro E, Curry NC, Khurana S, Chen HH, Cepko CL, Arlotta P PMID: 31728515 FIN-Seq: transcriptional profiling of specific cell types from frozen archived tissue of the human central nervous system. Nucleic acids research 2020
  3. Bao X, Wu J, Xie Y, Kim S, Michelhaugh S, Jiang J, Mittal S, Sanai N, Li J PMID: 31664714 Protein Expression and Functional Relevance of Efflux and Uptake Drug Transporters at the Blood-Brain Barrier of Human Brain and Glioblastoma. Clinical pharmacology and therapeutics 2020
  4. Bauman MD, Schumann CM, Warling A, Uchida R, Shin H, Dodelson C, Garcia ME, Shea-Shumsky NB, Svirsky S, Pothast M, Kelley H, Brzezinski C, Alexander A, McKee AC, Stein TD, Schall M, Jacobs B PMID: 32869318 Putative dendritic correlates of chronic traumatic encephalopathy: A preliminary quantitative Golgi exploration. The Journal of comparative neurology 2020
  5. Blauwendraat C, Pletnikova O, Morris CM, Masliah E, Pantelyat A, Gasser T, Troncoso J, Heutink P, Scholz SW, Ahmed S, Bandres-Ciga S, Resnick SM, Cookson MR, Hernandez DG, Dawson TM, Rosenthal LS, Schulte C, Makarious MB, Krohn L, Pihlstrøm L, Gan-Or Z, Reed X, Heilbron K, Tan M, Gibbs JR, Kumaran R, Langston R, Bonet-Ponce L, Alcalay RN, Hassin-Baer S, Greenbaum L, Iwaki H, Leonard HL, Grenn FP, Ruskey JA, Sabir M, Toft M, van Hilten JJ, Marinus J, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ, 23andMe Research Team, Hillis AE, Albert MS, Ferrucci L, Grosset D, Lesage S, Corvol JC, Brice A, Noyce AJ, Wood N, Hardy J, Shulman LM, Jankovic J, Shulman JM, Cannon P, Morris H, Nalls MA, Singleton AB PMID: 31755958 Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia. Brain : a journal of neurology 2020
  6. Brandenburg C, Blatt GJ, Sulkaj I, Randolph B, Zhang K, Kachadoorian M, Soghomonian JJ PMID: 33240045 Increased Dopamine Type 2 Gene Expression in the Dorsal Striatum in Individuals With Autism Spectrum Disorder Suggests Alterations in Indirect Pathway Signaling and Circuitry. Frontiers in cellular neuroscience 2020
  7. Brekk OR, Honey JR, Lee S, Isacson O, Hallett PJ PMID: 33060302 Cell type-specific lipid storage changes in Parkinson's disease patient brains are recapitulated by experimental glycolipid disturbance. Proceedings of the National Academy of Sciences of the United States of America 2020
  8. Cajamarca SA, Norris EH, van der Weerd L, Strickland S, Ahn HJ PMID: 32518112 Cerebral amyloid angiopathy-linked β-amyloid mutations promote cerebral fibrin deposits via increased binding affinity for fibrinogen. Proceedings of the National Academy of Sciences of the United States of America 2020
  9. Cicchetti F, Mailhot B, Christin M, Tessandier N, Sotoudeh C, Bretheau F, Turmel R, Pellerin ä, Wang F, Bories C, Joly-Beauparlant C, De Koninck Y, Droit A, Scherrer G, Boilard E, Sharif-Naeini R, Lacroix S PMID: 32573694 Neuronal interleukin-1 receptors mediate pain in chronic inflammatory diseases. The Journal of experimental medicine 2020
  10. Crawford F, Mullan M, Crynen G, Ojo JO, Ajoy R, Algamal M, Reed JM, Pearson A, Purohit D PMID: 32854643 Molecular abnormalities in autopsied brain tissue from the inferior horn of the lateral ventricles of nonagenarians and Alzheimer disease patients. BMC neurology 2020
  11. Cuevas E, Raymick J, Sarkar S, Rosas-Hernandez H, Hanig J PMID: 32852699 Modification of methods to use Congo-red stain to simultaneously visualize amyloid plaques and tangles in human and rodent brain tissue sections. Metabolic brain disease 2020
  12. Del Bigio MR, Pejhan S, Siu VM, Ang LC, Rastegar M PMID: 32246495 Differential brain region-specific expression of MeCP2 and BDNF in Rett Syndrome patients: a distinct grey-white matter variation. Neuropathology and applied neurobiology 2020
  13. Delivoria-Papadopoulos M, Almira-Suarez MI, Malaeb SN, Jablonska B, Goldstein EZ, Bhattacharya S, Banerjee P, Gallo V, Koutroulis I, Kratimenos P, Knoblach S PMID: 33294779 Epidermal Growth Factor Receptor Inhibition Reverses Cellular and Transcriptomic Alterations Induced by Hypoxia in the Neonatal Piglet Brain. iScience 2020
  14. Douville RN, Ferguson-Parry J, Curzio DD, Gurm M, Turnbull M, Nadeau MJ, Meek B, Rempel JD, Fineblit S, Jonasson M, Hebert S PMID: 32629888 Pro-Inflammatory Signaling Upregulates a Neurotoxic Conotoxin-Like Protein Encrypted Within Human Endogenous Retrovirus-K. Cells 2020
  15. Dragoljevic D, Ditiatkovski M, Pushkarsky T, Fu Y, Hoang A, Bukrinsky M, Carmichael I, Hill AF, Murphy AJ, Low H, Mukhamedova N, Sviridov D PMID: 32732283 Modification of lipid rafts by extracellular vesicles carrying HIV-1 protein Nef induces redistribution of amyloid precursor protein and Tau, causing neuronal dysfunction. The Journal of biological chemistry 2020
  16. Dudem S, Large RJ, Kulkarni S, McClafferty H, Tikhonova IG, Sergeant GP, Thornbury KD, Shipston MJ, Perrino BA, Hollywood MA PMID: 31932443 LINGO1 is a regulatory subunit of large conductance, Ca2+-activated potassium channels. Proceedings of the National Academy of Sciences of the United States of America 2020
  17. Feng H, Schorpp K, Jin J, Yozwiak CE, Hoffstrom BG, Decker AM, Rajbhandari P, Stokes ME, Bender HG, Csuka JM, Upadhyayula PS, Canoll P, Uchida K, Soni RK, Hadian K, Stockwell BR PMID: 32160546 Transferrin Receptor Is a Specific Ferroptosis Marker. Cell reports 2020
  18. Fiock KL, Smalley ME, Crary JF, Pasca AM, Hefti MM PMID: 32393582 Increased Tau Expression Correlates with Neuronal Maturation in the Developing Human Cerebral Cortex. eNeuro 2020
  19. Gu Q, Cuevas E, Raymick J, Kanungo J, Sarkar S PMID: 31487003 Downregulation of 14-3-3 Proteins in Alzheimer's Disease. Molecular neurobiology 2020
  20. Harlan BA, Killoy KM, Pehar M, Liu L, Auwerx J, Vargas MR PMID: 32014438 Evaluation of the NAD+ biosynthetic pathway in ALS patients and effect of modulating NAD+ levels in hSOD1-linked ALS mouse models. Experimental neurology 2020
  21. Heller A, Coffman SS, Jarvis K PMID: 32804151 Potentially Pathogenic Calcium Oxalate Dihydrate and Titanium Dioxide Crystals in the Alzheimer's Disease Entorhinal Cortex. Journal of Alzheimer's disease : JAD 2020
  22. Iacovelli L, Liberatore F, Di Menna L, Fucile S, Vergassola M, Pilc A, Martinello K, Bruno V, Antenucci N, Nicoletti F, Simmaco M, Giannino G, Traficante A, Cieslik P, Ulivieri M, Lionetto L, Curto M, Pittaluga A, Battaglia G, Wierońska JM, Mascio G, Fazio F, Chocyk A PMID: 32506121 The Trace Kynurenine, Cinnabarinic Acid, Displays Potent Antipsychotic-Like Activity in Mice and Its Levels Are Reduced in the Prefrontal Cortex of Individuals Affected by Schizophrenia. Schizophrenia bulletin 2020
  23. Jahn SC, Gay LA, Weaver CJ, Renne R, Langaee TY, Stacpoole PW, James MO PMID: 32357971 Age-Related Changes in miRNA Expression Influence GSTZ1 and Other Drug Metabolizing Enzymes. Drug metabolism and disposition: the biological fate of chemicals 2020
  24. Kilonzo VW, Sweet RA, Glausier JR, Pitts MW PMID: 32681171 Deficits in Glutamic Acid Decarboxylase 67 Immunoreactivity, Parvalbumin Interneurons, and Perineuronal Nets in the Inferior Colliculus of Subjects With Schizophrenia. Schizophrenia bulletin 2020
  25. Lawrence R, LeBowitz JH, Crawford BE, Grover A, Crippen-Harmon D, Nave L, Vincelette J, Wait JCM, Melton AC, Brown JR, Webster KA, Yip BK, Baridon B, Vitelli C, Rigney S, Christianson TM, Tiger PMN, Lo MJ, Holtzinger J, Shaywitz AJ, Fitzpatrick PA, Bullens S, Aoyagi-Scharber M, Bunting S, O'Neill CA, Pinkstaff J, Bagri A PMID: 31942701 Translational studies of intravenous and intracerebroventricular routes of administration for CNS cellular biodistribution for BMN 250, an enzyme replacement therapy for the treatment of Sanfilippo type B. Drug delivery and translational research 2020
  26. Li P, Marshall L, Labrie V, Ensink E, Lang S, Schilthuis M, Lamp J, Vega I PMID: 32151270 Hemispheric asymmetry in the human brain and in Parkinson's disease is linked to divergent epigenetic patterns in neurons. Genome biology 2020
  27. Li Y, Hu M, Xu Z, Sullivan PF, Lu L, Liu X, Huang WK, Giusti-Rodríguez P, Cui J, Zhang S, Xu W, Wen Z, Ma S, Rosen JD, Bartels CF, Kawaguchi R, Scacheri PC, Rong Z, Song H, Ming GL, Jin F PMID: 32592681 Robust Hi-C Maps of Enhancer-Promoter Interactions Reveal the Function of Non-coding Genome in Neural Development and Diseases. Molecular cell 2020
  28. Li Y, Sullivan PF, Halvorsen M, Huh R, Oskolkov N, Wen J, Netotea S, Giusti-Rodriguez P, Karlsson R, Bryois J, Nystedt B, Ameur A, Kähler AK, Ancalade N, Farrell M, Crowley JJ, Magnusson PKE, Gyllensten U, Hultman CM, Szatkiewicz JP PMID: 32296054 Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia. Nature communications 2020
  29. Louis ED, Kerridge CA, Chatterjee D, Martuscello RT, Kuo SH, Sims PA, Faust PL, Hartstone WG PMID: 31707044 Gene expression analysis of the cerebellar cortex in essential tremor. Neuroscience letters 2020
  30. Mastroeni D, Guo J, Liao R, Coleman PD, Pham T, Labaer J PMID: 32244728 Highly Sensitive and Multiplexed In-Situ Protein Profiling with Cleavable Fluorescent Streptavidin. Cells 2020
  31. Meador-Woodruff JH, Chadha R PMID: 31952070 Downregulated AKT-mTOR signaling pathway proteins in dorsolateral prefrontal cortex in Schizophrenia. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2020
  32. Messing A, Sherbini O, Cross Z, Woidill S, Walkiewicz M, Takanohashi A, Waldman A, Perng MD, Fatemi A, Du Y, Sase S, Simons C, Helman G, Haake BC, Vanderver A, Brenner M, Hagemann TL, Zhao L PMID: 32126152 Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. Human mutation 2020
  33. Moody CL, Funk AJ, Devine E, Devore Homan RC, Boison D, McCullumsmith RE, O'Donovan SM PMID: 32275755 Adenosine Kinase Expression in the Frontal Cortex in Schizophrenia. Schizophrenia bulletin 2020
  34. Okhravi HR, Bohannon DG, Didier ES, Kuroda MJ, Kim WK, Kim J PMID: 33002766 A subtype of cerebrovascular pericytes is associated with blood-brain barrier disruption that develops during normal aging and simian immunodeficiency virus infection. Neurobiology of aging 2020
  35. Praticò D, Curtis ME, Yu D PMID: 32320094 Dysregulation of the Retromer Complex System in Down Syndrome. Annals of neurology 2020
  36. Saul J, Hutchins E, Reiman R, Ostrow LW, Saul M, Harris BT, Van Keuren-Jensen K, Bowser R, Bakkar N PMID: 32586411 Global alterations to the choroid plexus blood-CSF barrier in amyotrophic lateral sclerosis. Acta neuropathologica communications 2020
  37. Savonenko A, Lee GH, Na CH, Lin R, Chen PY, Linden DJ, Renuse S, Chen KT, Xiao B, Szumlinski KK, Troncoso JC, Pandey A, Worley PF, Learman LN, Park JM, Resnick SM PMID: 33353667 Persistently Elevated mTOR Complex 1-S6 Kinase 1 Disrupts DARPP-32-Dependent D1 Dopamine Receptor Signaling and Behaviors. Biological psychiatry 2020
  38. Taghibiglou C, Sekar S PMID: 31759082 Nuclear accumulation of GAPDH, GluA2 and p53 in post-mortem substantia nigral region of patients with Parkinson's disease. Neuroscience letters 2020
  39. Viana GM, Priestman DA, Platt FM, Tomatsu S, Pshezhetsky AV, Khan S PMID: 32024172 Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms. Journal of clinical medicine 2020
  40. Wang M, Haroutunian V, Katsel P, Zhang B, Charney AW, Gandy S, Shackleton B, Wang YC, Zhu J, Schadt EE, Beckmann ND, Lin WJ, Cohain AT, Wang P, Ma W, Jiang C, Audrain M, Comella PH, Fakira AK, Hariharan SP, Belbin GM, Girdhar K, Levey AI, Seyfried NT, Dammer EB, Duong D, Lah JJ, Haure-Mirande JV, Fanutza T, Blitzer R, Kenny E, Tu Z, Ehrlich ME, Salton SR PMID: 32770063 Multiscale causal networks identify VGF as a key regulator of Alzheimer's disease. Nature communications 2020
  41. Wigg KG, Feng Y, Reble E, Barr CL PMID: 32399473 DNA Variant in the RPGRIP1L Gene Influences Alternative Splicing. Molecular neuropsychiatry 2020
  42. Yan Z, Rein B, Tan T, Mills A, Williams J, Wang W, Yang F, Zhang F PMID: 32099100 Reversal of synaptic and behavioral deficits in a 16p11.2 duplication mouse model via restoration of the GABA synapse regulator Npas4. Molecular psychiatry 2020
  43. Yan Z, Rein B, Wang ZJ PMID: 31602784 Diminished social interaction incentive contributes to social deficits in mouse models of autism spectrum disorder. Genes, brain, and behavior 2020
  44. Zhang H, Wang H, Chen W, Tan Z, Zhang L, Dong Z, Cui W, Zhao K, Jing H, Cao R, Kim C, Safar JG, Xiong WC, Mei L PMID: 32457076 A Role of Low-Density Lipoprotein Receptor-Related Protein 4 (LRP4) in Astrocytic Aβ Clearance. The Journal of neuroscience : the official journal of the Society for Neuroscience 2020
  45. Zhang L, Zhu L, Ng S, Tcw J, Guo L, Huang M, Elder G, Zhang B, Haroutunian V, Sano M, Cai D, El Gaamouch F, Pero A, Hou J, Goate A, Cao J PMID: 32632205 MicroRNA-195 rescues ApoE4-induced cognitive deficits and lysosomal defects in Alzheimer's disease pathogenesis. Molecular psychiatry 2020

NBB 2019
  1. Agus F, Crespo D, Myers RH, Labadorf A PMID: 31619230 The caudate nucleus undergoes dramatic and unique transcriptional changes in human prodromal Huntington's disease brain. BMC medical genomics 2019
  2. Akkouh IA, Skrede S, Holmgren A, Ersland KM, Hansson L, Bahrami S, Andreassen OA, Steen VM, Djurovic S, Hughes T PMID: 31652432 Exploring lithium's transcriptional mechanisms of action in bipolar disorder: a multi-step study. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2019
  3. Alpay Savasan Z, Yilmaz A, Ugur Z, Aydas B, Bahado-Singh RO, Graham SF PMID: 30717353 Metabolomic Profiling of Cerebral Palsy Brain Tissue Reveals Novel Central Biomarkers and Biochemical Pathways Associated with the Disease: A Pilot Study. Metabolites 2019
  4. Barak B, Zhang Z, Liu Y, Nir A, Trangle SS, Ennis M, Levandowski KM, Wang D, Quast K, Boulting GL, Li Y, Bayarsaihan D, He Z, Feng G PMID: 31011227 Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug. Nature neuroscience 2019
  5. Battaglia RA, Beltran AS, Delic S, Dumitru R, Robinson JA, Kabiraj P, Herring LE, Madden VJ, Ravinder N, Willems E, Newman RA, Quinlan RA, Goldman JE, Perng MD, Inagaki M, Snider NT PMID: 31682229 Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity. eLife 2019
  6. Berto S, Mendizabal I, Usui N, Toriumi K, Chatterjee P, Douglas C, Tamminga CA, Preuss TM, Yi SV, Konopka G PMID: 31712436 Accelerated evolution of oligodendrocytes in the human brain. Proceedings of the National Academy of Sciences of the United States of America 2019
  7. Blauwendraat C, Pletnikova O, Morris CM, Masliah E, Pantelyat A, Troncoso J, Scholz SW, Sabir MS, Ahmed S, Serrano GE, Beach TG, Perkins M, Rice AC, Pihlstrom L, Resnick SM, Cookson MR, Hernandez DG, Albert M, Dawson TM, Rosenthal LS, Houlden H PMID: 30798004 Assessment of APOE in atypical parkinsonism syndromes. Neurobiology of disease 2019
  8. Brandenburg C, Blatt GJ PMID: 31325179 Differential serotonin transporter (5-HTT) and 5-HT2 receptor density in limbic and neocortical areas of adults and children with autism spectrum disorders: implications for selective serotonin reuptake inhibitor efficacy. Journal of neurochemistry 2019
  9. Diez-Fairen M, Blauwendraat C, Scholz SW, Bandres-Ciga S, Houlden H, Ding J, Makarious MB, Krohn L, Pihlstrøm L, Gan-Or Z PMID: 31670782 ARSA variants in α-synucleinopathies. Brain : a journal of neurology 2019
  10. Dorninger F, König T, Scholze P, Berger ML, Zeitler G, Wiesinger C, Gundacker A, Pollak DD, Huck S, Just WW, Forss-Petter S, Pifl C, Berger J PMID: 30759250 Disturbed neurotransmitter homeostasis in ether lipid deficiency. Human molecular genetics 2019
  11. Glausier JR, Kelly MA, Salem S, Chen K, Lewis DA PMID: 30867085 Proxy measures of premortem cognitive aptitude in postmortem subjects with schizophrenia. Psychological medicine 2019
  12. Haroutunian V, Fullard JF, Charney AW, Voloudakis G, Uzilov AV, Roussos P PMID: 30655504 Assessment of somatic single-nucleotide variation in brain tissue of cases with schizophrenia. Translational psychiatry 2019
  13. Haroutunian V, Katsel P, Beeri MS, Robinson A, Lubitz I, Atrakchi-Baranes D, Licht-Murava A, Leroith D, Liraz-Zaltsman S PMID: 30635783 Combination of Insulin with a GLP1 Agonist Is Associated with Better Memory and Normal Expression of Insulin Receptor Pathway Genes in a Mouse Model of Alzheimer's Disease. Journal of molecular neuroscience : MN 2019
  14. Heine VM, Hinz L, Torrella Barrufet J PMID: 31796123 KCC2 expression levels are reduced in post mortem brain tissue of Rett syndrome patients. Acta neuropathologica communications 2019
  15. Helman AM, Siever M, McCarty KL, Lott IT, Doran E, Abner EL, Schmitt FA, Head E PMID: 30452414 Microbleeds and Cerebral Amyloid Angiopathy in the Brains of People with Down Syndrome with Alzheimer's Disease. Journal of Alzheimer's disease : JAD 2019
  16. Houlden H, Humphrey J, Ilyas M, Andrade NS, Cortese A, Salpietro V, Efthymiou S, Tribollet E, Reilly MM, Buglo E, Versino M, Vandrovcova J, Marques WJ, Züchner S, Sivakumar P, Yau WY, Fratta P, Tomaselli PJ, Sullivan R, Callegari I, Wood NW, Polke J, Bronstein A, Rebelo A, Jaunmuktane Z, Tariq H, Devigili G, Rossor AM, Kaski D, Simone R PMID: 30926972 Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nature genetics 2019
  17. Hui KK, Takashima N, Watanabe A, Chater TE, Matsukawa H, Nekooki-Machida Y, Nilsson P, Endo R, Goda Y, Saido TC, Yoshikawa T, Tanaka M PMID: 30989111 GABARAPs dysfunction by autophagy deficiency in adolescent brain impairs GABAA receptor trafficking and social behavior. Science advances 2019
  18. Iacono D, Geraci-Erck M, Peng H, Rabin ML, Kurlan R PMID: 30193818 Hypertrophy of nigral neurons in Torsin1A deletion (DYT1) carriers manifesting dystonia. Parkinsonism & related disorders 2019
  19. Konki M, Malonzo M, Karlsson IK, Lindgren N, Ghimire B, Smolander J, Scheinin NM, Ollikainen M, Laiho A, Elo LL, Lönnberg T, Röyttä M, Pedersen NL, Kaprio J, Lähdesmäki H, Rinne JO, Lund RJ PMID: 31477183 Peripheral blood DNA methylation differences in twin pairs discordant for Alzheimer's disease. Clinical epigenetics 2019
  20. Lacaille H, Vacher CM, Bakalar D, O'Reilly JJ, Salzbank J, Penn AA PMID: 30809588 Impaired Interneuron Development in a Novel Model of Neonatal Brain Injury. eNeuro 2019
  21. Lawrence R, Van Vleet JL, Mangini L, Harris A, Martin N, Clark W, Chandriani S, LeBowitz JH, Giugliani R, d'Azzo A, Yogalingam G, Crawford BE PMID: 31720227 Characterization of glycan substrates accumulating in GM1 Gangliosidosis. Molecular genetics and metabolism reports 2019
  22. Lee DS, Luo C, Zhou J, Chandran S, Rivkin A, Bartlett A, Nery JR, Fitzpatrick C, O'Connor C, Dixon JR, Ecker JR PMID: 31501549 Simultaneous profiling of 3D genome structure and DNA methylation in single human cells. Nature methods 2019
  23. Lee PJ, Louis ED, Kerridge CA, Chatterjee D, Koeppen AH, Faust PL PMID: 30590599 A Quantitative Study of Empty Baskets in Essential Tremor and Other Motor Neurodegenerative Diseases. Journal of neuropathology and experimental neurology 2019
  24. Li CY, Hosey-Cojocari C, Basit A, Unadkat JD, Leeder JS, Prasad B PMID: 31297641 Optimized Renal Transporter Quantification by Using Aquaporin 1 and Aquaporin 2 as Anatomical Markers: Application in Characterizing the Ontogeny of Renal Transporters and Its Correlation with Hepatic Transporters in Paired Human Samples. The AAPS journal 2019
  25. Liu Y, Liu J, Zhang Y, Li CY, Zhang M, Gao H, Liu D, Zhong X, Shi X, Yu P, Jin L, Tang Y, Song Y, Hu X, Song L, Qin J, Wu F, Lan F, Xiao RP PMID: 31481791 CaMKII-δ promotes cardiomyopathy through disrupting UBE2T-dependent DNA repair. Nature cell biology 2019
  26. Louis ED, Kerridge CA, Chatterjee D, Martuscello RT, Diaz DT, Koeppen AH, Kuo SH, Vonsattel JG, Sims PA, Faust PL PMID: 31317229 Contextualizing the pathology in the essential tremor cerebellar cortex: a patholog-omics approach. Acta neuropathologica 2019
  27. Luo Z, Ahlers-Dannen KE, Spicer MM, Yang J, Alberico S, Stevens HE, Narayanan NS, Fisher RA PMID: 31120439 Age-dependent nigral dopaminergic neurodegeneration and α-synuclein accumulation in RGS6-deficient mice. JCI insight 2019
  28. Ma L, Herren AW, Espinal G, Randol J, McLaughlin B, Martinez-Cerdeño V, Pessah IN, Hagerman RJ, Hagerman PJ PMID: 31481131 Composition of the Intranuclear Inclusions of Fragile X-associated Tremor/Ataxia Syndrome. Acta neuropathologica communications 2019
  29. Meador-Woodruff JH, Kim P, Scott MR PMID: 31578497 Dysregulation of the unfolded protein response (UPR) in the dorsolateral prefrontal cortex in elderly patients with schizophrenia. Molecular psychiatry 2019
  30. Pai S, Li P, Killinger B, Marshall L, Jia P, Liao J, Petronis A, Szabó PE, Labrie V PMID: 31053723 Differential methylation of enhancer at IGF2 is associated with abnormal dopamine synthesis in major psychosis. Nature communications 2019
  31. Pletnikova O, Morris CM, Pastor P, Pantelyat A, Gasser T, Troncoso J, Scholz SW, Sabir MS, Ahmed S, Fairen MD, Ding J, Ispierto L, Butala A, Schulte C, Jabbari E, Morris HR, Gelpi E PMID: 31404212 MAPT p.V363I mutation: A rare cause of corticobasal degeneration. Neurology. Genetics 2019
  32. Rathje M, Waxman H, Benoit M, Tammineni P, Leu C, Loebrich S, Nedivi E PMID: 30610203 Genetic variants in the bipolar disorder risk locus SYNE1 that affect CPG2 expression and protein function. Molecular psychiatry 2019
  33. Rizzardi LF, Hickey PF, Rodriguez DiBlasi V, Tryggvadó ttir R, Callahan CM, Idrizi A, Hansen KD, Feinberg AP PMID: 30643296 Neuronal brain-region-specific DNA methylation and chromatin accessibility are associated with neuropsychiatric trait heritability. Nature neuroscience 2019
  34. Scholz SW, Makarious MB, Gan-Or Z, Alcalay RN, Blauwendraat C, International Parkinson's Disease Genomics Consortium (IPDGC) PMID: 31769092 Classification of GBA Variants and Their Effects in Synucleinopathies. Movement disorders : official journal of the Movement Disorder Society 2019
  35. Shao Z, Noh H, Bin Kim W, Ni P, Nguyen C, Cote SE, Noyes E, Zhao J, Parsons T, Park JM, Zheng K, Park JJ, Coyle JT, Weinberger DR, Straub RE, Berman KF, Apud J, Ongur D, Cohen BM, McPhie DL, Rapoport JL, Perlis RH, Lanz TA, Xi HS, Yin C, Huang W, Hirayama T, Fukuda E, Yagi T, Ghosh S, Eggan KC, Kim HY, Eisenberg LM, Moghadam AA, Stanton PK, Cho JH, Chung S PMID: 30664768 Dysregulated protocadherin-pathway activity as an intrinsic defect in induced pluripotent stem cell-derived cortical interneurons from subjects with schizophrenia. Nature neuroscience 2019
  36. Vagnozzi AN, Li JG, Chiu J, Razmpour R, Warfield R, Ramirez SH, Praticò D PMID: 31289348 VPS35 regulates tau phosphorylation and neuropathology in tauopathy. Molecular psychiatry 2019
  37. van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E, DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank), EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB), Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kawalia A, Dalmasso MC, Boada M, Zettl UK, van Schoor NM, Beekman M, Allen M, Masliah E, de Munain AL, Pantelyat A, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Knopman D, Rademakers R, Lemstra AW, Pijnenburg YAL, Scheltens P, Gasser T, Chinnery PF, Hemmer B, Huisman MA, Troncoso J, Moreno F, Nohr EA, Sørensen TIA, Heutink P, Sánchez-Juan P, Posthuma D, GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Clarimó n J, Christensen K, Ertekin-Taner N, Scholz SW, Ramirez A, Ruiz A, Slagboom E, van der Flier WM, Holstege H PMID: 31131421 A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity. Acta neuropathologica 2019
  38. Velmeshev D, Schirmer L, Jung D, Haeussler M, Perez Y, Mayer S, Bhaduri A, Goyal N, Rowitch DH, Kriegstein AR PMID: 31097668 Single-cell genomics identifies cell type-specific molecular changes in autism. Science (New York, N.Y.) 2019
  39. Wang C, Schroeder FA, Gilbert TM, Hooker JM, Wey HY, Zürcher NR, Bhanot A, Catanese MC, Tseng CJ, Di Biase MA, Lyall AE, Hightower BG, Parmar AJ, Wu CJ, Hibert ML, Kim M, Mahmood U, Stufflebeam SM, Roffman JL, Holt DJ, Greve DN, Pasternak O, Kubicki M PMID: 31270332 Neuroepigenetic signatures of age and sex in the living human brain. Nature communications 2019
  40. Wang C, Zhao F, Shen K, Wang W, Siedlak SL, Lee HG, Phelix CF, Perry G, Shen L, Tang B, Yan R, Zhu X PMID: 30515907 The sterol regulatory element-binding protein 2 is dysregulated by tau alterations in Alzheimer disease. Brain pathology (Zurich, Switzerland) 2019
  41. Wang J, Colleaux L, Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A PMID: 30620337 Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. The Journal of clinical investigation 2019
  42. Wang X, Huang F, Wang M, Liu R, Wang JZ, Schadt E, Haroutunian V, Katsel P, Zhang B PMID: 30321504 CDT2-controlled cell cycle reentry regulates the pathogenesis of Alzheimer's disease. Alzheimer's & dementia : the journal of the Alzheimer's Association 2019
  43. Wang X, Wang W, Wang ZJ, Zhong P, Ma K, Yan Z, Qin L, Tan T, Rapanelli M, Frick L, Qu J PMID: 31455858 Behavioral, circuitry, and molecular aberrations by region-specific deficiency of the high-risk autism gene Cul3. Molecular psychiatry 2019
  44. Wang ZJ, Zhong P, Ma K, Seo JS, Yang F, Hu Z, Zhang F, Lin L, Wang J, Liu T, Matas E, Greengard P, Yan Z PMID: 30659288 Amelioration of autism-like social deficits by targeting histone methyltransferases EHMT1/2 in Shank3-deficient mice. Molecular psychiatry 2019
  45. Wellman RJ, Cho SB, Singh P, Tune M, Pardo CA, Comi AM, BVMC Sturge–Weber syndrome Project Workgroup PMID: 30112971 Gαq and hyper-phosphorylated ERK expression in Sturge-Weber syndrome leptomeningeal blood vessel endothelial cells. Vascular medicine (London, England) 2019
  46. Wood PL PMID: 31434624 Targeted lipidomics and metabolomics evaluations of cortical neuronal stress in schizophrenia. Schizophrenia research 2019
  47. Zhu X, Jiang S, Shao C, Tang F, Wang W PMID: 30767411 Dynamin-like protein 1 cleavage by calpain in Alzheimer's disease. Aging cell 2019
  48. Zhu X, Liu Y, Liu J, Fujioka H, Ma X, Chen S PMID: 31767755 DJ-1 regulates the integrity and function of ER-mitochondria association through interaction with IP3R3-Grp75-VDAC1. Proceedings of the National Academy of Sciences of the United States of America 2019

NBB 2018
  1. Aberg KA, Dean B, Shabalin AA, Chan RF, Han LKM, Zhao M, van Grootheest G, Xie LY, Milaneschi Y, Clark SL, Turecki G, Penninx BWJH, van den Oord EJCG PMID: 30242228 Methylome-wide association findings for major depressive disorder overlap in blood and brain and replicate in independent brain samples. Molecular psychiatry 2018
  2. Aberg KA, Dean B, Shabalin AA, Chan RF, Han LKM, Zhao M, Xie LY, Milaneschi Y, Clark SL, Penninx BWJH, van den Oord EJCG, Aghajani M, Hattab MW, Kumar G, Jansen R PMID: 29656664 Epigenetic Aging in Major Depressive Disorder. The American journal of psychiatry 2018
  3. Aronica E, Nguyen LS, Fregeac J, Bole-Feysot C, Cagnard N, Iyer A, Anink J, Alibeu O, Nitschke P, Colleaux L PMID: 29951184 Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders. Molecular autism 2018
  4. Avino TA, Barger N, Vargas MV, Carlson EL, Amaral DG, Bauman MD, Schumann CM PMID: 29559529 Neuron numbers increase in the human amygdala from birth to adulthood, but not in autism. Proceedings of the National Academy of Sciences of the United States of America 2018
  5. Belousov AB, Nishimune H, Denisova JV, Fontes JD PMID: 29246791 A potential role for neuronal connexin 36 in the pathogenesis of amyotrophic lateral sclerosis. Neuroscience letters 2018
  6. Bochukova EG, Lawler K, Croizier S, Keogh JM, Patel N, Strohbehn G, Lo KK, Humphrey J, Hokken-Koelega A, Damen L, Donze S, Bouret SG, Plagnol V, Farooqi IS PMID: 29590610 A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome. Cell reports 2018
  7. Chen SR, Chen H, Li L, Pan HL, Chen J, Xie JD, Sirrieh RE, MacLean DM, Zhang Y, Zhou MH, Jayaraman V PMID: 29490268 The α2δ-1-NMDA Receptor Complex Is Critically Involved in Neuropathic Pain Development and Gabapentin Therapeutic Actions. Cell reports 2018
  8. Chevalier A, Hogan D, Akgoc Z, Schneider JS, Seyfried TN, Choi H PMID: 29932343 Sex-Related Abnormalities in Substantia Nigra Lipids in Parkinson's Disease. ASN neuro 2018
  9. Coletti AM, Singh D, Kumar S, Shafin TN, Briody PJ, Babbitt BF, Pan D, Norton ES, Brown EC, Kahle KT, Del Bigio MR, Conover JC PMID: 30237244 Characterization of the ventricular-subventricular stem cell niche during human brain development. Development (Cambridge, England) 2018
  10. Freeman SM, Palumbo MC, Lawrence RH, Smith AL, Goodman MM, Bales KL PMID: 30514927 Effect of age and autism spectrum disorder on oxytocin receptor density in the human basal forebrain and midbrain. Translational psychiatry 2018
  11. Gogliotti RG, Fisher NM, Stansley BJ, Jones CK, Lindsley CW, Conn PJ, Niswender CM PMID: 29523700 Total RNA Sequencing of Rett Syndrome Autopsy Samples Identifies the M4 Muscarinic Receptor as a Novel Therapeutic Target. The Journal of pharmacology and experimental therapeutics 2018
  12. Haroutunian V, Katsel P, Beeri MS, Gama-Sosa MA, Roussos P, Gandy S, Khan S PMID: 30383799 Parahippocampal gyrus expression of endothelial and insulin receptor signaling pathway genes is modulated by Alzheimer's disease and normalized by treatment with anti-diabetic agents. PloS one 2018
  13. Haroutunian V, Katsel P, Khan S, Fam P, Tan W, Yang C, Jouroukhin Y, Rudchenko S, Pletnikov MV PMID: 28981898 Overexpression of Truncated Human DISC1 Induces Appearance of Hindbrain Oligodendroglia in the Forebrain During Development. Schizophrenia bulletin 2018
  14. Hrvoj-Mihic B, Groeniger KM, Halgren E, Hanson KL, Lew CH, Bellugi U, Semendeferi K PMID: 29090517 Increased glia density in the caudate nucleus in williams syndrome: Implications for frontostriatal dysfunction in autism. Developmental neurobiology 2018
  15. Jackson TC, Kotermanski SE, Kochanek PM PMID: 30399610 Infants Uniquely Express High Levels of RBM3 and Other Cold-Adaptive Neuroprotectant Proteins in the Human Brain. Developmental neuroscience 2018
  16. Jang Y, Lee ST, Bae JY, Kim TJ, Jun JS, Moon J, Jung KH, Park KI, Irani SR, Chu K, Lee SK PMID: 30253786 LGI1 expression and human brain asymmetry: insights from patients with LGI1-antibody encephalitis. Journal of neuroinflammation 2018
  17. Keller S, Punzo D, Cuomo M, Affinito O, Coretti L, Sacchi S, Florio E, Lembo F, Carella M, Copetti M, Cocozza S, Balu DT, Errico F, Usiello A, Chiariotti L PMID: 29976992 DNA methylation landscape of the genes regulating D-serine and D-aspartate metabolism in post-mortem brain from controls and subjects with schizophrenia. Scientific reports 2018
  18. Kia DA, Sabir MS, Ahmed S, Trinh J, Bandres-Ciga S, International Parkinson's Disease Genomics Consortium PMID: 30507383 LRP10 in α-synucleinopathies. The Lancet. Neurology 2018
  19. Kim W, Ma L, Lomoio S, Willen R, Lombardo S, Dong J, Haydon PG, Tesco G PMID: 29391027 BACE1 elevation engendered by GGA3 deletion increases β-amyloid pathology in association with APP elevation and decreased CHL1 processing in 5XFAD mice. Molecular neurodegeneration 2018
  20. Kumar S, Vijayan M, Yin X, Zafer D, Chanana V, Cengiz P, Reddy PH PMID: 29701837 Identification of novel circulatory microRNA signatures linked to patients with ischemic stroke. Human molecular genetics 2018
  21. Lee J, Hwang I, Oh H, Santo E, Kim DY, Chen JW, Bronson RT, Locasale JW, Na Y, Reed S, Toth M, Yu WH, Muller FL, Paik J PMID: 29178390 FOXO protects against age-progressive axonal degeneration. Aging cell 2018
  22. Louis ED, Kuo SH, Vonsattel JG, Faust PL, Tate WJ, Kelly GC, Gutierrez J, Cortes EP PMID: 28791574 Heterotopic Purkinje Cells: a Comparative Postmortem Study of Essential Tremor and Spinocerebellar Ataxias 1, 2, 3, and 6. Cerebellum (London, England) 2018
  23. Ma H, Chen SR, Chen H, Li L, Li DP, Zhou JJ, Pan HL PMID: 29921713 α2δ-1 Is Essential for Sympathetic Output and NMDA Receptor Activity Potentiated by Angiotensin II in the Hypothalamus. The Journal of neuroscience : the official journal of the Society for Neuroscience 2018
  24. Maier W, Posthuma D, Shen L, Yang J, Li Y, Perlis RH, Xi HS, Zhang F, Milaneschi Y, Penninx BWJH, Jansen R, Hu M, Sullivan PF, Purcell SM, Domenici E, Pedersen NL, Lu L, Liu X, Giusti-Rodríguez P, Jin F, Bryois J, Wray NR, Ripke S, Mattheisen M, Trzaskowski M, Byrne EM, Abdellaoui A, Adams MJ, Agerbo E, Air TM, Andlauer TMF, Bacanu SA, Bækvad-Hansen M, Beekman AFT, Bigdeli TB, Binder EB, Blackwood DRH, Buttenschøn HN, Bybjerg-Grauholm J, Cai N, Castelao E, Christensen JH, Clarke TK, Coleman JIR, Colodro-Conde L, Couvy-Duchesne B, Craddock N, Crawford GE, Crowley CA, Dashti HS, Davies G, Deary IJ, Degenhardt F, Derks EM, Direk N, Dolan CV, Dunn EC, Eley TC, Eriksson N, Escott-Price V, Kiadeh FHF, Finucane HK, Forstner AJ, Frank J, Gaspar HA, Gill M, Goes FS, Gordon SD, Grove J, Hall LS, Hannon E, Hansen CS, Hansen TF, Herms S, Hickie IB, Hoffmann P, Homuth G, Horn C, Hottenga JJ, Hougaard DM, Hyde CL, Ising M, Jorgenson E, Knowles JA, Kohane IS, Kraft J, Kretzschmar WW, Krogh J, Kutalik Z, Lane JM, Lind PA, MacIntyre DJ, MacKinnon DF, Maier RM, Marchini J, Mbarek H, McGrath P, McGuffin P, Medland SE, Mehta D, Middeldorp CM, Mihailov E, Milani L, Mill J, Mondimore FM, Montgomery GW, Mostafavi S, Mullins N, Nauck M, Ng B, Nivard MG, Nyholt DR, O'Reilly PF, Oskarsson H, Owen MJ, Painter JN, Pedersen CB, Pedersen MG, Peterson RE, Pettersson E, Peyrot WJ, Pistis G, Quiroz JA, Qvist P, Rice JP, Riley BP, Rivera M, Saeed Mirza S, Saxena R, Schoevers R, Schulte EC, Shi J, Shyn SI, Sigurdsson E, Sinnamon GBC, Smit JH, Smith DJ, Stefansson H, Steinberg S, Stockmeier CA, Streit F, Strohmaier J, Tansey KE, Teismann H, Teumer A, Thompson W, Thomson PA, Thorgeirsson TE, Tian C, Traylor M, Treutlein J, Trubetskoy V, Uitterlinden AG, Umbricht D, Van der Auwera S, van Hemert AM, Viktorin A, Visscher PM, Wang Y, Webb BT, Weinsheimer SM, Wellmann J, Willemsen G, Witt SH, Wu Y, eQTLGen, 23andMe, Arolt V, Baune BT, Berger K, Boomsma DI, Cichon S, Dannlowski U, de Geus ECJ, DePaulo JR, Domschke K, Esko T, Grabe HJ, Hamilton SP, Hayward C, Heath AC, Hinds DA, Kendler KS, Kloiber S, Lewis G, Li QS, Lucae S, Madden PFA, Magnusson PK, Martin NG, McIntosh AM, Metspalu A, Mors O, Mortensen PB, Müller-Myhsok B, Nordentoft M, Nöthen MM, O'Donovan MC, Paciga SA, Porteous DJ, Potash JB, Preisig M, Rietschel M, Schaefer C, Schulze TG, Smoller JW, Stefansson K, Tiemeier H, Uher R, Völzke H, Weissman MM, Werge T, Winslow AR, Lewis CM, Levinson DF, Breen G, Børglum AD, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium PMID: 29700475 Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nature genetics 2018
  25. Matas E, Yan Z, Qin L, Wei J, Wang ZJ, Ma K, Hu Z PMID: 29531362 Social deficits in Shank3-deficient mouse models of autism are rescued by histone deacetylase (HDAC) inhibition. Nature neuroscience 2018
  26. Moloney EB, Moskites A, Ferrari EJ, Isacson O, Hallett PJ PMID: 30149180 The glycoprotein GPNMB is selectively elevated in the substantia nigra of Parkinson's disease patients and increases after lysosomal stress. Neurobiology of disease 2018
  27. Parras A, Anta H, Santos-Galindo M, Swarup V, Elorza A, Nieto-González JL, Picó S, Hernández IH, Díaz-Hernández JI, Belloc E, Rodolosse A, Parikshak NN, Peñagarikano O, Fernández-Chacó n R, Irimia M, Navarro P, Geschwind DH, Méndez R, Lucas JJ PMID: 30111840 Autism-like phenotype and risk gene mRNA deadenylation by CPEB4 mis-splicing. Nature 2018
  28. Pereira GC, Sanchez L, Batra R, Ostrow LW, Ravits J, Heras SR, Mayer J, García-Pérez JL, Goodier JL, Harz C, Maldener E, Meese E PMID: 30068350 Transcriptional profiling of HERV-K(HML-2) in amyotrophic lateral sclerosis and potential implications for expression of HML-2 proteins. Molecular neurodegeneration 2018
  29. Pereira GC, Sanchez L, Schaughency PM, Rubio-Roldán A, Choi JA, Planet E, Batra R, Turelli P, Trono D, Ostrow LW, Ravits J, Kazazian HH, Wheelan SJ, Heras SR, Mayer J, García-Pérez JL, Goodier JL PMID: 30564290 Properties of LINE-1 proteins and repeat element expression in the context of amyotrophic lateral sclerosis. Mobile DNA 2018
  30. Perl D, Iacono D, Lee P, Hallett M PMID: 30637269 Possible Post-Traumatic Focal Dystonia Associated with Tau Pathology Localized to Putamen-Globus Pallidus. Movement disorders clinical practice 2018
  31. Ruffolo G, Cifelli P, Roseti C, Thom M, van Vliet EA, Limatola C, Aronica E, Palma E PMID: 30306542 A novel GABAergic dysfunction in human Dravet syndrome. Epilepsia 2018
  32. Schlüter A, Sandoval J, Díaz-Lagares A, Fourcade S, Casaccia P, Esteller M, Pujol A, Ruiz M PMID: 29476661 Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation. Brain pathology (Zurich, Switzerland) 2018
  33. Schneider JS PMID: 29902255 Altered expression of genes involved in ganglioside biosynthesis in substantia nigra neurons in Parkinson's disease. PloS one 2018
  34. Schultz ML, Krus KL, Kaushik S, Dang D, Chopra R, Qi L, Shakkottai VG, Cuervo AM, Lieberman AP PMID: 30202070 Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD. Nature communications 2018
  35. Song JHT, Lowe CB, Kingsley DM PMID: 30100087 Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia. American journal of human genetics 2018
  36. St-Amour I, Turgeon A, Goupil C, Planel E, Hébert SS PMID: 29134321 Co-occurrence of mixed proteinopathies in late-stage Huntington's disease. Acta neuropathologica 2018
  37. Sutton LP, Orlandi C, Song C, Oh WC, Muntean BS, Xie K, Filippini A, Xie X, Satterfield R, Yaeger JDW, Renner KJ, Young SM Jr, Xu B, Kwon H, Martemyanov KA PMID: 29419376 Orphan receptor GPR158 controls stress-induced depression. eLife 2018
  38. Taghibiglou C, Sekar S PMID: 29288045 Elevated nuclear phosphatase and tensin homolog (PTEN) and altered insulin signaling in substantia nigral region of patients with Parkinson's disease. Neuroscience letters 2018
  39. Tebbenkamp ATN, Varela L, Choi J, Paredes MI, Giani AM, Song JE, Sestan-Pesa M, Franjic D, Sousa AMM, Liu ZW, Li M, Bichsel C, Koch M, Szigeti-Buck K, Liu F, Li Z, Kawasawa YI, Paspalas CD, Mineur YS, Prontera P, Merla G, Picciotto MR, Arnsten AFT, Horvath TL, Sestan N PMID: 30318146 The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development. Cell 2018
  40. Wang X, Siedlak SL, Perry G, Wang L, Gao J, Liu J, Torres S, Fujioka H, Huntley ML, Jiang Y, Ji H, Yan T, Harland M, Termsarasab P, Zeng S, Jiang Z, Liang J, Hoppel C, Zhang C, Li H PMID: 30017354 Mitofusin 2 Regulates Axonal Transport of Calpastatin to Prevent Neuromuscular Synaptic Elimination in Skeletal Muscles. Cell metabolism 2018
  41. Wei Y, Shin MR, Sesti F PMID: 30050035 Oxidation of KCNB1 channels in the human brain and in mouse model of Alzheimer's disease. Cell death & disease 2018
  42. White K, Yang P, Farshori A, Li L, Medina AE, Zielke HR PMID: 29498539 Effect of Postmortem Interval and Years in Storage on RNA Quality of Tissue at a Repository of the NIH NeuroBioBank. Biopreservation and biobanking 2018
  43. Wilder L, Hanson KL, Lew CH, Bellugi U, Semendeferi K PMID: 30501059 Decreased Neuron Density and Increased Glia Density in the Ventromedial Prefrontal Cortex (Brodmann Area 25) in Williams Syndrome. Brain sciences 2018
  44. Yang P, Lodato MA, Rodin RE, Bohrson CL, Coulter ME, Barton AR, Kwon M, Sherman MA, Vitzthum CM, Luquette LJ, Yandava CN, Chittenden TW, Hatem NE, Ryu SC, Woodworth MB, Park PJ, Walsh CA PMID: 29217584 Aging and neurodegeneration are associated with increased mutations in single human neurons. Science (New York, N.Y.) 2018
  45. Zhang B, Victor MB, Richner M, Olsen HE, Lee SW, Monteys AM, Ma C, Huh CJ, Davidson BL, Yang XW, Yoo AS PMID: 29403030 Striatal neurons directly converted from Huntington's disease patient fibroblasts recapitulate age-associated disease phenotypes. Nature neuroscience 2018
  46. Zhang Z, Jiang Y, Zhu D, Osuka S, Reichert ZR, Yang L, Kanemura Y, You S, Zhang H, Devi NS, Bhattacharya D, Takano S, Gillespie GY, Macdonald T, Tan C, Nishikawa R, Nelson WG, Olson JJ, Van Meir EG PMID: 29894688 BAI1 Suppresses Medulloblastoma Formation by Protecting p53 from Mdm2-Mediated Degradation. Cancer cell 2018

NBB 2017
  1. Alves M, Gomez-Villafuertes R, Delanty N, Farrell MA, O'Brien DF, Miras-Portugal MT, Hernandez MD, Henshall DC, Engel T PMID: 28733972 Expression and function of the metabotropic purinergic P2Y receptor family in experimental seizure models and patients with drug-refractory epilepsy. Epilepsia 2017
  2. Basu S, Kim YS, Guhathakurta S, Evangelista BA, Ghosh S PMID: 28173842 Hypomethylation of intron1 of α-synuclein gene does not correlate with Parkinson's disease. Molecular brain 2017
  3. Bethea CL, Christian FL, Reddy AP PMID: 27662311 How Studies of the Serotonin System in Macaque Models of Menopause Relate to Alzheimer's Disease1. Journal of Alzheimer's disease : JAD 2017
  4. Bethea CL, Mueller K, Kohama SG, Urbanski HF, Reddy AP PMID: 28628658 Effects of obesogenic diet and estradiol on dorsal raphe gene expression in old female macaques. PloS one 2017
  5. Bredesen DE, Rao RV PMID: 28236613 Ayurvedic Profiling of Alzheimer's Disease. Alternative therapies in health and medicine 2017
  6. Cardenas AM, Sarlls JE, Kwan JY, Bageac D, Gala ZS, Danielian LE, Ray-Chaudhury A, Wang HW, Miller KL, Foxley S, Jbabdi S, Welsh RC, Floeter MK PMID: 28529876 Pathology of callosal damage in ALS: An ex-vivo, 7 T diffusion tensor MRI study. NeuroImage. Clinical 2017
  7. Chevallier OP, Kumar P, Türko Gcaron Lu O, Bahado-Singh RO, Graham SF PMID: 27608295 Metabolomic profiling of brain from infants who died from Sudden Infant Death Syndrome reveals novel predictive biomarkers. Journal of perinatology : official journal of the California Perinatal Association 2017
  8. Delanty N, Farrell MA, O'Brien DF, Henshall DC, Bauer S, Rosenow F, Reschke CR, Silva LF, Norwood BA, Senthilkumar K, Morris G, Sanz-Rodriguez A, Conroy RM, Costard L, Neubert V, Schorge S, Pasterkamp RJ PMID: 28325299 Potent Anti-seizure Effects of Locked Nucleic Acid Antagomirs Targeting miR-134 in Multiple Mouse and Rat Models of Epilepsy. Molecular therapy. Nucleic acids 2017
  9. Delanty N, Farrell MA, O'Brien DF, Henshall DC, Rajman M, Metge F, Fiore R, Khudayberdiev S, Aksoy-Aksel A, Bicker S, Ruedell Reschke C, Raoof R, Brennan GP, Bauer S, Norwood B, Veno MT, Krüger M, Braun T, Kjems J, Rosenow F, Dieterich C, Schratt G PMID: 28487411 A microRNA-129-5p/Rbfox crosstalk coordinates homeostatic downscaling of excitatory synapses. The EMBO journal 2017
  10. Douville RN, Nath A PMID: 29075249 Human Endogenous Retrovirus-K and TDP-43 Expression Bridges ALS and HIV Neuropathology. Frontiers in microbiology 2017
  11. García-González D, Khodosevich K, Watanabe Y, Rollenhagen A, Lübke JHR, Monyer H PMID: 28472655 Serotonergic Projections Govern Postnatal Neuroblast Migration. Neuron 2017
  12. Gogliotti RG, Fisher NM, Jones CK, Lindsley CW, Conn PJ, Niswender CM, Senter RK, Adams J, Zamorano R, Walker AG, Blobaum AL, Engers DW, Hopkins CR, Daniels JS, Xiang Z PMID: 28814546 mGlu7 potentiation rescues cognitive, social, and respiratory phenotypes in a mouse model of Rett syndrome. Science translational medicine 2017
  13. Gregori L, Serer AR, McDowell KL, Cervenak J, Asher DM PMID: 28072756 Rapid Testing for Creutzfeldt-Jakob Disease in Donors of Cornea. Transplantation 2017
  14. Head E, Tramutola A, Di Domenico F, Barone E, Arena A, Giorgi A, di Francesco L, Schininà  ME, Coccia R, Butterfield DA, Perluigi M PMID: 27627691 Polyubiquitinylation Profile in Down Syndrome Brain Before and After the Development of Alzheimer Neuropathology. Antioxidants & redox signaling 2017
  15. Hsu YT, Chang YG, Chang CP, Siew JJ, Chen HM, Tsai CH, Chern Y PMID: 28782830 Altered behavioral responses to gamma-aminobutyric acid pharmacological agents in a mouse model of Huntington's disease. Movement disorders : official journal of the Movement Disorder Society 2017
  16. Je G, Croop B, Basu S, Tang J, Han KY, Kim YS PMID: 29172450 Endogenous Alpha-Synuclein Protein Analysis from Human Brain Tissues Using Single-Molecule Pull-Down Assay. Analytical chemistry 2017
  17. Jenkinson G, Feinberg AP, Pujadas E, Goutsias J PMID: 28346445 Potential energy landscapes identify the information-theoretic nature of the epigenome. Nature genetics 2017
  18. Kumar S, Tonk S, Kandimalla R, Vijayan M, Kuruva CS, Reddy PH, Reddy AP PMID: 27524239 A critical evaluation of neuroprotective and neurodegenerative MicroRNAs in Alzheimer's disease. Biochemical and biophysical research communications 2017
  19. Kumar S, Vijayan M, Yin X, Reddy PH, Kuruva CS, Manczak M, Reddy AP, Kandimalla R, Williams J, Smith F, Bhatti JS, Wang R PMID: 28253983 MicroRNAs, Aging, Cellular Senescence, and Alzheimer's Disease. Progress in molecular biology and translational science 2017
  20. Lew CH, Bellugi U, Semendeferi K, Brown C PMID: 27520580 Neuron density is decreased in the prefrontal cortex in Williams syndrome. Autism research : official journal of the International Society for Autism Research 2017
  21. Lin L, Zhou ZD, Tan EK, Zeng L, Lim KL, Chen ZC, Zhang W, Chua LL, Chai C, Li R, Cao Z, Angeles DC, Stanton LW, Peng JH PMID: 28720718 Phosphorylation of amyloid precursor protein by mutant LRRK2 promotes AICD activity and neurotoxicity in Parkinson's disease. Science signaling 2017
  22. Lott IT, Doran E, Head E, LeVine H 3rd, Spielmann HP, Matveev S, Cauvi FM, Murphy MP, Beckett TL, McCarty K, Schmitt F PMID: 28385551 Down syndrome: age-dependence of PiB binding in postmortem frontal cortex across the lifespan. Neurobiology of aging 2017
  23. Louis Sam Titus ASC, Yusuff T, Cassar M, Thomas E, Kretzschmar D, D'Mello SR PMID: 28550168 Reduced Expression of Foxp1 as a Contributing Factor in Huntington's Disease. The Journal of neuroscience : the official journal of the Society for Neuroscience 2017
  24. Masliah E, Liu T, Zhu B, Jiang L, Huang T, Zhao Y, Zhong Y, Li X, Campos A, Pomeroy K, Zhang D, Xu H PMID: 29133892 ER-associated degradation regulates Alzheimer's amyloid pathology and memory function by modulating γ-secretase activity. Nature communications 2017
  25. Morton PD, Korotcova L, Lewis BK, Bhuvanendran S, Ramachandra SD, Zurakowski D, Zhang J, Mori S, Frank JA, Jonas RA, Gallo V, Ishibashi N PMID: 28123074 Abnormal neurogenesis and cortical growth in congenital heart disease. Science translational medicine 2017
  26. Qiu L, Liao MC, Chen AK, Wei S, Xie S, Reuveny S, Zhou ZD, Hunziker W, Tan EK, Oh SKW, Zeng L PMID: 28650520 Immature Midbrain Dopaminergic Neurons Derived from Floor-Plate Method Improve Cell Transplantation Therapy Efficacy for Parkinson's Disease. Stem cells translational medicine 2017
  27. Reddy PH, Reddy AP PMID: 28253985 Mitochondria-Targeted Molecules as Potential Drugs to Treat Patients With Alzheimer's Disease. Progress in molecular biology and translational science 2017
  28. Reddy PH, Yin X, Kuruva CS, Manczak M, Ogunmokun G, Reddy AP PMID: 28854701 Aqua-soluble DDQ reduces the levels of Drp1 and Aβ and inhibits abnormal interactions between Aβ and Drp1 and protects Alzheimer's disease neurons from Aβ- and Drp1-induced mitochondrial and synaptic toxicities. Human molecular genetics 2017
  29. Schroeder FA, Gilbert TM, Feng N, Taillon BD, Volkow ND, Innis RB, Hooker JM, Lipska BK PMID: 27959513 Expression of HDAC2 but Not HDAC1 Transcript Is Reduced in Dorsolateral Prefrontal Cortex of Patients with Schizophrenia. ACS chemical neuroscience 2017
  30. Sciacca G, Cicchetti F PMID: 29171910 Mutant huntingtin protein expression and blood-spinal cord barrier dysfunction in huntington disease. Annals of neurology 2017
  31. Senthil G, Dutka T, Bingaman L, Lehner T PMID: 28322284 Genomic resources for the study of neuropsychiatric disorders. Molecular psychiatry 2017
  32. Shackleton B, Crawford F, Bachmeier C PMID: 28164773 Apolipoprotein E-mediated Modulation of ADAM10 in Alzheimer's Disease. Current Alzheimer research 2017
  33. Takata A, Matsumoto N, Kato T PMID: 28240266 Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci. Nature communications 2017
  34. Voit A, Patel V, Pachon R, Shah V, Bakhutma M, Kohlbrenner E, McArdle JJ, Dell'Italia LJ, Mendell JR, Xie LH, Hajjar RJ, Duan D, Fraidenraich D, Babu GJ PMID: 29051551 Reducing sarcolipin expression mitigates Duchenne muscular dystrophy and associated cardiomyopathy in mice. Nature communications 2017
  35. Wiseman JT, Markota M, Ehrenfeld L, Berretta S, Pantazopoulos H PMID: 27259817 Decreased Numbers of Somatostatin-Expressing Neurons in the Amygdala of Subjects With Bipolar Disorder or Schizophrenia: Relationship to Circadian Rhythms. Biological psychiatry 2017
  36. Wu KC, Liou HH, Kao YH, Lee CY, Lin CJ PMID: 28476637 The critical role of Nramp1 in degrading α-synuclein oligomers in microglia under iron overload condition. Neurobiology of disease 2017
  37. Zhao Y, Xie S, Tan EK, Tio M, Wen R, Lim YL, Zukifli ZHB, Ho P, Zhou Z, Koh TW PMID: 28432706 Varied pathological and therapeutic response effects associated with CHCHD2 mutant and risk variants. Human mutation 2017
  38. Zhou W, Martin KR, Bowman MJ, Shih J, Au KS, Dittenhafer-Reed KE, Sisson KA, Koeman J, Weisenberger DJ, Cottingham SL, DeRoos ST, Devinsky O, Winn ME, Cherniack AD, Shen H, Northrup H, Krueger DA, MacKeigan JP PMID: 28643795 The genomic landscape of tuberous sclerosis complex. Nature communications 2017
  39. Zhou ZD, Tan EK, Xiao B, Deng X, Lim GGY, Zhou W, Saw WT, Lim KL PMID: 28433685 p62-Mediated mitochondrial clustering attenuates apoptosis induced by mitochondrial depolarization. Biochimica et biophysica acta. Molecular cell research 2017

NBB 2016
  1. De Filippis L, Halikere A, McGowan H, Moore JC, Tischfield JA, Hart RP, Pang ZP PMID: 27160314 Ethanol-mediated activation of the NLRP3 inflammasome in iPS cells and iPS cells-derived neural progenitor cells. Molecular brain 2016
  2. Disatnik MH, Joshi AU, Saw NL, Shamloo M, Leavitt BR, Qi X, Mochly-Rosen D PMID: 27821553 Potential biomarkers to follow the progression and treatment response of Huntington's disease. The Journal of experimental medicine 2016
  3. Ferguson-Parry J, Douville RN, Manghera M PMID: 27370226 TDP-43 regulates endogenous retrovirus-K viral protein accumulation. Neurobiology of disease 2016
  4. Ferguson-Parry J, Lin R, Douville RN, Manghera M PMID: 27512062 NF-κB and IRF1 Induce Endogenous Retrovirus K Expression via Interferon-Stimulated Response Elements in Its 5' Long Terminal Repeat. Journal of virology 2016
  5. Fiorentino M, Sapone A, Senger S, Camhi SS, Kadzielski SM, Buie TM, Kelly DL, Cascella N, Fasano A PMID: 27957319 Blood-brain barrier and intestinal epithelial barrier alterations in autism spectrum disorders. Molecular autism 2016
  6. Fujioka H, Joshi AU, Qi X, Mochly-Rosen D, Guo X, Sun X, Hu D, Wang YJ, Vyas R, Chakrapani S, Luo Y PMID: 27561680 VCP recruitment to mitochondria causes mitophagy impairment and neurodegeneration in models of Huntington's disease. Nature communications 2016
  7. Gogliotti RG, Jones CK, Lindsley CW, Conn PJ, Niswender CM, Senter RK, Zamorano R, Daniels JS, Rook JM, Ghoshal A, Malosh C, Stauffer SR, Bridges TM, Bartolome JM PMID: 26936821 mGlu5 positive allosteric modulation normalizes synaptic plasticity defects and motor phenotypes in a mouse model of Rett syndrome. Human molecular genetics 2016
  8. Head E, Tramutola A, Di Domenico F, Barone E, Arena A, Butterfield DA, Perluigi M, Pupo G, Lanzillotta C, Brokeaart D, Blarzino C PMID: 26967221 Activation of p53 in Down Syndrome and in the Ts65Dn Mouse Brain is Associated with a Pro-Apoptotic Phenotype. Journal of Alzheimer's disease : JAD 2016
  9. Hoang ML, Kinde I, Tomasetti C, McMahon KW, Rosenquist TA, Grollman AP, Kinzler KW, Vogelstein B, Papadopoulos N PMID: 27528664 Genome-wide quantification of rare somatic mutations in normal human tissues using massively parallel sequencing. Proceedings of the National Academy of Sciences of the United States of America 2016
  10. Hou S, Han YG, Wang L PMID: 27214567 Hedgehog signaling promotes basal progenitor expansion and the growth and folding of the neocortex. Nature neuroscience 2016
  11. Jarvela TS, Lam HA, Helwig M, Lorenzen N, Otzen DE, McLean PJ, Maidment NT, Lindberg I PMID: 27457957 The neural chaperone proSAAS blocks α-synuclein fibrillation and neurotoxicity. Proceedings of the National Academy of Sciences of the United States of America 2016
  12. Krishnaswami SR, Grindberg RV, Novotny M, Venepally P, Lacar B, Bhutani K, Linker SB, Pham S, Erwin JA, Miller JA, Hodge R, McCarthy JK, Kelder M, McCorrison J, Aevermann BD, Fuertes FD, Scheuermann RH, Lee J, Lein ES, Schork N, McConnell MJ, Gage FH, Lasken RS PMID: 26890679 Using single nuclei for RNA-seq to capture the transcriptome of postmortem neurons. Nature protocols 2016
  13. Lahiri DK, Ray B, Sokol DK, Maloney B PMID: 27212113 Finding novel distinctions between the sAPPα-mediated anabolic biochemical pathways in Autism Spectrum Disorder and Fragile X Syndrome plasma and brain tissue. Scientific reports 2016
  14. Lewis DA, Haroutunian V, Zhang B, Fullard JF, Roussos P, Lipska BK, Fromer M, Sieberts SK, Johnson JS, Kavanagh DH, Perumal TM, Ruderfer DM, Oh EC, Topol A, Shah HR, Klei LL, Kramer R, Pinto D, GümüÅŸ ZH, Cicek AE, Dang KK, Browne A, Lu C, Xie L, Readhead B, Stahl EA, Xiao J, Parvizi M, Hamamsy T, Wang YC, Mahajan MC, Derry JM, Dudley JT, Hemby SE, Logsdon BA, Talbot K, Raj T, Bennett DA, De Jager PL, Zhu J, Sullivan PF, Chess A, Purcell SM, Shinobu LA, Mangravite LM, Toyoshiba H, Gur RE, Hahn CG, Peters MA, Buxbaum JD, Schadt EE, Hirai K, Roeder K, Brennand KJ, Katsanis N, Domenici E, Devlin B, Sklar P PMID: 27668389 Gene expression elucidates functional impact of polygenic risk for schizophrenia. Nature neuroscience 2016
  15. Li Y, Schmitt AD, Hu M, Jung I, Xu Z, Qiu Y, Tan CL, Lin S, Lin Y, Barr CL, Ren B PMID: 27851967 A Compendium of Chromatin Contact Maps Reveals Spatially Active Regions in the Human Genome. Cell reports 2016
  16. Li Y, Stockton ME, Bhuiyan I, Eisinger BE, Gao Y, Miller JL, Bhattacharyya A, Zhao X PMID: 27122614 MDM2 inhibition rescues neurogenic and cognitive deficits in a mouse model of fragile X syndrome. Science translational medicine 2016
  17. Nair VD, Ge Y PMID: 27369327 Alterations of miRNAs reveal a dysregulated molecular regulatory network in Parkinson's disease striatum. Neuroscience letters 2016
  18. Pacifico R, Fallahi-Sichani M, Davis RL, MacMullen CM, Vick K PMID: 26905414 Novel, primate-specific PDE10A isoform highlights gene expression complexity in human striatum with implications on the molecular pathology of bipolar disorder. Translational psychiatry 2016
  19. Parikshak NN, Geschwind DH, Gandal MJ, Huang J, Won H, de la Torre-Ubieta L, Stein JL, Opland CK, Sutton GJ, Hormozdiari F, Lu D, Lee C, Eskin E, Voineagu I, Ernst J PMID: 27760116 Chromosome conformation elucidates regulatory relationships in developing human brain. Nature 2016
  20. Salem S, De Rossi P, Buggia-Prévot V, Clayton BL, Vasquez JB, van Sanford C, Andrew RJ, Lesnick R, Botté A, Deyts C, Rao E, Rice RC, Parent A, Kar S, Popko B, Pytel P, Estus S, Thinakaran G PMID: 27488240 Predominant expression of Alzheimer's disease-associated BIN1 in mature oligodendrocytes and localization to white matter tracts. Molecular neurodegeneration 2016
  21. Shively SB, Horkayne-Szakaly I, Jones RV, Kelly JP, Armstrong RC, Perl DP PMID: 27291520 Characterisation of interface astroglial scarring in the human brain after blast exposure: a post-mortem case series. The Lancet. Neurology 2016
  22. Swarup V, Parikshak NN, Irimia M, Geschwind DH, Belgard TG, Ramaswami G, Gandal MJ, Hartl C, Leppa V, Ubieta LT, Huang J, Lowe JK, Blencowe BJ, Horvath S PMID: 27919067 Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism. Nature 2016
  23. Tan EK, Angeles DC, Sathiyamoorthy S, Zhou ZD PMID: 27090516 Linking F-box protein 7 and parkin to neuronal degeneration in Parkinson's disease (PD). Molecular brain 2016

NBB 2015
  1. Wang C, Schroeder FA, Gilbert TM, Taillon BD, Hooker JM, Wey HY, Zürcher NR, She A, Bhanot A, Haggarty SJ PMID: 27510902 Insights into neuroepigenetics through human histone deacetylase PET imaging. Science translational medicine 2016
  2. Wang X, Wang W, Zhu X, Liu J, Fujioka H, Hoppel C, Whone AL, Caldwell MA, Cullen PJ PMID: 26618722 Parkinson's disease-associated mutant VPS35 causes mitochondrial dysfunction by recycling DLP1 complexes. Nature medicine 2016
  3. Crawford JD, Chandley MJ, Szebeni K, Szebeni A, Ordway GA PMID: 26000162 NTRK2 expression levels are reduced in laser captured pyramidal neurons from the anterior cingulate cortex in males with autism spectrum disorder. Molecular autism 2015
  4. Crawford JD, Chandley MJ, Szebeni K, Szebeni A, Waters B, Ordway GA PMID: 25846779 Elevated GFAP Protein in Anterior Cingulate Cortical White Matter in Males With Autism Spectrum Disorder. Autism research : official journal of the International Society for Autism Research 2015
  5. Gonzalez JP, Ramachandran J, Contreras JE, Xie LH, Fraidenraich D PMID: 26311238 Selective Connexin43 Inhibition Prevents Isoproterenol-Induced Arrhythmias and Lethality in Muscular Dystrophy Mice. Scientific reports 2015
  6. Gray AL, Hyde TM, Deep-Soboslay A, Kleinman JE, Sodhi MS PMID: 26169973 Sex differences in glutamate receptor gene expression in major depression and suicide. Molecular psychiatry 2015
  7. Helman AM, McCarty KL, Abner EL, Schmitt FA, Head E, Murphy MP, Beckett TL, Wilcock DM, Hurban J, Sudduth TL, Ferrell JC PMID: 26103884 Down syndrome individuals with Alzheimer's disease have a distinct neuroinflammatory phenotype compared to sporadic Alzheimer's disease. Neurobiology of aging 2015
  8. Iacono D, Geraci-Erck M, Peng H, Rabin ML, Kurlan R PMID: 26069855 Reduced Number of Pigmented Neurons in the Substantia Nigra of Dystonia Patients? Findings from Extensive Neuropathologic, Immunohistochemistry, and Quantitative Analyses. Tremor and other hyperkinetic movements (New York, N.Y.) 2015
  9. Li Z, Zhou ZD, Tan EK, Saw WT, Angeles DC, Sathiyamoorthy S, Xie SP, Sing TY, Ng SH, Chua HP, Tang AM, Shaffra F, Wang H, Ho PG, Lai MK, Lim TM PMID: 26310625 F-box protein 7 mutations promote protein aggregation in mitochondria and inhibit mitophagy. Human molecular genetics 2015
  10. Lodato MA, Luquette LJ, Chittenden TW, Woodworth MB, Park PJ, Walsh CA, D'Gama AM, Lee S, Evrony GD, Mehta BK, Karger A, Cai X, Lee E PMID: 26430121 Somatic mutation in single human neurons tracks developmental and transcriptional history. Science (New York, N.Y.) 2015
  11. Patel A, Yamashita N, Ascaño M, Bodmer D, Boehm E, Bodkin-Clarke C, Ryu YK, Kuruvilla R PMID: 26658127 RCAN1 links impaired neurotrophin trafficking to aberrant development of the sympathetic nervous system in Down syndrome. Nature communications 2015
  12. Pochareddy S, Jamuar SS, Reiff RE, Li M, Lam AN, Sestan N, Walsh CA, D'Gama AM PMID: 26637798 Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron 2015
  13. Woltjer RL, Reese LC, Richardson BE, Tran H, Green S, Pham T, Chalupsky M, Gabriel I, Light T, Sanford L, Jeong SY, Hamada J, Schwanemann LK, Rogers C, Gregory A, Hogarth P, Hayflick SJ PMID: 26547561 Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus. Molecular genetics and metabolism 2015
HBTRC (1999-2013)

HBTRC 2013
  1. André, W., Sandt, C., Dumas, P., Djian, P. & Hoffner, G. 2013. PMID: 23458159 Structure of inclusions of Huntington disease brain revealed by synchrotron infrared microspectroscopy: polymorphism and relevance to cytotoxicity. Chem Biol, Anal Chem. 2013 Apr 2;85(7):3765-73
  2. Pearson, B. L., Corley, M. J., Vasconcellos, A., Blanchard, D. C. & Blanchard, R. J. 2013. PMID: 23318464 Heparan sulfate deficiency in postmortem brain tissue from the subventricular zone of the lateral ventricles.  Behav Brain Res, 243:138-45.

HBTRC 2012
  1. Ballester, L. Y., Capo-Velez, C. M., Garcia-Beltran, W. F., Ramos, F. M., Vazquez-Rosa, E., Rios, R., Mercado, J. R., Melendez, R. I. & Lasalde-Dominicci, J. A. 2012. Up-regulation of the neuronal nicotinic receptor alpha7 by HIV glycoprotein 120: potential implications for HIV-associated neurocognitive disorder.  J Biol Chem, 287, 3079-3086.
  2. Benes, F. M. 2012a. GABAergic circuits in schizophrenia: targets for novel antipsychotics?  . In: HOFMANN, F. B. (ed.) Handbook of Experimental Pharmacology213Berlin: Springer. 401-419.
  3. Benes, F. M. 2012b. A new paradigm for understanding gamma-aminobutyric acid cell pathology in schizophrenia? Biol Psychiatry, 72, 712-713.
  4. Berretta, S. 2012. Extracellular matrix abnormalities in schizophrenia.  Neuropharmacology, 62, 1584-1597.
  5. Bliss, L. A., Sams, M. R., Deep-Soboslay, A., Ren-Patterson, R., Jaffe, A. E., Chenoweth, J. G., Jaishankar, A., Kleinman, J. E. & Hyde, T. M. 2012. Use of postmortem human dura mater and scalp for deriving human fibroblast cultures.  PLoS One, 7, e45282.
  6. Chauhan, A., Audhya, T. & Chauhan, V. 2012. Brain region-specific glutathione redox imbalance in autism. Neurochem Res, 37, 1681-1689.
  7. Chow, M. L., Pramparo, T., Winn, M. E., Barnes, C. C., Li, H. R., Weiss, L., Fan, J. B., Murray, S., April, C., Belinson, H., Fu, X. D., Wynshaw-Boris, A., Schork, N. J. & Courchesne, E. 2012. Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages. PLoS Genet, 8, e1002592.
  8. Cohen, O. S., Mccoy, S. Y., Middleton, F. A., Bialosuknia, S., Zhang-James, Y., Liu, L., Tsuang, M. T., Faraone, S. V. & Glatt, S. J. 2012. Transcriptomic analysis of postmortem brain identifies dysregulated splicing events in novel candidate genes for schizophrenia. Schizophr Res, 142, 188-199.
  9. Cortes-Canteli, M., Zamolodchikov, D., Ahn, H. J., Strickland, S. & Norris, E. H. 2012. Fibrinogen and altered hemostasis in Alzheimer's disease. J Alzheimers Dis, 32, 599-608.
  10. Dumitriu, A., Latourelle, J. C., Hadzi, T. C., Pankratz, N., Garza, D., Miller, J. P., Vance, J. M., Foroud, T., Beach, T. G. & Myers, R. H. 2012a. Gene expression profiles in Parkinson disease prefrontal cortex implicate FOXO1 and genes under its transcriptional regulation. PLoS Genet, 8, e1002794.
  11. Dumitriu, A., Moser, C., Hadzi, T. C., Williamson, S. L., Pacheco, C. D., Hendricks, A. E., Latourelle, J. C., Wilk, J. B., Destefano, A. L. & Myers, R. H. 2012b. Postmortem Interval Influences alpha-Synuclein Expression in Parkinson Disease Brain. Parkinsons Dis, 2012, 614212.
  12. Earls, L. R., Fricke, R. G., Yu, J., Berry, R. B., Baldwin, L. T. & Zakharenko, S. S. 2012. Age-dependent microRNA control of synaptic plasticity in 22q11 deletion syndrome and schizophrenia. J Neurosci, 32, 14132-14144.
  13. Fatemi, S. H., Aldinger, K. A., Ashwood, P., Bauman, M. L., Blaha, C. D., Blatt, G. J., Chauhan, A., Chauhan, V., Dager, S. R., Dickson, P. E., Estes, A. M., Goldowitz, D., Heck, D. H., Kemper, T. L., King, B. H., Martin, L. A., Millen, K. J., Mittleman, G., Mosconi, M. W., Persico, A. M., Sweeney, J. A., Webb, S. J. & Welsh, J. P. 2012. Consensus paper: pathological role of the cerebellum in autism. Cerebellum, 11, 777-807.
  14. Folsom, T. D. & Fatemi, S. H. 2012. The involvement of Reelin in neurodevelopmental disorders. NeuropharmacologyIn press.
  15. Gavin, D. P., Sharma, R. P., Chase, K. A., Matrisciano, F., Dong, E. & Guidotti, A. 2012. Growth arrest and DNA-damage-inducible, beta (GADD45b)-mediated DNA demethylation in major psychosis. Neuropsychopharmacology, 37, 531-542.
  16. Ginsberg, M. R., Rubin, R. A., Falcone, T., Ting, A. H. & Natowicz, M. R. 2012. Brain transcriptional and epigenetic associations with autism. PLoS One, 7, e44736.
  17. Gkogkas, C. G., Khoutorsky, A., Ran, I., Rampakakis, E., Nevarko, T., Weatherill, D. B., Vasuta, C., Yee, S., Truitt, M., Dallaire, P., Major, F., Lasko, P., Ruggero, D., Nader, K., Lacaille, J. C. & Sonenberg, N. 2012. Autism-related deficits via dysregulated eIF4E-dependent translational control.  Nature.
  18. Guidotti, A., Dong, E., Gavin, D. P., Veldic, M., Zhao, W., Bhaumik, D. K., Pandey, S. C. & Grayson, D. R. 2012. DNA Methylation/Demethylation Network Expression in Psychotic Patients with a History of Alcohol Abuse. Alcohol Clin Exp Res.
  19. Hadzi, T. C., Hendricks, A. E., Latourelle, J. C., Lunetta, K. L., Cupples, L. A., Gillis, T., Mysore, J. S., Gusella, J. F., Macdonald, M. E., Myers, R. H. & Vonsattel, J. P. 2012. Assessment of cortical and striatal involvement in 523 Huntington disease brains. Neurology, 79, 1708-1715.
  20. Hutsler, J. J. & Avino, T. A. 2012. Sigmoid fits to locate and characterize cortical boundaries in human cerebral cortex. J Neurosci Methods, 212, 242-246.
  21. Ihara, Y., Morishima-Kawashima, M. & Nixon, R. 2012. The ubiquitin-proteasome system and the autophagic-lysosomal system in Alzheimer disease. Cold Spring Harb Perspect Med, 2.
  22. Jacot-Descombes, S., Uppal, N., Wicinski, B., Santos, M., Schmeidler, J., Giannakopoulos, P., Heinsen, H., Schmitz, C. & Hof, P. R. 2012. Decreased pyramidal neuron size in Brodmann areas 44 and 45 in patients with autism. Acta Neuropathol, 124, 67-79.
  23. Kaminsky, Z., Tochigi, M., Jia, P., Pal, M., Mill, J., Kwan, A., Ioshikhes, I., Vincent, J. B., Kennedy, J. L., Strauss, J., Pai, S., Wang, S. C. & Petronis, A. 2012. A multi-tissue analysis identifies HLA complex group 9 gene methylation differences in bipolar disorder. Mol Psychiatry, 17, 728-740.
  24. Kerin, T., Ramanathan, A., Rivas, K., Grepo, N., Coetzee, G. A. & Campbell, D. B. 2012. A noncoding RNA antisense to moesin at 5p14.1 in autism. Sci Transl Med, 4, 128ra140.
  25. Khare, T., Pai, S., Koncevicius, K., Pal, M., Kriukiene, E., Liutkeviciute, Z., Irimia, M., Jia, P., Ptak, C., Xia, M., Tice, R., Tochigi, M., Morera, S., Nazarians, A., Belsham, D., Wong, A. H., Blencowe, B. J., Wang, S. C., Kapranov, P., Kustra, R., Labrie, V., Klimasauskas, S. & Petronis, A. 2012. 5-hmC in the brain is abundant in synaptic genes and shows differences at the exon-intron boundary. Nat Struct Mol Biol, 19, 1037-1043.
  26. Latourelle, J. C., Dumitriu, A., Hadzi, T. C., Beach, T. G. & Myers, R. H. 2012. Evaluation of Parkinson disease risk variants as expression-QTLs. PLoS One, 7, e46199.
  27. Leal, M. C., Surace, E. I., Holgado, M. P., Ferrari, C. C., Tarelli, R., Pitossi, F., Wisniewski, T., Castano, E. M. & Morelli, L. 2012. Notch signaling proteins HES-1 and Hey-1 bind to insulin degrading enzyme (IDE) proximal promoter and repress its transcription and activity: implications for cellular Abeta metabolism. Biochim Biophys Acta, 1823, 227-235.
  28. Lee, J. M., Gillis, T., Mysore, J. S., Ramos, E. M., Myers, R. H., Hayden, M. R., Morrison, P. J., Nance, M., Ross, C. A., Margolis, R. L., Squitieri, F., Griguoli, A., Di Donato, S., Gomez-Tortosa, E., Ayuso, C., Suchowersky, O., Trent, R. J., Mccusker, E., Novelletto, A., Frontali, M., Jones, R., Ashizawa, T., Frank, S., Saint-Hilaire, M. H., Hersch, S. M., Rosas, H. D., Lucente, D., Harrison, M. B., Zanko, A., Abramson, R. K., Marder, K., Sequeiros, J., Macdonald, M. E. & Gusella, J. F. 2012a. Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. Am J Hum Genet, 90, 434-444.
  29. Lee, J. M., Ramos, E. M., Lee, J. H., Gillis, T., Mysore, J. S., Hayden, M. R., Warby, S. C., Morrison, P., Nance, M., Ross, C. A., Margolis, R. L., Squitieri, F., Orobello, S., Di Donato, S., Gomez-Tortosa, E., Ayuso, C., Suchowersky, O., Trent, R. J., Mccusker, E., Novelletto, A., Frontali, M., Jones, R., Ashizawa, T., Frank, S., Saint-Hilaire, M. H., Hersch, S. M., Rosas, H. D., Lucente, D., Harrison, M. B., Zanko, A., Abramson, R. K., Marder, K., Sequeiros, J., Paulsen, J. S., Landwehrmeyer, G. B., Myers, R. H., Macdonald, M. E. & Gusella, J. F. 2012b. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology, 78, 690-695.
  30. Liu, H. C., Enikolopov, G. & Chen, Y. 2012. Cul4B regulates neural progenitor cell growth. BMC Neurosci, 13, 112.
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  32. Miller, M. C., Lambert-Messerlian, G. M., Eklund, E. E., Heath, N. L., Donahue, J. E. & Stopa, E. G. 2012. Expression of inhibin/activin proteins and receptors in the human hypothalamus and basal forebrain. J Neuroendocrinol, 24, 962-972.
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  34. Morgan, J. T., Chana, G., Abramson, I., Semendeferi, K., Courchesne, E. & Everall, I. P. 2012. Abnormal microglial-neuronal spatial organization in the dorsolateral prefrontal cortex in autism. Brain Res, 1456, 72-81.
  35. Mukaetova-Ladinska, E. B., Perry, E., Baron, M. & Povey, C. 2012. Ageing in people with autistic spectrum disorder. Int J Geriatr Psychiatry, 27, 109-118.
  36. Pankratz, N., Beecham, G. W., Destefano, A. L., Dawson, T. M., Doheny, K. F., Factor, S. A., Hamza, T. H., Hung, A. Y., Hyman, B. T., Ivinson, A. J., Krainc, D., Latourelle, J. C., Clark, L. N., Marder, K., Martin, E. R., Mayeux, R., Ross, O. A., Scherzer, C. R., Simon, D. K., Tanner, C., Vance, J. M., Wszolek, Z. K., Zabetian, C. P., Myers, R. H., Payami, H., Scott, W. K. & Foroud, T. 2012. Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol, 71, 370-384.
  37. Park, H., Kam, T. I., Kim, Y., Choi, H., Gwon, Y., Kim, C., Koh, J. Y. & Jung, Y. K. 2012. Neuropathogenic role of adenylate kinase-1 in Abeta-mediated tau phosphorylation via AMPK and GSK3beta. Hum Mol Genet, 21, 2725-2737.
  38. Prasad, K., Beach, T. G., Hedreen, J. & Richfield, E. K. 2012. Critical role of truncated alpha-synuclein and aggregates in Parkinson's disease and incidental Lewy body disease. Brain Pathol, 22, 811-825.
  39. Ramos, E. M., Latourelle, J. C., Lee, J. H., Gillis, T., Mysore, J. S., Squitieri, F., Di Pardo, A., Di Donato, S., Hayden, M. R., Morrison, P. J., Nance, M., Ross, C. A., Margolis, R. L., Gomez-Tortosa, E., Ayuso, C., Suchowersky, O., Trent, R. J., Mccusker, E., Novelletto, A., Frontali, M., Jones, R., Ashizawa, T., Frank, S., Saint-Hilaire, M. H., Hersch, S. M., Rosas, H. D., Lucente, D., Harrison, M. B., Zanko, A., Marder, K., Gusella, J. F., Lee, J. M., Alonso, I., Sequeiros, J., Myers, R. H. & Macdonald, M. E. 2012. Population stratification may bias analysis of PGC-1alpha as a modifier of age at Huntington disease motor onset. Hum Genet, 131, 1833-1840.
  40. Rao, J.S, Kellom, M., Reese, E.A., Rapoport, S.I. & Kim, H.W.  2012.  Dysregulated glutamate and dopamine transporters in postmortem frontal cortex from bipolar and schizophrenic patients.  J Affect Disord, 136(1-2):63-71.
  41. Rao, J.S., Keleshian, V.L., Klein, S., & Rapoport, S.I.  2012.  Epigenetic modifications in frontal cortex from Alzheimer’s disease and bipolar disorder patients.  Transl Psychiatry3:e132.
  42. Reiner, A., Wang, H. B., Del Mar, N., Sakata, K., Yoo, W. & Deng, Y. P. 2012. BDNF may play a differential role in the protective effect of the mGluR2/3 agonist LY379268 on striatal projection neurons in R6/2 Huntington's disease mice. Brain Res, 1473, 161-172.
  43. Rose, S., Melnyk, S., Pavliv, O., Bai, S., Nick, T. G., Frye, R. E. & James, S. J. 2012. Evidence of oxidative damage and inflammation associated with low glutathione redox status in the autism brain. Transl Psychiatry, 2, e134.
  44. Schmidt, S. D., Mazzella, M. J., Nixon, R. A. & Mathews, P. M. 2012a. Abeta measurement by enzyme-linked immunosorbent assay. Methods Mol Biol, 849, 507-527.
  45. Schmidt, S. D., Nixon, R. A. & Mathews, P. M. 2012b. Tissue processing prior to analysis of Alzheimer's disease associated proteins and metabolites, including Abeta. Methods Mol Biol, 849, 493-506.
  46. Sheng, G., Demers, M., Subburaju, S. & Benes, F. M. 2012. Differences in the circuitry-based association of copy numbers and gene expression between the hippocampi of patients with schizophrenia and the hippocampi of patients with bipolar disorder. Arch Gen Psychiatry, 69, 550-561.
  47. Shulha, H. P., Cheung, I., Whittle, C., Wang, J., Virgil, D., Lin, C. L., Guo, Y., Lessard, A., Akbarian, S. & Weng, Z. 2012. Epigenetic signatures of autism: trimethylated H3K4 landscapes in prefrontal neurons. Arch Gen Psychiatry, 69, 314-324.
  48. Siddiqui, A., Rivera-Sanchez, S., Castro Mdel, R., Acevedo-Torres, K., Rane, A., Torres-Ramos, C. A., Nicholls, D. G., Andersen, J. K. & Ayala-Torres, S. 2012. Mitochondrial DNA damage is associated with reduced mitochondrial bioenergetics in Huntington's disease. Free Radic Biol Med, 53, 1478-1488.
  49. Skafidas, E., Testa, R., Zantomio, D., Chana, G., Everall, I. P. & Pantelis, C. 2012. Predicting the diagnosis of autism spectrum disorder using gene pathway analysis. Mol Psychiatry.
  50. Sonntag, K. C., Woo, T. U. W. & Krichevsky, A. M. 2012. Converging miRNA functions in diverse brain disorders: a case for miR-124 and miR-126. Exp Neurol, 235, 427-435.
  51. Wegiel, J., Frackowiak, J., Mazur-Kolecka, B., Schanen, N. C., Cook, E. H., Jr., Sigman, M., Brown, W. T., Kuchna, I., Wegiel, J., Nowicki, K., Imaki, H., Ma, S. Y., Chauhan, A., Chauhan, V., Miller, D. L., Mehta, P. D., Flory, M., Cohen, I. L., London, E., Reisberg, B., De Leon, M. J. & Wisniewski, T. 2012a. Abnormal intracellular accumulation and extracellular Abeta deposition in idiopathic and Dup15q11.2-q13 autism spectrum disorders. PLoS One, 7, e35414.
  52. Wegiel, J., Lightfoot, D., Pickett, J. & Brown, W. T. 2012b. New trends in brain and tissue banking for autism research.  Aut Spec Disord, 7, 1-27.
  53. Wegiel, J., Schanen, N. C., Cook, E. H., Brown, W. T., Kuchna, I., Nowicki, K., Wegiel, H., Imaki, H., London, E. & Wisniewski, H. 2012c. Clinicopathological stratification of idiopathic autism and autism associated with duplications 15q11.2-q13. In: HOF, P. R. & BUXBAUM, J. D. (eds.) Neuroscience of autism spectrum disorders. New York: Academic Press.
  54. Wegiel, J., Schanen, N. C., Cook, E. H., Sigman, M., Brown, W. T., Kuchna, I., Nowicki, K., Wegiel, J., Imaki, H., Ma, S. Y., Marchi, E., Wierzba-Bobrowicz, T., Chauhan, A., Chauhan, V., Cohen, I. L., London, E., Flory, M., Lach, B. & Wisniewski, T. 2012d. Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism. J Neuropathol Exp Neurol, 71, 382-397.
  55. Weidenheim, K. M., Escobar, A. & Rapin, I. 2012. Brief report: life history and neuropathology of a gifted man with Asperger syndrome. J Autism Dev Disord, 42, 460-467.
  56. Wolfe, D. M. & Nixon, R. A. 2012. Autophagy failure in Alzheimer’s disease and lysosomal storage disorders: A common pathway to neurodegeneration. In: YUE, Z. & CHU, C. T. (eds.) Autophagy of the nervous system: Cellular self-digestion in neurons and neurological diseases. Hackensack, New Jersey: World Scientific Publishing

HBTRC 2011
  1. Azmitia, E. C., Singh, J. S. & Whitaker-Azmitia, P. M. 2011b. Increased serotonin axons (immunoreactive to 5-HT transporter) in postmortem brains from young autism donors. Neuropharmacology, 60, 1347-1354.
  2. Azmitia, E. C., Singh, J. S., Hou, X. P. & Wegiel, J. 2011a. Dystrophic serotonin axons in postmortem brains from young autism patients.  Anat Rec (Hoboken), 294, 1653-1662.
  3. Benes, F. M. 2011a. Neurobiology of bipolar disorder:  From circuits to cells to molecular regulation. In: MANJI, H. K. & ZARATE, C. (eds.) Current Topics in Behavioral Neuroscience 5:127-138.
  4. Benes, F. M. 2011b. Regulation of cell cycle and DNA repair in post-mitotic GABA neurons in psychotic disorders. Neuropharmacology, 60, 1232-1242.
  5. Berman, A. E., Chan, W. Y., Brennan, A. M., Reyes, R. C., Adler, B. L., Suh, S. W., Kauppinen, T. M., Edling, Y. & Swanson, R. A. 2011. N-acetylcysteine prevents loss of dopaminergic neurons in the EAAC1-/- mouse.  Ann Neurol, 69, 509-520.
  6. Blatt, G. J. & Fatemi, S. H. 2011. Alterations in GABAergic biomarkers in the autism brain: research findings and clinical implications.  Anat Rec (Hoboken), 294, 1646-1652.
  7. Catoire, H., Dion, P. A., Xiong, L., Amari, M., Gaudet, R., Girard, S. L., Noreau, A., Gaspar, C., Turecki, G., Montplaisir, J. Y., Parker, J. A. & Rouleau, G. A. 2011. Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis. Ann Neurol, 70, 170-175.
  8. Chauhan, A., Gu, F., Essa, M. M., Wegiel, J., Kaur, K., Brown, W. T. & Chauhan, V. 2011. Brain region-specific deficit in mitochondrial electron transport chain complexes in children with autism. J Neurochem, 117, 209-220.
  9. Chen, K.H., Reese, E.A., Kim, H.W., Rapoport S.I. & Rao, J.S. 2011.  Disturbed neurotransmitter expression in Alzheimer’s disease brain. J Alzheimers Dis, 26(4):755-66.
  10. Chow, M. L., Li, H. R., Winn, M. E., April, C., Barnes, C. C., Wynshaw-Boris, A., Fan, J. B., Fu, X. D., Courchesne, E. & Schork, N. J. 2011. Genome-wide expression assay comparison across frozen and fixed postmortem brain tissue samples. BMC Genomics, 12, 449.
  11. Courchesne, E., Mouton, P. R., Calhoun, M. E., Semendeferi, K., Ahrens-Barbeau, C., Hallet, M. J., Barnes, C. C. & Pierce, K. 2011. Neuron number and size in prefrontal cortex of children with autism. JAMA, 306, 2001-2010.
  12. Deep-Soboslay, A., Benes, F. M., Haroutunian, V., Ellis, J. K., Kleinman, J. E. & Hyde, T. M. 2011. Psychiatric brain banking: three perspectives on current trends and future directions. Biol Psychiatry, 69, 104-112.
  13. Dumitriu, A., Pacheco, C. D., Wilk, J. B., Strathearn, K. E., Latourelle, J. C., Goldwurm, S., Pezzoli, G., Rochet, J. C., Lindquist, S. & Myers, R. H. 2011. Cyclin-G-associated kinase modifies alpha-synuclein expression levels and toxicity in Parkinson's disease: results from the GenePD Study. Hum Mol Genet, 20, 1478-1487.
  14. Fabbro, S., Schaller, K. & Seeds, N. W. 2011. Amyloid-beta levels are significantly reduced and spatial memory defects are rescued in a novel neuroserpin-deficient Alzheimer's disease transgenic mouse model. J Neurochem, 118, 928-938.
  15. Fatemi, S. H. & Folsom, T. D. 2011a. Dysregulation of fragile x mental retardation protein and metabotropic glutamate receptor 5 in superior frontal cortex of individuals with autism: a postmortem brain study. Mol Autism, 2, 6.
  16. Fatemi, S. H. & Folsom, T. D. 2011b. The role of fragile X mental retardation protein in major mental disorders. Neuropharmacology, 60, 1221-1226.
  17. Fatemi, S. H., Folsom, T. D., Kneeland, R. E. & Liesch, S. B. 2011. Metabotropic glutamate receptor 5 upregulation in children with autism is associated with underexpression of both Fragile X mental retardation protein and GABAA receptor beta 3 in adults with autism. Anat Rec (Hoboken), 294, 1635-1645.
  18. Gonzalez, A. M., Podvin, S., Lin, S. Y., Miller, M. C., Botfield, H., Leadbeater, W. E., Roberton, A., Dang, X., Knowling, S. E., Cardenas-Galindo, E., Donahue, J. E., Stopa, E. G., Johanson, C. E., Coimbra, R., Eliceiri, B. P. & Baird, A. 2011. Ecrg4 expression and its product augurin in the choroid plexus: impact on fetal brain development, cerebrospinal fluid homeostasis and neuroprogenitor cell response to CNS injury. Fluids Barriers CNS, 8, 6.
  19. Igarashi, M., Ma, K., Gao, F., Kim, H.W., Rapoport, S.I. & Rao, J.S.  2011.  Distrubed choline plasmalogen and phospholipid fatty acid concentrations in Alzheimer’s disease prefrontal cortex.  JAlzheimers Dis, 24(3):507-17.
  20. Ji, L., Chauhan, V., Flory, M. J. & Chauhan, A. 2011. Brain region-specific decrease in the activity and expression of protein kinase A in the frontal cortex of regressive autism. PLoS One, 6, e23751.
  21. Kim, H.W., Rapoport, S.I. & Rao, J.S.  2011.  Altered arachidonic acid cascade enzymes in postmortem brain from bipolar disorder patients. Mol Psychiatry,16(4):419-28.
  22. Konradi, C., Yang, C. K., Zimmerman, E. I., Lohmann, K. M., Gresch, P., Pantazopoulos, H., Berretta, S. & Heckers, S. 2011a. Hippocampal interneurons are abnormal in schizophrenia. Schizophr Res, 131, 165-173
  23. Konradi, C., Zimmerman, E. I., Yang, C. K., Lohmann, K. M., Gresch, P., Pantazopoulos, H., Berretta, S. & Heckers, S. 2011b. Hippocampal interneurons in bipolar disorder. Arch Gen Psychiatry, 68, 340-350.
  24. Kulesza, R. J., Jr., Lukose, R. & Stevens, L. V. 2011. Malformation of the human superior olive in autistic spectrum disorders. Brain Res, 1367, 360-371.
  25. Lintas, C., Guidi, F., Manzi, B., Mancini, A., Curatolo, P. & Persico, A. M. 2011. Lack of infection with XMRV or other MLV-related viruses in blood, post-mortem brains and paternal gametes of autistic individuals. PLoS One, 6, e16609. Lintas, C., Altieri, L., Lombardi, F., Sacco, R. & Persico, A. M. 2010. Association of autism with polyomavirus infection in postmortem brains. J Neurovirol, 16, 141-149.
  26. Mukaetova-Ladinska , E. B., Westwood, J. & Perry, E. K. 2011. Biochemistry of autism: changes in serotonin, reelin and oxytocin. In: ROTH, I. & REZAIE, P. (eds.) Researching the autism spectrum. Contemporary perspectives. Cambridge: Cambridge University Press.
  27. Oblak, A. L., Gibbs, T. T. & Blatt, G. J. 2011b. Reduced GABAA receptors and benzodiazepine binding sites in the posterior cingulate cortex and fusiform gyrus in autism. Brain Res, 1380, 218-228.
  28. Oblak, A. L., Rosene, D. L., Kemper, T. L., Bauman, M. L. & Blatt, G. J. 2011c. Altered posterior cingulate cortical cyctoarchitecture, but normal density of neurons and interneurons in the posterior cingulate cortex and fusiform gyrus in autism. Autism Res, 4, 200-211.
  29. Oblak, A., Kemper, T. L., Bauman, M. L. & Blatt, G. J. 2011a. Cytoarchitectonic abnormalities but normal neuronal and interneuronal densities in the posterior cingulate cortex and fusiform gyrus in autism. Autism Res, 4, 200-211.
  30. Pickett, J., Xiu, E., Tuchman, R., Dawson, G. & Lajonchere, C. 2011. Mortality in individuals with autism, with and without epilepsy. J Child Neurol, 26, 932-939.
  31. Pietersen, C. Y., Lim, M. P., Macey, L., Woo, T. U. W. & Sonntag, K. C. 2011. Neuronal type-specific gene expression profiling and laser-capture microdissection. Methods Mol Biol, 755, 327-343.
  32. Podtelezhnikov, A. A., Tanis, K. Q., Nebozhyn, M., Ray, W. J., Stone, D. J. & Loboda, A. P. 2011. Molecular insights into the pathogenesis of Alzheimer's disease and its relationship to normal aging. PLoS One, 6, e29610.
  33. Rao, J.S., Rapoport, S.I., & Kim, H.W.  2011.  Altered neuroinflammatory, arachidonic acid cascade and synaptic markers in postmortem Alzheimer’s disease brain.  Transl Psychiatry, 1:e31.
  34. Ray, B., Long, J. M., Sokol, D. K. & Lahiri, D. K. 2011. Increased secreted amyloid precursor protein-alpha (sAPPalpha) in severe autism: proposal of a specific, anabolic pathway and putative biomarker. PLoS One, 6, e20405.
  35. Santos, M., Uppal, N., Butti, C., Wicinski, B., Schmeidler, J., Giannakopoulos, P., Heinsen, H., Schmitz, C. & Hof, P. R. 2011. Von Economo neurons in autism: a stereologic study of the frontoinsular cortex in children. Brain Res, 1380, 206-217.
  36. Sarachana, T., Xu, M., Wu, R. C. & Hu, V. W. 2011. Sex hormones in autism: androgens and estrogens differentially and reciprocally regulate RORA, a novel candidate gene for autism. PLoS One, 6, e17116.
  37. Schroeder, D. I., Lott, P., Korf, I. & Lasalle, J. M. 2011. Large-scale methylation domains mark a functional subset of neuronally expressed genes. Genome Res, 21, 1583-1591.
  38. Schumann, C. M. & Nordahl, C. W. 2011. Bridging the gap between MRI and postmortem research in autism. Brain Res, 1380, 175-186.
  39. Sokol, D.K., Maloney, B., Long, J.M., Ray, B. & Lahiri, D.K.  2011.  Autism, Alzheimer disease and gragile X.  APP, FMRP and MGluR5 are molecular Links.  Neurology, 76(15):1344-52.
  40. Szymanski, M., Wang, R., Bassett, S. S. & Avramopoulos, D. 2011. Alzheimer's risk variants in the clusterin gene are associated with alternative splicing. Transl Psychiatry, 1.
  41. Tang, B., Dean, B. & Thomas, E. A. 2011. Disease- and age-related changes in histone acetylation at gene promoters in psychiatric disorders. Transl Psychiatry, 1, e64.
  42. Voineagu, I., Wang, X., Johnston, P., Lowe, J. K., Tian, Y., Horvath, S., Mill, J., Cantor, R. M., Blencowe, B. J. & Geschwind, D. H. 2011. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature, 474, 380-384.
  43. Wang, A. Y., Lohmann, K. M., Yang, C. K., Zimmerman, E. I., Pantazopoulos, H., Herring, N., Berretta, S., Heckers, S. & Konradi, C. 2011. Bipolar disorder type 1 and schizophrenia are accompanied by decreased density of parvalbumin- and somatostatin-positive interneurons in the parahippocampal region. Acta Neuropathol, 122, 615-626.
  44. Wintle, R. F., Lionel, A. C., Hu, P., Ginsberg, S. D., Pinto, D., Thiruvahindrapduram, B., Wei, J., Marshall, C. R., Pickett, J., Cook, E. H. & Scherer, S. W. 2011. A genotype resource for postmortem brain samples from the Autism Tissue Program. Autism Res, 4, 89-97.
  45. Yasui, D. H., Scoles, H. A., Horike, S., Meguro-Horike, M., Dunaway, K. W., Schroeder, D. I. & Lasalle, J. M. 2011. 15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain. Hum Mol Genet, 20, 4311-4323.
  46. Young, A. M., Campbell, E., Lynch, S., Suckling, J. & Powis, S. J. 2011. Aberrant NF-kappaB expression in autism spectrum condition: a mechanism for neuroinflammation. Front Psychiatry, 2, 27.

HBTRC 2010
  1. Avino, T. A. & Hutsler, J. J. 2010. Abnormal cell patterning at the cortical gray-white matter boundary in autism spectrum disorders. Brain Res, 1360, 138-146.
  2. Benes, F. M. 2010a. Amygdalocortical circuitry in schizophrenia: from circuits to molecules. Neuropsychopharmacology, 35, 239-257.
  3. Benes, F. M. 2010b. Relationship of GAD(67) regulation to cell cycle and DNA repair in GABA neurons in the adult hippocampus: bipolar disorder versus schizophrenia. Cell Cycle, 9, 625-627.
  4. Benes, F. M. 2010c. Searching for unique endophenotypes for schizophrenia and bipolar disorder within neural circuits and their unique molecular regulatory mechanisms. In: TAMMINGA, C., SEROVATKA, P. J. & REVIER, D. A. (eds.) Deconstructing Psychosis: Refining the Research Agenda for DSMV,99-107; American Psychiatric Institute for Research and Teaching, WHO and NIH. 
  5. Casanova, M. F., El-Baz, A. S., Giedd, J., Rumsey, J. M. & Switala, A. E. 2010b. Increased white matter gyral depth in dyslexia: implications for corticocortical connectivity. J Autism Dev Disord, 40, 21-29.
  6. Casanova, M. F., El-Baz, A., Vanbogaert, E., Narahari, P. & Switala, A. 2010a. A topographic study of minicolumnar core width by lamina comparison between autistic subjects and controls: possible minicolumnar disruption due to an anatomical element in-common to multiple laminae. Brain Pathol, 20, 451-458.
  7. Cortes-Canteli, M., Paul, J., Norris, E. H., Bronstein, R., Ahn, H. J., Zamolodchikov, D., Bhuvanendran, S., Fenz, K. M. & Strickland, S. 2010. Fibrinogen and beta-amyloid association alters thrombosis and fibrinolysis: a possible contributing factor to Alzheimer's disease. Neuron, 66, 695-709.
  8. Fatemi, S. H. & Folsom, T. D. 2010. FMRP is reduced in cerebella of subjects with autism.  Iranian J Psychiatric Behav Neurosci, 4, 56-57.
  9. Fatemi, S. H., Reutiman, T. J., Folsom, T. D., Rooney, R. J., Patel, D. H. & Thuras, P. D. 2010. mRNA and protein levels for GABAAalpha4, alpha5, beta1 and GABABR1 receptors are altered in brains from subjects with autism. J Autism Dev Disord, 40, 743-750.
  10. Furuya, T., Kim, M., Lipinski, M., Li, J., Kim, D., Lu, T., Shen, Y., Rameh, L., Yankner, B., Tsai, L. H. & Yuan, J. 2010. Negative regulation of Vps34 by Cdk mediated phosphorylation. Mol Cell, 38, 500-511.
  11. Gonzalez, A. M., Taylor, W. M., Johanson, C. E., King, J. C., Leadbeater, W. E., Stopa, E. G. & Baird, A. 2010. Co-localization and regulation of basic fibroblast growth factor and arginine vasopressin in neuroendocrine cells of the rat and human brain. Cerebrospinal Fluid Res, 7, 13.
  12. Huang, H. S., Cheung, I. & Akbarian, S. 2010. RPP25 is developmentally regulated in prefrontal cortex and expressed at decreased levels in autism spectrum disorder. Autism Res, 3, 153-161
  13. Hutsler, J. J. & Zhang, H. 2010. Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders. Brain Res, 1309, 83-94.
  14. Igarashi, M., Ma, K., Gao, F., Kim, H.W., Greenstein, D., Rapoport, S.I. & Rao, J.S., 2010.  Brain lipid concentrations in bipolar disorder.  J Psychiatr Res,44(3):177-82.
  15. Kataoka, Y., Kalanithi, P. S., Grantz, H., Schwartz, M. L., Saper, C., Leckman, J. F. & Vaccarino, F. M. 2010. Decreased number of parvalbumin and cholinergic interneurons in the striatum of individuals with Tourette syndrome. J Comp Neurol, 518, 277-291.
  16. Kim, H.W., Rapoport, S.I. & Rao, J.S.  2010.  Altered expression of apoptotic factors and synaptic markers in postmortem brain from bipolar disorder patients.  Neurobiol Dis, 37(3):596-603.
  17. Lanoue, A. C., Dumitriu, A., Myers, R. H. & Soghomonian, J. J. 2010. Decreased glutamic acid decarboxylase mRNA expression in prefrontal cortex in Parkinson's disease. Exp Neurol, 226, 207-217.
  18. Lintas, C. and Persico, A.M.  2010.  Neocortical RELN promoter methylation increases significantly after puberty. Neuroreport, 21:114-118
  19. Morgan, J. T., Chana, G., Pardo, C. A., Achim, C., Semendeferi, K., Buckwalter, J., Courchesne, E. & Everall, I. P. 2010. Microglial activation and increased microglial density observed in the dorsolateral prefrontal cortex in autism. Biol Psychiatry, 68, 368-376.
  20. Mukaetova-Ladinska , E. B., Westwood, J. & Perry, E. K. 2010. Cholinergic component of autism spectrum disorder. In: BLATT, G. J. (ed.) The Neurochemical Basis of Autism: From Molecules to Minicolumns. Berlin: Springer.  129-161.
  21. Naydenov, A.V., Vassoler, F., Luksik, A.S., Kaczmarska, J. & Konradi, C. 2010.  Mitochondrial abnormalities in the putamen in Parkinson’s disease dyskinesia.  Acta Neuropathol,120(5): 623-631
  22. Nguyen, A., Rauch, T. A., Pfeifer, G. P. & Hu, V. W. 2010. Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain. FASEB J, 24, 3036-3051.
  23. Oblak, A. L., Gibbs, T. T. & Blatt, G. J. 2010. Decreased GABA(B) receptors in the cingulate cortex and fusiform gyrus in autism. J Neurochem, 114, 1414-1423.
  24. Palmieri, L. & Persico, A. M. 2010. Mitochondrial dysfunction in autism spectrum disorders: cause or effect? Biochim Biophys Acta, 1797, 1130-1137.
  25. 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., Schneider, C., Melmed, R., Elia, M., Lenti, C., Saccani, M., Pascucci, T., Puglisi-Allegra, S., Reichelt, K.L. & Persico, A.M.  2010.  Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1.  Mol Psychiatry, 15:38-52.
  26. Pantazopoulos, H., Woo, T. U., Lim, M. P., Lange, N. & Berretta, S. 2010. Extracellular matrix-glial abnormalities in the amygdala and entorhinal cortex of subjects diagnosed with schizophrenia. Arch Gen Psychiatry, 67, 155-166.
  27. Rao, J.S., Harry, G.J., Rapoport, S.I. & Kim HW.  2010.  Increased excitotoxicity andneuroinflammatory markers in postmortem frontal cortex from bipolar disorder patients. Mol. Psychiatry, 15(4):384-92.
  28. Sarachana, T., Zhou, R., Chen, G., Manji, H. K. & Hu, V. W. 2010. Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines. Genome Med, 2, 23.
  29. Simunovic, F., Yi, M., Wang, Y., Stephens, R. & Sonntag, K. C. 2010. Evidence for gender-specific transcriptional profiles of nigral dopamine neurons in Parkinson disease. PLoS One, 5, e8856.
  30. Sonntag, K. C. & Wahlestedt, C. 2010. RNA mechanisms in CNS systems and disorders. Brain Res, 1338, 1-2.
  31. Sonntag, K. C. 2010. MicroRNAs and deregulated gene expression networks in neurodegeneration. Brain Res, 1338, 48-57.
  32. Tsuyoshi, F., Kim, M., Lipinski, M., Li, J., Kim, D, Lu, T., Shen, Y., Rameh, L., Yankner, B, Tsai L. & Yuan, J.  2010.  Negative Regulation of Vps34 by Cdk Mediated Phosphorylation.  Molecular Cell, 38, 500-511.
  33. 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., Louis, L. A., Cohen, I. L., London, E., Brown, W. T. & Wisniewski, T. 2010a. The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes. Acta Neuropathol, 119, 755-770.
  34. Wegiel, J., Wisniewski, H., Chauhan, A., Chauhan, V., Kuchna, I., Nowicki, K., Imaki, H., Ma, S. Y., Wierzba-Bobrowicz, T., Cohen, I. L., London, E. & Brown, W. T. 2010b. Type, topography, and sequelae of neuropathological changes shaping clinical phenotype of autism. In: CHAUHAN, A., CHAUHAN, V. & BROWN, W. T. (eds.) Autism. Oxidative stress, inflammation, and immune abnormalities. Boca Raton: CRC Press, Taylor and Francis Group.
  35. Williams, E. L. & Casanova, M. F. 2010. Autism and dyslexia: a spectrum of cognitive styles as defined by minicolumnar morphometry. Med Hypotheses, 74, 59-62.
  36. Woo, T. U. W., Spencer, K. & Mccarley, R. W. 2010. Gamma oscillation deficits and the onset and early progression of schizophrenia. Harv Rev Psychiatry, 18, 173-189.
  37. Zheng, B., Liao, Z., Locascio, J. J., Lesniak, K. A., Roderick, S. S., Watt, M. L., Eklund, A. C., Zhang-James, Y., Kim, P. D., Hauser, M. A., Grunblatt, E., Moran, L. B., Mandel, S. A., Riederer, P., Miller, R. M., Federoff, H. J., Wullner, U., Papapetropoulos, S., Youdim, M. B., Cantuti-Castelvetri, I., Young, A. B., Vance, J. M., Davis, R. L., Hedreen, J. C., Adler, C. H., Beach, T. G., Graeber, M. B., Middleton, F. A., Rochet, J. C. & Scherzer, C. R. 2010. PGC-1alpha, a potential therapeutic target for early intervention in Parkinson's disease. Sci Transl Med, 2, 52-73.
  38. Zikopoulos, B. & Barbas, H. 2010. Changes in prefrontal axons may disrupt the network in autism. J Neurosci, 30, 14595-14609.

HBTRC 2009
  1. Abuhatzira, L., Shemer, R. & Razin, A. 2009. MeCP2 involvement in the regulation of neuronal alpha-tubulin production. Hum Mol Genet, 18, 1415-1423.
  2. Behan, A. T., Byrne, C., Dunn, M. J., Cagney, G. & Cotter, D. R. 2009. Proteomic analysis of membrane microdomain-associated proteins in the dorsolateral prefrontal cortex in schizophrenia and bipolar disorder reveals alterations in LAMP, STXBP1 and BASP1 protein expression.  Mol Psychiatry, 14, 601-613.
  3. Benes, F. M., Cunningham, M. G., Berretta, S. & Gisabella, B. 2009a. Course and pattern of cingulated pathology in schizophrenia. In: VOGT, B. A. (ed.) Cingulate Neurobiology and Disease. Second Edition.  Oxford University Press. 655-678.
  4. Benes, F. M., Lim, B. & Subburaju, S. 2009b. Site-specific regulation of cell cycle and DNA repair in post-mitotic GABA cells in schizophrenic versus bipolars.  Proc Natl Acad Sci U S A, 106, 11731-11736.
  5. Benes, F.M., Cunningham, M.G., Berretta, S., Gisabella, B.  Course and pattern of cingulate pathology in schizophrenia.  In: Cingulate Neurobiology and Disease.  Second Edition.  Vogt, B.A. (Ed.); Chapt. 9; 2009; pp. 679-706 . 
  6. Berretta, S., Gisabella, B. & Benes, F. M. 2009. A rodent model of schizophrenia derived from postmortem studies.  Behav Brain Res, 204, 363-368.
  7. Bitanihirwe, B. K., Lim, M. P., Kelley, J. F., Kaneko, T. & Woo, T. U. W. 2009. Glutamatergic deficits and parvalbumin-containing inhibitory neurons in the prefrontal cortex in schizophrenia. BMC Psychiatry, 9, 71.
  8. Casanova, M. F., El-Baz, A., Mott, M., Mannheim, G., Hassan, H., Fahmi, R., Giedd, J., Rumsey, J. M., Switala, A. E. & Farag, A. 2009. Reduced gyral window and corpus callosum size in autism: possible macroscopic correlates of a minicolumnopathy. J Autism Dev Disord, 39, 751-764.
  9. English, J. A., Dicker, P., Focking, M., Dunn, M. J. & Cotter, D. R. 2009. 2-D DIGE analysis implicates cytoskeletal abnormalities in psychiatric disease. Proteomics, 9, 3368-3382.
  10. Fabbro, S. & Seeds, N. W. 2009. Plasminogen activator activity is inhibited while neuroserpin is up-regulated in the Alzheimer disease brain. J Neurochem, 109, 303-315.
  11. Fatemi, S. H., Folsom, T. D., Reutiman, T. J. & Thuras, P. D. 2009a. Expression of GABA(B) receptors is altered in brains of subjects with autism. Cerebellum, 8, 64-69.
  12. Fatemi, S. H., Reutiman, T. J., Folsom, T. D. & Thuras, P. D. 2009b. GABA(A) receptor downregulation in brains of subjects with autism. J Autism Dev Disord, 39, 223-230.
  13. Gregory, S. G., Connelly, J. J., Towers, A. J., Johnson, J., Biscocho, D., Markunas, C. A., Lintas, C., Abramson, R. K., Wright, H. H., Ellis, P., Langford, C. F., Worley, G., Delong, G. R., Murphy, S. K., Cuccaro, M. L., Persico, A. & Pericak-Vance, M. A. 2009. Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Med, 7, 62.
  14. Hoffner, G., Van Der Rest, G., Dansette, P. M. & Djian, P. 2009. The end product of transglutaminase crosslinking: simultaneous quantitation of [Nepsilon-(gamma-glutamyl) lysine] and lysine by HPLC-MS3. Anal Biochem, 384, 296-304.
  15. Lintas, C., Sacco, R., Garbett, K., Mirnics, K., Militerni, R., Bravaccio, C., Curatolo, P., Manzi, B., Schneider, C., Melmed, R., Elia, M., Pascucci, T., Puglisi-Allegra, S., Reichelt, K. L. & Persico, A. M. 2009. Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression. Mol Psychiatry, 14, 705-718.
  16. Lintas, C., Sacco, R., Garbett, K., Mirnics, K., Militerni, R., Bravaccio, C., Curatolo, .P, Manzi, B., Schneider, C., Melmed, R., Elia, M., Pascucci, T., Puglisi-Allegra, S., Reichelt, K.L. and Persico, A.M.  2009.  Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression.  Mol Psychiatry, 46:1-8 
  17. Nasrallah, H. A., Keshavan, M. S., Benes, F. M., Braff, D. L., Green, A. I., Gur, R. E., Kane, J. M., Perkins, D. O., Weiden, P. J., Weinberger, D. R. & Correll, C. U. 2009. Proceedings and data from The Schizophrenia Summit: a critical appraisal to improve the management of Schizophrenia. J Clin Psychiatry, 70 Suppl 1, 4-46.
  18. Oblak, A., Gibbs, T. T. & Blatt, G. J. 2009. Decreased GABAA receptors and benzodiazepine binding sites in the anterior cingulate cortex in autism. Autism Res, 2, 205-219.
  19. Pietersen, C. Y., Lim, M. P. & Woo, T. U. W. 2009. Obtaining high quality RNA from single cell populations in human postmortem brain tissue. J Vis Exp(30). pii: 1444.
  20. Rao, J.S., Rapoport, S.I., & Kim, H.W.  2009.  Decreased GRK3 but not GRK2 expression in frontal cortex from bipolar disorder patients.  Int J Neuropsychopharmaco, 12(6):851-60.
  21. Rousseau, E., Kojima, R., Hoffner, G., Djian, P. & Bertolotti, A. 2009. Misfolding of proteins with a polyglutamine expansion is facilitated by proteasomal chaperones. J Biol Chem, 284, 1917-1929.
  22. Roybon, L., Hjalt, T., Stott, S., Guillemot, F., Li, J. Y. & Brundin, P. 2009. Neurogenin2 directs granule neuroblast production and amplification while NeuroD1 specifies neuronal fate during hippocampal neurogenesis. PLoS One, 4, e4779.
  23. Schumann CM and Amaral DG.  The Human Amygdala in Autism ;  in The Human Amygdala.  Ed. PJ Whales (2009) (p. 362–381). 
  24. Simms, M. L., Kemper, T. L., Timbie, C. M., Bauman, M. L. & Blatt, G. J. 2009. The anterior cingulate cortex in autism: heterogeneity of qualitative and quantitative cytoarchitectonic features suggests possible subgroups. Acta Neuropathol, 118, 673-684.
  25. Simunovic, F., Yi, M., Wang, Y., Macey, L., Brown, L. T., Krichevsky, A. M., Andersen, S. L., Stephens, R. M., Benes, F. M. & Sonntag, K. C. 2009. Gene expression profiling of substantia nigra dopamine neurons: further insights into Parkinson's disease pathology. Brain, 132, 1795-1809.
  26. Swami, M., Hendricks, A. E., Gillis, T., Massood, T., Mysore, J., Myers, R. H. & Wheeler, V. C. 2009. Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset. Hum Mol Genet, 18, 3039-3047.
  27. Weidenheim, K. M., Dickson, D. W. & Rapin, I. 2009. Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration. Mech Ageing Dev, 130, 619-636.
  28. Weiss, L. A., Arking, D. E., Daly, M. J. & Chakravarti, A. 2009. A genome-wide linkage and association scan reveals novel loci for autism. Nature, 461, 802-808.
  29. Whitney, E. R., Kemper, T. L., Rosene, D. L., Bauman, M. L. & Blatt, G. J. 2009. Density of cerebellar basket and stellate cells in autism: evidence for a late developmental loss of Purkinje cells. J Neurosci Res, 87, 2245-2254.
  30. Xiong, L., Catoire, H., Dion, P., Gaspar, C., Lafreniere, R. G., Girard, S. L., Levchenko, A., Riviere, J. B., Fiori, L., St-Onge, J., Bachand, I., Thibodeau, P., Allen, R., Earley, C., Turecki, G., Montplaisir, J. & Rouleau, G. A. 2009. MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels. Hum Mol Genet, 18, 1065-1074.
  31. Yip, J., Soghomonian, J. J. & Blatt, G. J. 2009. Decreased GAD65 mRNA levels in select subpopulations of neurons in the cerebellar dentate nuclei in autism: an in situ hybridization study. Autism Res, 2, 50-59.
  32. Zhubi, A., Veldic, M., Puri, N. V., Kadriu, B., Caruncho, H., Loza, I., Sershen, H., Lajtha, A., Smith, R. C., Guidotti, A., Davis, J. M. & Costa, E. 2009. An upregulation of DNA-methyltransferase 1 and 3a expressed in telencephalic GABAergic neurons of schizophrenia patients is also detected in peripheral blood lymphocytes. Schizophr Res,111, 115-122.

HBTRC 2008
  1. Abdolmaleky HM, Zhou J, Thiagalingam S.  Epigenetic modulation of reelin function in schizophrenia and bipolar disorder . Submitted as a book chapter. (2008)
  2. Amaral DG, Schumann CM and Nordahl CW.  PMID: 18258309 Neuropathology of Autism. (to appear as an invited article in Trends in Neurosciences, 2008)
  3. Azmitia, E. C. & Nixon, R. 2008. Dystrophic serotonergic axons in neurodegenerative diseases.  Brain Res,1217, 185-19.
  4. Benes, F. M., Lim, B., Matzilevich, D. & Walsh, J. 2008b. Identifying Novel Target Genes in Psychotic Disorder Network Association Analyses. In: O'DONNELL, P. (ed.) Cortical Deficits in Schizophrenia.  From Genes to Function. New York: Springer. 191-204.
  5. Benes, F. M., Lim, B., Matzilevich, D., Subburaju, S. & Walsh, J. P. 2008a. Circuitry-based gene expression profiles in GABA cells of the trisynaptic pathway in schizophrenics versus bipolars. Proc Natl Acad Sci U S A, 105, 20935-20940.
  6. Cataldo, A. M., Mathews, P. M., Boiteau, A. B., Hassinger, L. C., Peterhoff, C. M., Jiang, Y., Mullaney, K., Neve, R. L., Gruenberg, J. & Nixon, R. A. 2008. Down syndrome fibroblast model of Alzheimer-related endosome pathology: accelerated endocytosis promotes late endocytic defects. Am J Pathol, 173, 370-384.
  7. Costa E, Done E, Grayson D, Ruzicka W, Simonini MV, Veldie M, Guidotti A.  Epigenetic targets in GABAergic neurons to treat schizophrenia. Advances in Pharmacology, 54:95-117, 2006.
  8. Cunningham, M. G., Ames, H. M., Donalds, R. A. & Benes, F. M. 2008a. Construction and implantation of a microinfusion system for sustained delivery of neuroactive agents. J Neurosci Methods, 167, 213-220.
  9. Cunningham, M. G., Bhattacharyya, S. & Benes, F. M. 2008b. Increasing Interaction of amygdalar afferents with GABAergic interneurons between birth and adulthood. Cereb Cortex, 18, 1529-1535.
  10. Davis, J. D., Podolanczuk, A., Donahue, J. E., Stopa, E., Hennessey, J. V., Luo, L. G., Lim, Y. P. & Stern, R. A. 2008. Thyroid hormone levels in the prefrontal cortex of post-mortem brains of Alzheimer's disease patients. Curr Aging Sci, 1, 175-181.
  11. Evans, T. A., Siedlak, S. L., Lu, L., Fu, X., Wang, Z., Mcginnis, W. R., Fakhoury, E., Castellan, R. J., Hazen, S. L., Walsh, W. J., Lewis, A. T., Salomon, R. G., Smith, M. A., Perry, G. & Zhu, X. 2008. The Autistic Phenotype Exhibits a Remarkably Localized Modification of Brain Protein by Products of Free Radical-Induced Lipid Oxidation. Am J Biochem Biotech, 2, 61-72.
  12. Fatemi, S. H. 2008. The hyperglutamatergic hypothesis of autism. Prog Neuropsychopharmacol Biol Psychiatry, 32, 911, author reply 912-913.
  13. Fatemi, S. H., Folsom, T. D., Reutiman, T. J. & Lee, S. 2008. Expression of astrocytic markers aquaporin 4 and connexin 43 is altered in brains of subjects with autism. Synapse, 62, 501-507.
  14. Garbett K.A., Ebert P.J., Mitchell A., Lintas C., Manzi B., Mirnics K. & Persico A.M.  2008.  Immune transcriptome alterations in the temporal cortex of subjects with autism.  2008.  Neurobiol Dis, 30:303-311
  15. Gregg, J. P., Lit, L., Baron, C. A., Hertz-Picciotto, I., Walker, W., Davis, R. A., Croen, L. A., Ozonoff, S., Hansen, R., Pessah, I. N. & Sharp, F. R. 2008. Gene expression changes in children with autism. Genomics, 91, 22-29.
  16. Harper, D. G., Stopa, E. G., Kuo-Leblanc, V., Mckee, A. C., Asayama, K., Volicer, L., Kowall, N. & Satlin, A. 2008. Dorsomedial SCN neuronal subpopulations subserve different functions in human dementia. Brain, 131, 1609-1617.
  17. Hoffner, G., Hoppilliard, Y., van der Rest, G., Dansette, P. & Ohanessian, G., PMID: 18064578 [Nepsilon-(gamma-glutamyl) lysine] as a potential biomarker in neurological diseases:  new detection method and fragmentation pathways.  J Mass Spectrom, 43:456-469. (2008)
  18. Kulesza, R. J. & Mangunay, K. 2008. Morphological features of the medial superior olive in autism. Brain Res, 1200, 132-137.
  19. Lepagnol-Bestel, A. M., Maussion, G., Boda, B., Cardona, A., Iwayama, Y., Delezoide, A. L., Moalic, J. M., Muller, D., Dean, B., Yoshikawa, T., Gorwood, P., Buxbaum, J. D., Ramoz, N. & Simonneau, M. 2008. SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects. Mol Psychiatry, 13, 385-397.
  20. Limon, A., Reyes-Ruiz, J. M. & Miledi, R. 2008. Microtransplantation of neurotransmitter receptors from postmortem autistic brains to Xenopus oocytes. Proc Natl Acad Sci U S A, 105, 10973-10977.
  21. Lisman, J. E., Coyle, J. T., Green, R. W., Javitt, D. C., Benes, F. M., Heckers, S. & Grace, A. A. 2008. Circuit-based framework for understanding neurotransmitter and risk gene interactions in schizophrenia. Trends Neurosci, 31, 234-242.
  22. López-Hurtado, E. & Preieto, J. J. 2008. A Microscopic Study of Language-Related Cortex in Autism. Am J Biochem Biotech, 4, 130-145.
  23. Maussion, G., Carayol, J., Lepagnol-Bestel, A. M., Tores, F., Loe-Mie, Y., Milbreta, U., Rousseau, F., Fontaine, K., Renaud, J., Moalic, J. M., Philippi, A., Chedotal, A., Gorwood, P., Ramoz, N., Hager, J. & Simonneau, M. 2008. Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism. Hum Mol Genet, 17, 2541-2551.
  24. Miller, M. C., Tavares, R., Johanson, C. E., Hovanesian, V., Donahue, J. E., Gonzalez, L., Silverberg, G. D. & Stopa, E. G. 2008. Hippocampal RAGE immunoreactivity in early and advanced Alzheimer's disease. Brain Res, 1230, 273-280.
  25. Pantazopoulos, H., Murray, E. A. & Berretta, S. 2008. Total number, distribution, and phenotype of cells expressing chondroitin sulfate proteoglycans in the normal human amygdala. Brain Res, 1207, 84-95.
  26. Rao, M. V., Mohan, P. S., Peterhoff, C. M., Yang, D. S., Schmidt, S. D., Stavrides, P. H., Campbell, J., Chen, Y., Jiang, Y., Paskevich, P. A., Cataldo, A. M., Haroutunian, V. & Nixon, R. A. 2008. Marked calpastatin (CAST) depletion in Alzheimer's disease accelerates cytoskeleton disruption and neurodegeneration: neuroprotection by CAST overexpression. J Neurosci, 28, 12241-12254.
  27. Sajdel-Sulkowska, E. M., Lipinski, M., Windom, H., Audhya, T. & Mcginnis, W. 2008. Oxidative Stress in Autism: Elevated Cerebellar 3-nitrotyrosine Levels. Am J Biochem Biotech, 4, 73-84.
  28. Scherzer, C. R., Grass, J. A., Liao, Z., Pepivani, I., Zheng, B., Eklund, A. C., Ney, P. A., Ng, J., Mcgoldrick, M., Mollenhauer, B., Bresnick, E. H. & Schlossmacher, M. G. 2008. GATA transcription factors directly regulate the Parkinson's disease-linked gene alpha-synuclein. Proc Natl Acad Sci U S A,105, 10907-10912.
  29. Schmitz, C. & Rezaie, P. 2008. The neuropathology of autism: where do we stand? Neuropathol Appl Neurobiol, 34, 4-11.
  30. Stopa, E. G., Butala, P., Salloway, S., Johanson, C. E., Gonzalez, L., Tavares, R., Hovanesian, V., Hulette, C. M., Vitek, M. P. & Cohen, R. A. 2008. Cerebral cortical arteriolar angiopathy, vascular beta-amyloid, smooth muscle actin, Braak stage, and APOE genotype. Stroke, 39, 814-821.
  31. Tobin, J. E., Latourelle, J. C., Lew, M. F., Klein, C., Suchowersky, O., Shill, H. A., Golbe, L. I., Mark, M. H., Growdon, J. H., Wooten, G. F., Racette, B. A., Perlmutter, J. S., Watts, R., Guttman, M., Baker, K. B., Goldwurm, S., Pezzoli, G., Singer, C., Saint-Hilaire, M. H., Hendricks, A. E., Williamson, S., Nagle, M. W., Wilk, J. B., Massood, T., Laramie, J. M., Destefano, A. L., Litvan, I., Nicholson, G., Corbett, A., Isaacson, S., Burn, D. J., Chinnery, P. F., Pramstaller, P. P., Sherman, S., Al-Hinti, J., Drasby, E., Nance, M., Moller, A. T., Ostergaard, K., Roxburgh, R., Snow, B., Slevin, J. T., Cambi, F., Gusella, J. F. & Myers, R. H. 2008. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology, 71, 28-34.
  32. Van Kooten, I. A., Palmen, S. J., Von Cappeln, P., Steinbusch, H. W., Korr, H., Heinsen, H., Hof, P. R., Van Engeland, H. & Schmitz, C. 2008. Neurons in the fusiform gyrus are fewer and smaller in autism. Brain, 131, 987-999.
  33. Whitney, E. R., Kemper, T. L., Bauman, M. L., Rosene, D. L. & Blatt, G. J. 2008a. Cerebellar Purkinje cells are reduced in a subpopulation of autistic brains: a stereological experiment using calbindin-D28k. Cerebellum, 7, 406-416.
  34. Whitney, E. R., Kemper, T. L., Rosene, D. L., Bauman, M. L. & Blatt, G. J. 2008b. Calbindin-D28k is a more reliable marker of human Purkinje cells than standard Nissl stains: a stereological experiment. J Neurosci Methods, 168, 42-47.
  35. Woo W, Kim A, Viscidi E.  PMID: 18534564Disease-specific alterations in glutamatergic neurotransmission on inhibitory interneurons in the prefrontal cortex in schizophrenia.  Brain Res . 2008 Jul 7;1218:267-77.
  36. Woo, T. U. W., Kim, A. M. & Viscidi, E. 2008a. Disease-specific alterations in glutamatergic neurotransmission on inhibitory interneurons in the prefrontal cortex in schizophrenia. Brain Res, 1218, 267-277.
  37. Woo, T. U. W., Shrestha, K., Lamb, D., Minns, M. M. & Benes, F. M. 2008b. N-methyl-D-aspartate receptor and calbindin-containing neurons in the anterior cingulate cortex in schizophrenia and bipolar disorder. Biol Psychiatry, 64, 803-809.
  38. Yip, J., Soghomonian, J. J. & Blatt, G. J. 2008. Increased GAD67 mRNA expression in cerebellar interneurons in autism: implications for Purkinje cell dysfunction. J Neurosci Res, 86, 525-530.

HBTRC 2007
  1. Abdolmaleky HM, Thiagalingam S.  Epigenetic Alterations of the Dopaminergic System in Major Psychiatric Disorders.  Accepted as a chapter of a book by Humana Press. 2007
  2. Abu-Elneel, K., Liu, T., Gazzaniga, F. S., Nishimura, Y., Wall, D. P., Geschwind, D. H., Lao, K. & Kosik, K. S. 2008. Heterogeneous dysregulation of microRNAs across the autism spectrum. Neurogenetics, 9, 153-161.
  3. Bäckman CM, Shan L, Zhang Y-J, Hoffer BJ, and Tomac AC.  Alterations inprodynorphin, proenkephalin and GAD67 mRNA levels in the aged human putamen: a correlation with Parkinson’s disease. Journal of Neuroscience Research, 85 (4): 798-804, 2007
  4. Battista, N., Bari M., Tarditi A., Mariotti C., Bachoud-L´evi A.C., Zuccato C.,, Finazzi-Agrò A., Genitrini S., Peschanski M., Di Donato S., Cattaneo E., Maccarrone M. Severe deficiency of the fatty acid amide hydrolase (FAAH) activity segregates with the Huntington’s Disease mutation in peripheral lymphocytes. Neurobiology of Disease, (2007).
  5. Benes FM, Lim B, Matzilevich D, Walsh JP, Subburaju S, Minns M.  Regulation of the GABA cell phenotype in hippocampus of schizophrenics and bipolars. Proc Natl Acad Sci U S A. 2007
  6. Benes, F.M.  Searching for unique endophenotypes for schizophrenia and bipolar disorder within neural circuits and their molecular regulatory mechanisms.  Schizophrenia Bulletin 2007:  In press.
  7. Berretta S, Pantazopolous H, Lange N PMID: 17698040 Neuron numbers and volume of  the amygdala in subjects diagnosed with bipolar disorder or schizophrenia. Biological Psychiatry (2007))
  8. Buttner, E.A., Bhattacharyya, S., Walsh, J., Benes, F.M.  DNA fragmentation is increased in non-GABAergic neurons in bipolar disorder.  Schizophrenia Research 2007; 93: 33-41.
  9. Campbell DB, D’Oronzio R, Garbett K, Ebert PJ, Mirnics K, Levitt P, and Persico AM.  Disruption of Cerebral Cortex MET Signaling in Autism Spectrum Disorder.  Annals of Neurology, 2007.
  10. Cantuti-Castelvetri et al.  Effect of gender on nigral gene expression and Parkinson Disease,  Neurobiology of Disease, doi: 10.1016/j/nbd. 2007.02.009 in press
  11. Costa E, Dong E, Grayson DR, Guidotti A, Ruzicka WB, Veldic M.  Reviewing the role ofDNA (cytosine-5) methyltransferase overexpression in the cortical GABAergic dysfunction associated with psychosis vulnerability. Epigenetics 2007 (in press).
  12. Desplats PA, Denny CA, Kass KE, Gilmartin T, Head SR, Sutcliffe JG, Seyfried TN, Thomas EA.  Glycolipid and ganglioside metabolism imbalances in Huntington’s Disease.  Neurobiology of Disease 7; 2007: 265-277.
  13. Hogart A, Nagarajan RP, Patzel KA, Yasui DH, LaSalle JM.  2007.  15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.  Hum. Mol. Genet. 16:691-703.
  14. Inoue H, Lin L, Lee X, Shao Z, Mendes S, Snodgrass-Belt P, Sweigard H, Engber T, Pepinsky B, Yanf L, Beal MF, Sha M, Isacson O.  Inhibition of the LRR-protein LINGO-1 enhances survival, structure and function of dopaminergic neurons in Parkinson’s disease models.  PROCEEDINGS OF NATIONAL ACADEMY OF SCIENCES, 104 (36) 14430-14435
  15. Ishikawa M, Mizukami K, Iwakiri M, Hidaka S, Asada T.  Immunohistochemical and immunoblot analysis of Dopamine and cyclic AMP-regulated phosphoprotein, relative molecular mass 32,000 (DARPP-32) in the prefrontal cortex of subjects with schizophrenia and bipolar disorder.  Progress in Neuropsychopharmacology  & Biological Psychiatry 2007 (in press).
  16. Itoh M, Ide S, Takashima S, et al.  Methyl CpG-binding protein 2 (a mutation of which causes Rett Syndrome) directly regulates insulin-like growth factor binding protein 3 in mouse and human brains.  J Neuropathol Exp Neurol 2007;66:117-123
  17. Kumar, P., Ambasta, R., Veeresh, V., Rosen, K., Kosik, K., Band, H., Mestril, R., Patterson, C., Querfurth, H. CHIP and HSPs interact with bAPP in a proteasome-dependent manner and influsence Ab metabolism. Hum. Mol. Genetics. 16:7, 848-864, 2007.
  18. Lahousse SA, Stopa EG, Mulberg AE, de la Monte SM.  Reduced expression of the cystic fibrosis transmembrane conductance regulator gene in the hypothalamus of patients with Alzheimer’s disease.  J Alzheimers Dis. Dec;5(6):455-62, 2003.
  19. Marks N, Berg MJ.  Glucosyl ceramide synthase in Alzheimer’s brain correlates with abonormal increase in long chain ceramides (inCer), 32nd FEBS Congress, submitted. 2007
  20. McNamara RK, Hahn CG, Jandacek R, Rider T, Tso P, Stanford KE, and Richand NM.  Selective Deficits in the Omega-3 Fatty Acid Docosahexaeonic Acid in the Postmortem Orbitofrontal Cortex of Patients with Major Depressive Disorder.  Biological Psychiatry, 62(1):17-24, 2007.
  21. McNamara RK, Jandecek R, Rider T, Tso P, Stanford KE, Hahn CG, and Richtand NM.    PMID: 18715653Deficits in Docosahexaenoic Acid and Associated Elevations n the Metabolism of Arachidonic Acid and Saturated Fatty Acids in the Postmortem Orbitofrontal Cortex of Patients with Bipolar Disorder. Psychiatry Research, 160(3):285-99.
  22. McNamara RK, Jandecek R, Rider T, Tso P, Stanford KE, Hahn CG,  Richtand NM,  Stanford K.  Abnormalities in the Fatty Acid Composition of the Postmortem Orbitofrontal Cortex of Schizophrenia Patients:  Gender Differences and Partial Normalization with Antipsychotic Medications.  Schizophrenia Research, 91(1-3):37-50, 2007.
  23. Nguyen T, Galvan V, Zhang J, Bredesen DE.  2007.  p21-activated kinase signaling requires C-terminal cleavage of APP at Asp664.  J Neurochem.  In press.
  24. Pandy G, Ren X, Rizavi H, Teppen T, Dwivedi Y.  Protein kinase C in postmortem brain of bipolar and schizophrenia subjects (under preparation).  2007
  25. Pantazopoulos H, Lange N, Baldessarini RJ, Berretta S. Parvalbumin neurons in the entorhinal cortex of subjects diagnosed with bipolar disorder or schizophrenia. Biol Psychiatry 61:640-652 (2007).
  26. Perkins DO, Jeffries C, Jarskog LF, Thompson JM, Newman M, Parker JS, Jin J, Hammond SM.  MiRNA expression profiling in the prefrontal cortex of individuals with schizophrenia.  Genome Biology. 2007;8(2):R27.  Full online access (doi;10.1186/gb-2007-9-2-r27). In press.
  27. Rioux, L., Chiappelli, J. and Brisbone, G (2007) Neuregulin 1 and ErbB receptors in the human olfactory bulb, in preparation
  28. Rioux, L., Reichenberger, E.R., Fan, Y.L., Bertrand, L. and J. Nissanov (2007) Postmortem estimation of olfactory bulb volume in schizophrenia, in preparation
  29. Siegmund KD, Connor C, Campan M, Long TI, Weisenberger DJ, Biniszkiewicz D, Jaenisch R, Laird P, Akbarian S. DNA Methylation in the Human Cerebral Cortex Is Dynamically Regulated throughout the Life Span and Involves Differentiated Neurons September 19, 2007
  30. Veldie M, Kadriu B, Maloku E, Agis-Balboa RC, Guidotti A, Davis JM, Costa E.  Epigenetic mechanisms expressed in basal ganglia GABAergic neurons differentiate schizophrenia from bipolar disorder. Schizophrenia Research 91:51-61, 2007
  31. Woo W,  Shrestha K, Amstrong C,  Minns M,  Walsh JP, Benes FM.  Differential alterations of kainate receptor subunits in GABAergic interneurons in the anterior cingulate cortex in schizophrenia and bipolar disorder.  Schizophrenia Research 2007; in press.
  32. Wu J, Chang Y, Li G, Xue F, Dechon J, Ellsworth K, Liu Q, Yang K, Bahafroani N, Zheng C, Zhang J, Rekate H, Rho JM, Kerrigan JF.  Electrophysiological Properties and Subunit Composition of GABAA Receptors in Patients with Gelastic Seizures and Hypothalamic Hamartoma.  J Neurophysiol 2007 (In print)
  33. Yoon DY, Gause CD, Leckman JF, Singer HS.  Frontal dopaminergic abnormality in Tourette syndrome: A postmortem analysis.  Neurosci 15;255-:50-6, 2007
  34. Zuccato C., Belyaev N., Conforti P., Ooi L., Tartari M., Papadimou E., MacDonald M.E.,Fossale E., Zeitlin S., Buckley N.J. and Cattaneo E.  Widespread disruption of REST/NRSF occupancy of its target genes in Huntington’s Disease. J.  Neurosci, June 27, 2007, 27(26):6972- 6983.

HBTRC 2006
  1. Abdolmaleky HM, Cheng H-h, Faraone SV, Wilcox M, Glatt SJ, Fangming  G, Smith C,  Shafa R, Aeali B, Carnevale J, Pan H, Papageorgis P,  Ponte JF, Sivaraman V, Tsuang MT, Thiagalingam S.  Hypomethylation of MB-COMT promoter is a major risk factor for schizophrenia and bipolar disorder. Human Molecular Genetics, 15;21:3132-3134 2006.
  2. Akbarian S, Huang HS.  2006.  Molecular and cellular mechanisms of altered GAD1/GAD67 expression in schizophrenia and related disorders.  Brain Res Brain Res Rev 2006 Jun 5; PMID 16759710 [epub ahead of print].
  3. Bäckman CM, Shan L, Zhang Y-J, Hoffer BJ, Leonard S, Troncoso JC, Vonsatel P and TomacAC. Gene expression patterns for GDNF and its receptors in the human putamenaffected by Parkinson’s disease: A real-time PCR study. Molecular and Cellular Endocrinology, 252: 160-166, 2006.
  4. Banigan, M. G., Kao, P. F., Kozubek, J. A., Winslow, A. R., Medina, J., Costa, J., Schmitt, A., Cabral, H., Vanderburg, C. R. & Delalle, I. 2013. Differential expression of exosomal miRNAs in prefrontal cortices of schizophrenia and bipolar disorder patients.  PLoS One, In press.
  5. Banwait S, Galvan V, Ataie M, Gorostiza O, Crippen D, Bredesen DE.  2006.  Asp664-cleaved forms of amyloid precursor protein in AD and non-diseased human brain.  Submitted for publication.
  6. Beasley, C. L., Pennington, K., Behan, A., Wait, R., Dunn, M. J. & Cotter, D. 2006. Proteomic analysis of the anterior cingulate cortex in the major psychiatric disorders: Evidence for disease-associated changes.  Proteomics, 6, 3414-3425.
  7. Benes, F.M. The regulation of apoptosis in the limbic lobe of schizophrenia and bipolar disorder. Chapter 8, Section II In:  Functional Genomics and Proteomics in the Clinical Neurosciences.  Progress in Brain Research Series. Hemby. S.E., Bahn, S. (Eds.); Elsevier, Amsterdam; 2006; pp.153-172 .
  8. Benes, F.M.  A Neurodevelopmental approach to the understanding of schizophrenia and other mental disorders.  In:  Developmental Psychopathology. Second Edition. Vol. II: Developmental Neuroscience.  Cicchetti, D. and Cohen, D.J. (Eds.);  John Wiley and Sons, Inc. 2006; pp. 216-258.
  9. Benes, F.M., Gisabella, B.  GABAergic dysfunction in schizophrenia and bipolar disorder.  Advances in Pharmacology 2006; 54:73-93.
  10. Benes, F.M., Matzilevich, D., Burke, R., Walsh, J.P.  The expression of pro-apoptosis genes is increased in bipolar disorder, but not in schizophrenia.  Molecular Psychiatry 2006; 11:241-251
  11. Berretta, S., Benes, F.M.  A rat model for neural circuitry abnormalities in schizophrenia.  Nature Protocols 2006; 1:  836-839. (doi:10.1038/nprot.2006.110)
  12. Brimacombe M, Pickett J, Pickett R. 2006.  Autism Post-Mortem Neuroinformatic Resource: The Autism Tissue Program (ATP) Informatics Portal. J Autism Dev Disord. 2006 Aug 24; [Epub ahead of print].
  13. Burke, R.E., Walsh, J.P., Matzilevich, D., Benes, F.M.  Mapping of hippocampal gene clusters regulated by the amygdala to non-linkage sites for schizophrenia.  Molecular Psychiatry 2006:11:158-171.
  14. Buxhoeveden, DB, Semendeferi, K, Buckwalter, J, Schenker, N, Switzer, R and E Courchesne.  2006.  Reduced minicolumns in the frontal cortex of patients with autism.  Neuropathology and Applied Neurobiology 32:1-9. 
  15. Casanova MF.  Neuropathological and genetic findings in autism: the significance of a putative minicolumnopathy. Neuroscientist. 2006 Oct;12(5):435-41.
  16. Casanova MF, van Kooten IA, Switala AE, van Engeland H, Heinsen H, Steinbusch HW, Hof PR, Trippe J, Stone J, Schmitz C.  2006.  Minicolumnar abnormalities in autism. Acta Neuropathol (Berl). 2006 Sep;112(3):287-303. Epub 2006 Jul 4.
  17. Desplats PA, Kass KE, Gilmartin T, Stanwood GD, Head SH, Sutcliffe JG, Thomas EA. Selective deficits in the expression of striatal-enriched mRNAs in Huntington’s Disease.  J Neurochem 96:743-757, 2006.
  18. Donahue JE, Flaherty SL, Johanson CE, Duncan JA III, Silverberg GD, Tavares R, Yang W, Wu Q, Hovanesian V, Stopa EG, “RAGE, LRP-1, and amyloid-beta protein in Alzheimer’s disease,” Acta Neuropathol 2006 Oct; 112:405-15.
  19. Eberhart, C, Copeland, J & T Abel.  2006.  Brief Report: S6 Ribosomal Protein Phosphorylation in Autistic Frontal Cortex and Cerebellum: a Tissue Array Analysis.  J Autism Dev Disord. 36:1131-1136.
  20. Eyal A, Szargel R, Avraham E, Liani E, Haskin J, Rott R, and Engelender S.  Synphilin-1A: An aggregation-prone isoform of synphilin-1 that causes neuronal death and is present in aggregates from a-synucleinopathy patients.  PROCEEDINGS OF NATIONAL ACADEMY OF SCIENCES 103:5917-5922, 2006.
  21. Floor E, Maples AM, Rankin CA, Yaganti VM, Shank SS, Nichols GS, O’Laughlin MO, Galeva NA, Williams TD.  A one-carbon modification of protein lysine associated with oxidative stress in human substantia nigra.  J Neurochem 97;504-514, 2006.
  22. Ishikawa M, Mizukami K,  Asada T.  Alterations in ubiquilin in the postmortem prefrontal cortex of subjects with schizophrenia.  36th Annual Meeting Society for Neuroscience (Atlanta), October, 2006
  23. Jang J, Jo D-G, Chung C-W, Jung Y-K.  Novel genes, ADRG2 and ADRG4, isolated by cell-based functional screening increases Ab generation by enhancing g-secretase activity. Neuroscience 2006
  24. Koul, O.  Myelin in Autism, Chapter in The Neurobiology of Autism, ed. Bauman ML and Kemper T, Johns Hopkins Univ. Press, Baltimore, MD, 2006.
  25. Lipinski B, Sajdel-Sulkowska EM.  New insight into Alzheimer disease: demonstration of fibrin(ogen)-serum albumin insoluble deposits in brain tissue.  Alzheimer Disease and Associated Disorders.  20:323-326, 2006.
  26. MacDonald AB.  Alzheimer’s disease Braak Stage progressions:  Reexamined and redefined as Borrelia infection transmission through circuits.  Med Hypotheses (2006), doi:10.1016/j.mehy.  2006.09.054.
  27. MacDonald AB.  Alzheimer’s neuroborreliosis with trans-synpatic spread of infection and neurofibrillary tangles derived from intraneuronal spirochetes.  Med Hypotheses (2006), doi:10.1016/j.mehy.2006.08.043.
  28. MacDonald AB.  Spirochetal cyst forms in neurodegenerative disorders, hiding in plain sight.  Med Hypotheses (2006) doi:10.1016/j.mehy.2006.04.025.
  29. Martchek M, Thevarkunnel S, Bauman M, Blatt G, Kemper T. (2006) Lack of evidence of neuropathology in the locus coeruleus in autism. Acta Neuropathol (Berl). 111:497-9.
  30. Nagarajan RP, Hogart A, Gwye Y, Martin M, and LaSalle JM. 2006. Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation Epigenetics, 4:172-182.
  31. Peddada S, Yasui DH, and LaSalle, JM.  2006.  Inhibitors of differentiation (ID1, ID2, ID3, ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome. Hum. Mol. Genet. 15:2003-2014.
  32. Pickett et.al.  2006.  1998-2002 update on causes of death in autism [letter].  Journal of Autism and Developmental Disorders. [E-publication ahead of print]
  33. Schumann CM and Amaral DG.  Stereological evidence for fewer neurons in the Autistic Amygdala.  J Neurosci, 2006,19 ;26(29) :7674-9.
  34. Schumann CM and Amaral DG.  The Social Brain, Amygdala and Autism in Understanding Autism : From basic Neurtoscience to Treatment. Ed. SO Moldin and JLR Rubenstein.  Taylor & Francis Group, Boca Raton, FL, 2006 CRC Press.
  35. Thatcher KN and LaSalle JM. 2006.  Dynamic changes in Histone H3 lysine 9 acetylation localization patterns during neuronal maturation require MeCP2.  Epigenetics. 1:24-31.
  36. Zipser BD, Johanson CE, Gonzalez L, Berzin TM, Tavares R, Hulette CM, Vitek MP, Hovanesian V, Stopa EG. Microvascular injury and blood-brain barrier leakage in Alzheimer's disease. Neurobiol Aging. 2006 Jun 15.

HBTRC 2005
  1. Abdolmaleky HM, Cheng H-h, Russo A, Smith CL, Faraone SV, Wilcox M, Shafa R, Glatt SJ, Nguyen G, Ponte JF, Thiagalingam S, Tsuang MT.  Hypermethylation of the reelin  (RELN) promoter in the brain of schizophrenic patients:  A Preliminary Report.  Amer J Med Genetics, 134B:60-66 2005.
  2. Armstrong D.  Neuropathology of Rett Syndrome.  J Neuropathol Ex Neurol.  2005;20:747-752.
  3. Babu JR, Geetha T, Wooten, MW.  Sequestosome 1/p62 shuttles polybiquitinated tau for proteaseomal degradation.  J Neurochem  94:192-203, 2005
  4. Benes, F.M. Ethical issues in brain banking. Editorial. Current Opinion in Psychiatry; 2005; in press.
  5. Benes, F.M., Pare, Paré-Blagoev, J.  Brain Bases of Reading Disabilities, Chapter 7.  Mind, Brain, and Education in Reading Disorders, Fischer, K. and Bernstein, J. (Eds.). Cambridge University Press, Cambridge, U.K.; 2005; In press.
  6. Blatt, G.J. (2005) GABAergic cerebellar system in autism: A neuropathological and developmental perspective.  Int. Rev. Neurobiol. 71:167-178.
  7. Cantuti-Castelvetri et al.  Alpha-synuclein and Chaperones in Dementia with Lewy Bodies.  Journal of Neuropathology and Experimental Neurology, 2005.
  8. Cantuti-Castelvetri et al.  Somatic Mictochondrial Mutations in Single Neurons and Glia.  Neurobiology of Aging, 26:1343-1355, 2005.
  9. Cottrell BA, Galvan V, Banwait S, Gorostiza O, Lombardo CR, Williams T, Peel AL, Koo EH, aand Bredesen DE.  A pilot proteomic study of amyloid precursor protein interactors in Alzheimer’s disease.  Ann Neurol 2005; 58:277-289.
  10. Fatemi SH, Snow AV, Stary JM, Ataghi-Niknam TJ, Lee, Brooks AL, Pearce DA.  Reelin signaling is impaired in autism.  Bio Psychiatry 57:777-787,2005.
  11. Frenzel, C.  Tantalizing Clues; Hope for the Future through the Autism Tissue Program. 2005.  Autism Spectrum Quarterly, Winter 2005.
  12. Gisabella, B., Bolshakov, V., Benes, F.M.  Regulation of synaptic plasticity in a schizophrenia model.  Proceedings of the National Academy of Sciences 2005; 102 (37): 13301-13306.
  13. Glatt SJ, Everall IP, Kremen WS, Corbeil J, Sasik R, Khanlou N, Han M, Liew CC, Tsuang MT.  Comparative gene expression analysis of blood and brain provides concurrent validation of SELENBP1 up-regulation in schizophrenia.  Proceedings of National Academy of Sciences 102:43;15533-15538, 2005
  14. Guidotti A, Auta J, Davis J, Dong E, Grayson DR, Veldie M, Zhang X, Costa E.  Psychopharm (Berl) 180:191-205, 2005
  15. Harper DG, Volicer L, Stopa EG, McKee AC, Nitta M, Satlin A.  Disturbance of endogenous circadian rhythm in aging and Alzheimer disease.  Am J Geriatr Psychiatry. 2005 May;13(5):359-68
  16. Hoffner G and P. Djian. Transglutaminase and diseases of the central nervous system. Frontiers Biosc. 2005, 10:3078-3092.
  17. Hoffner G, Island M.-L and Djian P. Purification of neuronal inclusions of patients with Huntington disease reveals a broad range of N-terminal fragments of expanded huntingtin and insoluble polymers. J. Neurochem. 2005, 95:125-136.
  18. Ishikawa M, Mizukami K, Iwakiri M, Hidaka S, Asada T.  Immunohistochemical and immunoblot analysis of gamma-aminobutyric acid B receptor in the prefrontal cortex of subjects of  with schizophrenia and bipolar disorder.   Neurosci Letters 2005; 383 (3):272-277
  19. Ishikawa M, Mizukami K, Iwakiri M, Hidaka S, Sasaki M, Asada T.  GABAA   a1 and b2/3 subunits in the prefrontal cortex of subjects with schizophrenia and bipolar disorder.  XII World Congress of Psychiatry (Yokohama), August 24-29, 2002.
  20. Laurence JE, Fatemi SH.  Glial fibrillary acidic protein is elevated in superior frontal, parietal and cerebellar cortices of autistic subjects.  Cerebellum 4:206-210, 2005.
  21. MacDonald AB.  A life cycle for Borrelia Spirochetes?  Med Hypotheses (2005) doi:10.1016/j.mehy.2006.03.028.
  22. MacDonald AB.  Plaques of Alzheimer’s disease originate from cycts of Borrelia burgdorferi, the Lyme disease spirochete. Med Hypotheses (2005) doi:10.1016/j.mehy.2006.03.028.
  23. MacDonald AB.  Transfection “Junk” DNA – A link to the pathogenesis of Alzheimer’s disease?  Med Hypotheses (2005) doi:10.1016/j.mehy.2005.12.028.
  24. Pardo, CA, Vargas, DL & AW Zimmerman. 2005.  Immunity, neuroglia and neuroinflammation in autism.  International Review of Psychiatry, December 2005; 17(6): 485–495.
  25. Pickett J. & London E. 2005.  The Neuropathology of Autism: A Review.  Journal of Neuropathology and Experimental Neurology.  64(11):1-11.
  26. Ray MA, Graham AJ, Lee M, Perry RH, Court JA, Perry EK. 2005. Neuronal nicotinic acetylcholine receptor subunits in autism: an immunohistochemical investigation in the thalamus. Neurobiol Dis. Aug;19(3):366-77.
  27. Redcay E & Courchesne E.  When is the brain enlarged in autism? A meta-analysis of all brain size Reports. Biol Psychiatry. 2005 Jul 1;58(1):1-9.
  28. Samaco RC, Hogart A, and LaSalle JM.  2005. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum. Mol. Genet.  14:483-492.
  29. Schumann CM and Amaral DG.  Steriological estimation of the number of neurons in the human amygdaloid complex.  Journal of Comparative Neurology, 2005 ;491(4) :320-9.
  30. Thatcher KN, Peddada S, Yasui DH, and LaSalle JM. 2005.  Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples. Hum. Mol. Genet. 14:785-797.
  31. Todtenkopf, M.S., Vincent, S.L and Benes, F.M.  A cross-study meta-analysis and 3-dimensional validation of cell counting in cingulate cortex of schizophrenic and bipolar brain.  Schizophrenia Research 2005; 73:79-89.
  32. Vargas D.L., Nascimbene, C. Krishnan, C. Zimmerman, A.W. and Pardo, C.A.  2005.  Increased neuroglial activation and neuroinflammation in the brain of patients with autism.  Annals of Neurology 57(1):67-81.
  33. Veldic M, Guidotti A, Maloku E, Davis J, Costa E.  In psychosiscortical interneurons overexpress DNA-methyltransferase1.  PROCEEDINGS OF NATIONAL ACADEMY OF SCIENCES 102;2152-2157, 2005

HBTRC 2004
  1. Armstrong D.  Can we relate MeCP2 deficiency to the structural and chemical abnormalities in the Rett brain? , Brain and Development (2004). 
  2. Benes, F.M.  Deserving the last great gift:  The ethics of brain banking.  Cerebrum 2004; In press.
  3. Benes, F.M.  Editorial:  The role of apoptosis in neuronal pathology in schizophrenia and bipolar disorder.  Editorial. Current Opinion in Psychiatry 2004; 17:189-190.
  4. Benes, F.M.  Invited Editorial: Schizophrenia by Robert Freedman, M.D., for Neurology Watch, New England Journal of Medicine 2004, In press.
  5. Benes, F.M.  The development of “mis-wired” limbic lobe circuitry in schizophrenia and bipolar disorder.  In:  Neurodevelopment and Schizophrenia, Part III.  Pathophysiology.  Keshavan, M.S., Kennedy, J.L., Murray, R.J. (Eds.).  Cambridge University Press, Cambridge, U.K.; 2004;  pp. 295-309.
  6. Benes, F.M.  The development of “mis-wired” limbic lobe circuitry in schizophrenia and bipolar disorder.  Psychiatric Times, January, 2004:  21:  48-49.
  7. Braunschweig D, Simcox T, Samaco RC, and LaSalle JM.  2004.  X-chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain. Hum. Mol. Genet. 13:1275-1286.
  8. Cataldo AM, Petanceska S, Terio NB, Peterhoff CM, Troncoso J, Durham R, Mercken M, Mehta PD, Buxbaum J, Haroutunian V, Nixon RA.  Endosomal Pathology and Increased Ab Levels Coincide in Alzheimer’s Disease. Neurobiol Aging 2004; 25:1263-1272.
  9. Cataldo AM, Peterhoff CM, Schmidt SD, Duff K, Mathews PM, Beard M, Nixon RA.  Presenilin mutations in familial Alzheimer’s disease and transgenic mouse models accelerate neuronal lysosomal pathology.  J Neuropathol Exp Neurol 2004; 63:821-830.
  10. Chang HT, Cortez S, Vonsattel JP, Stopa EG, Schelper RL.  Familial frontotemporal dementia:  a report of three cases severe cerebral atrophy with rare inclusions that are negative for tau and synuclein, but positive for ubiquitin.  Acta Neuropathology (Berl).  2004 July; 108(1):10-6.  Epub 2004 Apr 2.
  11. Courchesne E. 2004. Brain Development in autism: early overgrowth followed by premature arrest of growth.  Ment Retard Dev Disabil Res Rev.10(2):106-11.
  12. Harper DG, Stopa EG, McKee AC, Satlin A, Fish D, Volicer L.  Dementia severity and Lewy boies affect circadian rhythm in Alzheimer disease.  Neurobiol Aging 2004 Jul(6):771-81
  13. Hong JJ, Loiselle CR, Yoon DY, Lee O, Becker KG, Singer HS.  Microarray analysis in Tourette syndrome portmortem putamen.  J Neurological Sciences 225;57-64, 2004
  14. Ishikawa M, Mizukami K, Iwakiri M, Hidaka S, Asada T.  GABAA receptor gamma subunits in the prefrontal cortex of patients with schizophrenia and bipolar disorder. Neuroreport  2004;15(11):1809-1812
  15. Ishikawa M, Mizukami K, Iwakiri M, Hidaka S, Asada T.  Immunohistochemical and immunoblot study of GABA(A) alpha1 and beta2/3 subunits in the prefrontal cortex of subjects with schizophrenia and bipolar disorder.  Neurosci Research 2004; 50(1):77-84
  16. Jiang, Y-H., Sahoo, T., Michaelis, R.C.,  Bercovich, D., Bressler, J., Kashork, C.D.,  Liu, Q., Shaffer, L.G., Schroer,R.J.,  Stockton, D.W., Spielman, R.S., Stevenson, R.E. &  Beaudet; A.L.  2004.  A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A.  Am J Med Genet A. Nov 15;131(1):1-10.
  17. Junaid, M.A., Kowal, D., Barua, M., Pullarkat, P.S., Skower-Brooks, S., and Pullarkat, R.K.(2004) Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factor. Am J Med Genet 2004 Sep 22;[epub ahead of print].
  18. Konradi, C., Walsh, J., Benes, F., Heckers, S.   Down-regulation of electron transport enzymes in hippocampus of bipolar disorder. Archives of General Psychiatry 2004: 61:300-308.
  19. Martin-Ruiz CM, Lee M, Perry RH, Baumann M, Court JA, Perry EK. 2004. Molecular analysis of nicotinic receptor expression in autism.  Brain Res Mol Brain Res.  Apr 7;123(1-2):81-90.
  20. Minzer K, Lee O, Hong JJ, Singer HS. Increased prefrontal D2 protein in Tourette syndrome: a postmortem analysis of frontal cortex and striatum.  J Neurological Sci 219;55-61, 2004
  21. Mukaetova-Ladinska EB, Arnold H, Jaros E, Perry R, Perry E. 2004. Depletion of MAP2 expression and laminar cytoarchitectonic changes in dorsolateral prefrontal cortex in adult autistic individuals. Neuropathol Appl Neurobiol. 2004 Dec;30(6):615-23.
  22. Palmen SJ, van Engeland H, Hof PR, Schmitz C. 2004.  Neuropathological findings in autism.  Brain. 2004 Dec;127(Pt 12):2572-83. Epub 2004 Aug 25.
  23. Pantazopoulos, X., Stone, D., Walsh, J.P., Benes, F.M.  Differences in the cellular distribution of D1 receptor mRNA in the hippocampus of bipolars and schizophrenics. Synapse, 2004; 54: 147-155.
  24. Peel AL,  Sorscher N, Kim J, Galvan V, Chen S and Bredesen DE.  Tau phosphorylation in Alzheimer’s disease.  NeuroMol Med 2004; 5 205-218.
  25. Samaco RC, Nagarajan RP, Braunschweig D, and LaSalle JM.  2004.  Multiple pathways regulate MeCP2 expression in normal human brain development and exhibit defects in autism-spectrum disorders.  Hum. Mol. Genet.  13:629-639.
  26. Veldic M, Caruncho HJ, Liu WS, Davis J, Satta r, Grayson DR, Guidotti A, Costa E.  DNA methyltransferase-1 (DNMT1) overexpression in telencephalic GABAergic interneurons of schizophrenia brains.  PROCEEDINGS OF NATIONAL ACADEMY OF SCIENCES 101:348-353, 2004
  27. Woo, W., Walsh, J., Benes, F.M.  Decreased expression of the NR2A subunit in GABAergic neurons in anterior cingulate cortex of schizophrenics and bipolars.  Archives of General Psychiatry 2004: 61: 649-657.

HBTRC 2003
  1. Anthony SG, Schipper, HM, Taveres R, Hovanesian V, Cortez S, Stopa EG and Johanson CE.  Stress protein expression in the Alzheimer-diseased choroid plexus.  Journal of Alzheimer’s Disease 5:171-177, 2003.
  2. Araghi-Niknam M, Fatemi SH.  Levels of Bc12 and P53 are altered in superior frontal and cerebellum of autistic subjects.  Cell Mol Neurobiol 23:945-952, 2003.
  3. Armstrong D.  Deguchi Kimiko, Antalffy B MECP2 in the Rett and the non-Rett brain.  J Child Neurology 2003;18:683-687.
  4. Armstrong D.  Rett Syndrome; The Challenge of the pathology.  Primary Psychiatry.  2003 10:59-63.
  5. Balmer D, Goldstine J, Rao YM, and LaSalle JM.  2003.  Elevated methyl CpG-binding protein 2 expression is acquired during postnatal human brain development and correlates with alternative polyadenylation. J. Mol.  Med.  81:61-68.
  6. Benes, F.M. , Berretta, S.  The GABA cell in relation to schizophrenia and bipolar disorder.  In:  Handbook of Medical Psychiatry.  Soares, J.C., Gershon, S. (Eds.). Marcel Dekker, Inc. New York; 2003; pp. 277-295.
  7. Benes, F.M.  Commentary.  A disturbance of late myelination as a trigger for Alzheimer’s disease.   Neurobiology of Aging 2003; In press.
  8. Benes, F.M.  Interactions of the dopamine, serotonin and GABA systems during childhood and adolescence. Influence of stress on the vulneribility for psychopathology.  In:  Neurodevelopmental Mechanisms of Psychopathology,” Cicchetti, D., Walker, E. (Eds.), Cambridge University Press, Cambridge; 2003; pp. 384-404.
  9. Benes, F.M.  Invited Commentary:  A disturbance of late myelination as a trigger for Alzheimer’s Disease. Neurobiology of Aging 2003;  25:41-43.
  10. Benes, F.M.  Is the GABA cell the final common pathway for the etiology and treatment of schizophrenia and bipolar disorder?  An Editorial.  Current Opinion in Psychiatry 2002; 15: 277-278.
  11. Benes, F.M.  Schizophrenia: Amygdalar fiber alteration as etiology?  American Journal of Psychiatry 2003; 160: 1053. 
  12. Benes, F.M.  Why does psychosis develop during adolescence and early adulthood?  Editorial.  Current Opinion in Psychiatry 2003; 16: 317-319.
  13. Benes, F.M., Walsh, J., Bhattacharyya, S., Sheth, A., Berretta, S.  DNA fragmentation is decreased in schizophrenia, but not bipolar disorder.  Archives of General Psychiatry 2003; 60:359-364.
  14. Casanova MF, Buxhoeveden D, Gomez J. 2003 Disruption in the inhibitory architecture of the cell minicolumn: implications for autism. Neuroscientist Dec;9(6):496-507
  15. Fatemi SH, Merz A, Realmuto GR.  The roles of Reelin, Bc12 and serotonin in cerebellar pathology in autism.  J Develop Phys Dis 15:1-22, 2003.
  16. Frenzel C. An update on autism brain tissue research; a summary of the 2002 IMFAR research findings.  Autism-Asperger’s Digest  Nov-Dec 2003.
  17. Iuchi S, Hoffner G, Verbeke P, Djian P and Green H. Oligomeric and polymeric aggregates formed by proteins containing expanded polyglutamine. Proc. Natl. Acad. Sci. USA. 2003, 100:2409-2414.
  18. Lee DA, Lopez-Alberola R, Bhattacharjee M.  Childhood autism: a circuit syndrome? Neurologist. 2003 Mar;9(2):99-109.
  19. Pickett, J. (2003) Autism Tissue Program: The Gift of Hope.  Exceptional Parent Magazine. Vol. 33 (6): 106-109.
  20. Song S, Kim S-Y, Hong Y-M, Jo D-G, Lee J-Y, Shim SM, Chung C-W, Seo SJ, Yoo YJ, Koh J-Y, Lee MC, Yates AJ, Ichijo H, and Jung Y-K.  Essential Role of E2-25K/Hip-2 in Mediating Amyloid-_ Neurotoxicity.  Molecular Cell, 12;553-563, 2003

HBTRC 2002
  1. Balmer D, Arredondo J, Samaco RC, and LaSalle JM. 2002.  MECP2 mutations in Rett syndrome adversely affect lymphocyte growth but do not affect imprinted gene expression in blood or brain.  Hum. Genet., 110:545-552.
  2. Benes, F.M. The neurobiology of schizophrenia.  In:  Textbook of Psychiatry.  Maj, M. (Ed.).  World Psychiatric Association Press.  2002: 81-105.
  3. Benes, F.M.  2D Versus 3D Counting:  A Response to two commentaries:  One from Selemon, Goldman-Rakic and Rajkowska and the other from H. Uylings. Biological Psychiatry 2002.
  4. Benes, F.M., Berretta, S.  Defining the role of specific limbic circuitry in schizophrenia and bipolar disorder.  In:  The Postmortem Brain in Psychiatric Research.  Agam, G., Belmaker, R.H., Everall, I. (Eds.). Kluwer Academic Publishers.  2002: pp. 211-234.
  5. Benes, F.M., Tamminga, C.A.  Neurobiology of Schizophrenia.  In:  Psychiatry as a Neuroscience.  Lopez-Ibor, J.J., Gaebel, W., Maj, M., Sartorious, N.  (Eds.) John Wiley and Sons, Ltd. West Sussex, UK; 2002;  pp. 197-237.
  6. Cantuti-Castelvetri et al.  Expression and acitivity of antioxidans in the brain in progressive supranuclear palsy.  Brain Research 930:170181, 2002.
  7. Fatemi SH, Halt A, Stary JM, Kanodia R, Schulz SC, Realmuto GR.  Glutamic acid decarboxylase proteins of 65 and 67 kDa are reduced in parietal and cerebellar cortices of autistic subjects.  Biol Psychiatry 62:805-810, 2002.
  8. Fatemi SH, Halt AR, Earle J, Kist DA, Thuras P, Realmuto G, Merz A.  A Reduced Purkinje cell size in cerebellum of patients with autism.  Cell Mol Neurobiol 22:171-175, 2002.
  9. Galvan V, Cheng S, Lu D, Koo EH and Bredesen DE.  Caspase cleavage of members of the amyloid presursor family of proteins.  J Neurochem 2002; 82:283-294.
  10. Heckers, S., Stone, D., Walsh, J., Shick, J., Koul, P., Benes, F.M.  Decreased expression of glutamatic acid decarboxylase (GAD)65 and 67 mRNA in bipolar disorder.  Archives of General Psychiatry 2002; 59: 521-529.
  11. LuGuang Luo, QuanFu Mao, IMD Jackson, EG Stopa.  Thyrotropin Releasing Hormone (TRH) in the Alzheimer Hippocampus.  J Alzheimers Dis. 2002 Apr;4(2):97-103.  PMID:  12417381 
  12. Salloway S, Gur T, Berzin T, Tavares R, Zipser B, Correia S, Hovanesian V, Fallon J, Kuo-Leblanc V, Glass D, Hulette C, Rosenberg C, Vitek M, Stopa E.  Effect of APOE genotype on microvascular basement membrane in Alzheimer’s disease.  J Neurosci 2002 Nov 15;203-204:183-7. 
  13. Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi H.  Insight into Rett syndrome :MeCP2 levels display tissue and cell-specific differences and correlate with neuronal maturation.  Human Molecular Genetics 2002,11,115-124.

HBTRC 2001
  1. Adamec E, Chang HT, Stopa EG, Hedreen JC, Vonsattel JP.Tau protein expression in frontotemporal dementias. Neurosci Lett. 2001 Nov 23;315 (1-2):21-4.
  2. Cataldo AM, Rebeck GW, Ghetti B, Hulette C, Lippa C, Van Broeckhoven C, Van Duijn C, Cras P, Bogdanovic N, Bird T, Peterhoff C, Nixon R;  Endocytic Disturbances Distinguish Among Subtypes of Alzheimer’s Disease and Related Disorders.  Ann of Neurol., 2001, 50:661-665.
  3. Costa E, Grayson DR, Mitchell CP, Tremolizzo L, Veldic M, Guidotti A.  GABAergic cortical neuron chromatin as a putative target to treat shizophrenia vulnerability.  Critical Reviews in Neurobiology 15:121-142, 2003.
  4. Fatemi SH, Halt AR, Realmuto G, Jalali-Mousavi M.  Reduction in anti-apoptic protein Bcl-2 in autistic cerebellum.  NeuroReport 12:929-933, 2001.
  5. Fatemi SH, Halt AR.  Altered levels of Bc12 and p53 Proteins in parietal cortex reflect deranged apoptic regulation in autism.   Synapse 42:281-284, 2001.
  6. Fatemi SH, Stary J, Halt A, Realmuto G.  Dysregulation of Reelin and Bc1-2 in autistic cerebellum.  J Autism Disorders 31:529-535, 2001.
  7. Gene J. Blatt, G.J., Fitzgerald, C.M., Guptill, J.T., Booker, A.B., Kemper, T.L. & Bauman, M.L. (2001).  Density and distribution of hippocampal neurotransmitter receptors in autism: An autoradiographic study.  Journal of Autism and Developmental Disorders 31: 537-544.
  8. Harper DG, Stopa EG, McKee AC, Satlin A, Harlan PC, Goldstein R, Volicer L.Differential circadian rhythm disturbances in men with Alzheimer disease and frontotemporal degeneration. Arch Gen Psychiatry. 2001 Apr;58(4):353-60
  9. Hemby, S.E., Sanchez, M.M. & Winslow, J.T.  (2001). Functional Genomics Approaches to A Primate Model of Autistic Symptomology. Journal of Autism and Developmental Disorders 31: 551-556.
  10. Junaid MA & Pullarkat RK (2001). Proteomic approach for the elucidation of biological defects in autism.  Journal of Autism and Developmental Disorders 31: 557-560.
  11. LaSalle JM, Goldstine J, Balmer D, and Greco CM.  2001.  Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression in normal and Rett syndrome brain by laser scanning cytometry. Hum. Mol. Genet. 10:1729-1740.
  12. Nixon RA, Mathews PM, Cataldo AM, Mohan PS, Schmidt SD, Duff K, Berg M, Marks N, Peterhoff C, Sershen H. (2001).  In Vivo Perturbation of Lysosomal Function Promotes Neurodegeneration in the PS1M146V/APPk670N. M671L Mouse Model of Alzheimer’s Disease Pathology.  In: Alzheimer’s Disease: Advances in Etiology, Pathogenesis and Therapeutics. (K. Iqbal, SS Sisodia and B. Winblad, eds.).  John Wiley and Sons Ltd., New York, 461-467.
  13. Nixon RA, Mathews PM, Cataldo AM.  The neuronal endosomal-lysosomal system in Alzheimer’s disease.  Journal of Alzheimer’s Disease 2001; 3:97-107.
  14. Perry EK, Lee ML, Martin-Ruiz CM, Court JA, Volsen SG, Merrit J, Folly E, Iversen PE, Bauman ML, Perry RH, Wenk GL. 2001. Cholinergic activity in autism: abnormalities in the cerebral cortex and basal forebrain. Am J Psychiatry. 2001 Jul;158(7):1058-66.
  15. Purcell, A.K., Jeon, O. & Pevsner, J. (2001). The Abnormal Regulation of Gene Expression in Autistic Brain. Journal of Autism and Developmental Disorders. 31: 545-550.
  16. Schumann, C.M., Buonocore, M.H. & Amaral, D.G. (2001).  MRI of the Post-Mortem Autistic Brain  Journal of Autism and Developmental Disorders 31: 561-569.
  17. Shavelle, R., Strauss, R. and Pickett, J.  (2001). Causes of Death in Autism.  Journal of Autism and Developmental Disorders 31: 569-576
  18. Stopa, EG, Kim, S, Song, P, Berzin, T, Kuo-Leblanc, V, Rodriguez-Wolf, M, Baird, A, and Johanson, CE.  Human choroid plexus growth factors:  What are the implications for CSF and brain? Exp Neurol. 2001 Jan;167(1):40-7.

HBTRC 2000
  1. Cataldo AM, Peterhoff CM, Troncoso J, Gomez-Isla T, Hyman B, Nixon RA:  Abnormalities of neuronal endocytosis precede b-amyloid deposition, are enhanced by APOE genotype and differentiate subtypes of Alzheimer’s disease.  American J. Pathol., 2000, 157:277-286.

HBTRC 1999
  1. Wegiel, J., Wisniewski, H. M., Dziewiatkowski, J., Badmajew, E., Tarnawski, M., Reisberg, B., Mlodzik, B., De Leon, M. J. & Miller, D. C. 1999. Cerebellar atrophy in Alzheimer's disease-clinicopathological correlations. Brain Res, 818, 41-50.

Mass General Brigham

McLean Hospital, Harvard Medical School Affiliate

Basic Neuroscience at McLean Hospital

Harvard Medical School Affiliate