Faculty

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Andrew Singleton
Clinical Instructor of Surgery (Fellow)
Surgery
GNH 2051 Marengo Street Health Sciences Campus Los Angeles

Publications

Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H. Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. Neurobiol Aging. 2016 Nov; 47:218. e1-218. e9. View in: PubMed

Momeni P, Cairns NJ, Perry RH, Bigio EH, Gearing M, Singleton AB, Hardy J. Mutation analysis of patients with neuronal intermediate filament inclusion disease (NIFID). Neurobiol Aging. 2006 May; 27(5):778. e1-778. e6. View in: PubMed

Kara E, Xiromerisiou G, Spanaki C, Bozi M, Koutsis G, Panas M, Dardiotis E, Ralli S, Bras J, Letson C, Edsall C, Pliner H, Arepalli S, Kalinderi K, Fidani L, Bostantjopoulou S, Keller MF, Wood NW, Hardy J, Houlden H, Stefanis L, Plaitakis A, Hernandez D, Hadjigeorgiou GM, Nalls MA, Singleton AB. Assessment of Parkinson's disease risk loci in Greece. Neurobiol Aging. 2014 Feb; 35(2):442. e9-442. e16. View in: PubMed

Chen BH, Hivert MF, Peters MJ, Pilling LC, Hogan JD, Pham LM, Harries LW, Fox CS, Bandinelli S, Dehghan A, Hernandez DG, Hofman A, Hong J, Joehanes R, Johnson AD, Munson PJ, Rybin DV, Singleton AB, Uitterlinden AG, Ying S. Peripheral Blood Transcriptomic Signatures of Fasting Glucose and Insulin Concentrations. Diabetes. 2016 Dec; 65(12):3794-3804. View in: PubMed

Dong J, Wyss A, Yang J, Price TR, Nicolas A, Nalls M, Tranah G, Franceschini N, Xu Z, Schulte C, Alonso A, Cummings SR, Fornage M, Zaykin D, Li L, Huang X, Kritchevsky S, Liu Y, Gasser T, Wilson RS, De Jager PL, Singleton AB, Pinto JM, Harris T, Mosley TH, Bennett DA, London S, Yu L, Chen H. Genome-Wide Association Analysis of the Sense of Smell in U. S. Older Adults: Identification of Novel Risk Loci in African-Americans and European-Americans. Mol Neurobiol. 2016 Nov 23. View in: PubMed

Lubbe SJ, Escott-Price V, Gibbs JR, Nalls MA, Bras J, Price TR, Nicolas A, Jansen IE, Mok KY, Pittman AM, Tomkins JE, Lewis PA, Noyce AJ, Lesage S, Sharma M, Schiff ER, Levine AP, Brice A, Gasser T, Hardy J, Heutink P, Wood NW, Singleton AB, Williams NM, Morris HR. Additional Rare Variant Analysis in Parkinson's Disease Cases with and Without Known Pathogenic Mutations: Evidence for Oligogenic Inheritance. Hum Mol Genet. 2016 Oct 18. View in: PubMed

Hopfner F, Haubenberger D, Galpern WR, Gwinn K, Van't Veer A, White S, Bhatia K, Adler CH, Eidelberg D, Ondo W, Stebbins GT, Tanner CM, Helmich RC, Lenz FA, Sillitoe RV, Vaillancourt D, Vitek JL, Louis ED, Shill HA, Frosch MP, Foroud T, Kuhlenbäumer G, Singleton A, Testa CM, Hallett M, Elble R, Deuschl G. Knowledge gaps and research recommendations for essential tremor. Parkinsonism Relat Disord. 2016 Oct 4. View in: PubMed

Adams HH, Hibar DP, Chouraki V, Stein JL, Nyquist PA, Rentería ME, Trompet S, Arias-Vasquez A, Seshadri S, Desrivières S, Beecham AH, Jahanshad N, Wittfeld K, Van der Lee SJ, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beiser A, Bernard M, Bis JC, Blanken LM, Blanton SH, Bohlken MM, Boks MP, Bralten J, Brickman AM, Carmichael O, Chakravarty MM, Chauhan G, Chen Q, Ching CR, Cuellar-Partida G, Braber AD, Doan NT, Ehrlich S, Filippi I, Ge T, Giddaluru S, Goldman AL, Gottesman RF, Greven CU, Grimm O, Griswold ME, Guadalupe T, Hass J, Haukvik UK, Hilal S, Hofer E, Hoehn D, Holmes AJ, Hoogman M, Janowitz D, Jia T, Kasperaviciute D, Kim S, Klein M, Kraemer B, Lee PH, Liao J, Liewald DC, Lopez LM, Luciano M, Macare C, Marquand A, Matarin M, Mather KA, Mattheisen M, Mazoyer B, McKay DR, McWhirter R, Milaneschi Y, Mirza-Schreiber N, Muetzel RL, Maniega SM, Nho K, Nugent AC, Loohuis LM, Oosterlaan J, Papmeyer M, Pappa I, Pirpamer L, Pudas S, Pütz B, Rajan KB, Ramasamy A, Richards JS, Risacher SL, Roiz-Santiañez R, Rommelse N, Rose EJ, Royle NA, Rundek T, Sämann PG, Satizabal CL, Schmaal L, Schork AJ, Shen L, Shin J, Shumskaya E, Smith AV, Sprooten E, Strike LT, Teumer A, Thomson R, Tordesillas-Gutierrez D, Toro R, Trabzuni D, Vaidya D, Van der Grond J, Van der Meer D, Van Donkelaar MM, Van Eijk KR, Van Erp TG, Van Rooij D, Walton E, Westlye LT, Whelan CD, Windham BG, Winkler AM, Woldehawariat G, Wolf C, Wolfers T, Xu B, Yanek LR, Yang J, Zijdenbos A, Zwiers MP, Agartz I, Aggarwal NT, Almasy L, Ames D, Amouyel P, Andreassen OA, Arepalli S, Assareh AA, Barral S, Bastin ME, Becker DM, Becker JT, Bennett DA, Blangero J, van Bokhoven H, Boomsma DI, Brodaty H, Brouwer RM, Brunner HG, Buckner RL, Buitelaar JK, Bulayeva KB, Cahn W, Calhoun VD, Cannon DM, Cavalleri GL, Chen C, Cheng CY, Cichon S, Cookson MR, Corvin A, Crespo-Facorro B, Curran JE, Czisch M, Dale AM, Davies GE, De Geus EJ, De Jager PL, de Zubicaray GI, Delanty N, Depondt C, DeStefano AL, Dillman A, Djurovic S, Donohoe G, Drevets WC, Duggirala R, Dyer TD, Erk S, Espeseth T, Evans DA, Fedko IO, Fernández G, Ferrucci L, Fisher SE, Fleischman DA, Ford I, Foroud TM, Fox PT, Francks C, Fukunaga M, Gibbs JR, Glahn DC, Gollub RL, Göring HH, Grabe HJ, Green RC, Gruber O, Gudnason V, Guelfi S, Hansell NK, Hardy J, Hartman CA, Hashimoto R, Hegenscheid K, Heinz A, Le Hellard S, Hernandez DG, Heslenfeld DJ, Ho BC, Hoekstra PJ, Hoffmann W, Hofman A, Holsboer F, Homuth G, Hosten N, Hottenga JJ, Pol HE, Ikeda M, Ikram MK, Jr CR, Jenkinson M, Johnson R, Jönsson EG, Jukema JW, Kahn RS, Kanai R, Kloszewska I, Knopman DS, Kochunov P, Kwok JB, Lawrie SM, Lemaître H, Liu X, Longo DL, Jr WT, Lopez OL, Lovestone S, Martinez O, Martinot JL, Mattay VS, McDonald C, McIntosh AM, McMahon KL, McMahon FJ, Mecocci P, Melle I, Meyer-Lindenberg A, Mohnke S, Montgomery GW, Morris DW, Mosley TH, Mühleisen TW, Müller-Myhsok B, Nalls MA, Nauck M, Nichols TE, Niessen WJ, Nöthen MM, Nyberg L, Ohi K, Olvera RL, Ophoff RA, Pandolfo M, Paus T, Pausova Z, Penninx BW, Pike GB, Potkin SG, Psaty BM, Reppermund S, Rietschel M, Roffman JL, Romanczuk-Seiferth N, Rotter JI, Ryten M, Sacco RL, Sachdev PS, Saykin AJ, Schmidt R, Schofield PR, Sigurdsson S, Simmons A, Singleton A, Sisodiya SM, Smith C, Smoller JW, Soininen H, Srikanth V, Steen VM, Stott DJ, Sussmann JE, Thalamuthu A, Tiemeier H, Toga AW, Traynor BJ, Troncoso J, Turner JA, Tzourio C, Uitterlinden AG, Hernández MC, Van der Brug M, Van der Lugt A, Van der Wee NJ, Van Duijn CM, Van Haren NE, Van T Ent D, Van Tol MJ, Vardarajan BN, Veltman DJ, Vernooij MW, Völzke H, Walter H, Wardlaw JM, Wassink TH, Weale ME, Weinberger DR, Weiner MW, Wen W, Westman E, White T, Wong TY, Wright CB, Zielke HR, Zonderman AB, Deary IJ, DeCarli C, Schmidt H, Martin NG, De Craen AJ, Wright MJ, Launer LJ, Schumann G, Fornage M, Franke B, Debette S, Medland SE, Ikram MA, Thompson PM. Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nat Neurosci. 2016 Oct 03. View in: PubMed

Joehanes R, Just AC, Marioni RE, Pilling LC, Reynolds LM, Mandaviya PR, Guan W, Xu T, Elks CE, Aslibekyan S, Moreno-Macias H, Smith JA, Brody JA, Dhingra R, Yousefi P, Pankow JS, Kunze S, Shah SH, McRae AF, Lohman K, Sha J, Absher DM, Ferrucci L, Zhao W, Demerath EW, Bressler J, Grove ML, Huan T, Liu C, Mendelson MM, Yao C, Kiel DP, Peters A, Wang-Sattler R, Visscher PM, Wray NR, Starr JM, Ding J, Rodriguez CJ, Wareham NJ, Irvin MR, Zhi D, Barrdahl M, Vineis P, Ambatipudi S, Uitterlinden AG, Hofman A, Schwartz J, Colicino E, Hou L, Vokonas PS, Hernandez DG, Singleton AB, Bandinelli S, Turner ST, Ware EB, Smith AK, Klengel T, Binder EB, Psaty BM, Taylor KD, Gharib SA, Swenson BR, Liang L, DeMeo DL, O'Connor GT, Herceg Z, Ressler KJ, Conneely KN, Sotoodehnia N, Kardia SL, Melzer D, Baccarelli AA, van Meurs JB, Romieu I, Arnett DK, Ong KK, Liu Y, Waldenberger M, Deary IJ, Fornage M, Levy D, London SJ. Epigenetic Signatures of Cigarette Smoking. Circ Cardiovasc Genet. 2016 Oct; 9(5):436-447. View in: PubMed

Geiger JT, Ding J, Crain B, Pletnikova O, Letson C, Dawson TM, Rosenthal LS, Pantelyat A, Gibbs JR, Albert MS, Hernandez DG, Hillis AE, Stone DJ, Singleton AB. Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies. Neurobiol Dis. 2016 Oct; 94:55-62. View in: PubMed

Bras J, Djaldetti R, Alves AM, Mead S, Darwent L, Lleo A, Molinuevo JL, Blesa R, Singleton A, Hardy J, Clarimon J, Guerreiro R. Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation. Neurobiol Aging. 2016 Oct; 46:236. e1-6. View in: PubMed

Sassi C, Nalls MA, Ridge PG, Gibbs JR, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Clement N, Lord J, Turton J, Bras J, Almeida MR. ABCA7 p. G215S as potential protective factor for Alzheimer's disease. Neurobiol Aging. 2016 Oct; 46:235. e1-9. View in: PubMed

Hernandez DG, Reed X, Singleton AB. Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance. J Neurochem. 2016 Oct; 139 Suppl 1:59-74. View in: PubMed

Chen BH, Marioni RE, Colicino E, Peters MJ, Ward-Caviness CK, Tsai PC, Roetker NS, Just AC, Demerath EW, Guan W, Bressler J, Fornage M, Studenski S, Vandiver AR, Moore AZ, Tanaka T, Kiel DP, Liang L, Vokonas P, Schwartz J, Lunetta KL, Murabito JM, Bandinelli S, Hernandez DG, Melzer D, Nalls M, Pilling LC, Price TR, Singleton AB, Gieger C, Holle R, Kretschmer A, Kronenberg F, Kunze S, Linseisen J, Meisinger C, Rathmann W, Waldenberger M, Visscher PM, Shah S, Wray NR, McRae AF, Franco OH, Hofman A, Uitterlinden AG, Absher D, Assimes T, Levine ME, Lu AT, Tsao PS, Hou L, Manson JE, Carty CL, LaCroix AZ, Reiner AP, Spector TD, Feinberg AP, Levy D, Baccarelli A, van Meurs J, Bell JT, Peters A, Deary IJ, Pankow JS, Ferrucci L, Horvath S. DNA methylation-based measures of biological age: meta-analysis predicting time to death. Aging (Albany NY). 2016 Sep 28; 8(9):1844-1865. View in: PubMed

Mehta SH, Dickson DW, Morgan JC, Singleton AB, Majounie E, Sethi KD. Juvenile onset Parkinsonism with "pure nigral" degeneration and POLG1 mutation. Parkinsonism Relat Disord. 2016 Sep; 30:83-5. View in: PubMed

Bandrés-Ciga S, Price TR, Barrero FJ, Escamilla-Sevilla F, Pelegrina J, Arepalli S, Hernández D, Gutiérrez B, Cervilla J, Rivera M, Rivera A, Ding JH, Vives F, Nalls M, Singleton A, Durán R. Genome-wide assessment of Parkinson's disease in a Southern Spanish population. Neurobiol Aging. 2016 Sep; 45:213. e3-9. View in: PubMed

Evans DS, Avery CL, Nalls MA, Li G, Barnard J, Smith EN, Tanaka T, Butler AM, Buxbaum SG, Alonso A, Arking DE, Berenson GS, Bis JC, Buyske S, Carty CL, Chen W, Chung MK, Cummings SR, Deo R, Eaton CB, Fox ER, Heckbert SR, Heiss G, Hindorff LA, Hsueh WC, Isaacs A, Jamshidi Y, Kerr KF, Liu F, Liu Y, Lohman KK, Magnani JW, Maher JF, Mehra R, Meng YA, Musani SK, Newton-Cheh C, North KE, Psaty BM, Redline S, Rotter JI, Schnabel RB, Schork NJ, Shohet RV, Singleton AB, Smith JD, Soliman EZ, Srinivasan SR, Taylor HA, Van Wagoner DR, Wilson JG, Young T, Zhang ZM, Zonderman AB, Evans MK, Ferrucci L, Murray SS, Tranah GJ, Whitsel EA, Reiner AP. Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans. Hum Mol Genet. 2016 Aug 29. View in: PubMed

Levine ME, Lu AT, Chen BH, Hernandez DG, Singleton AB, Ferrucci L, Bandinelli S, Salfati E, Manson JE, Quach A, Kusters CD, Kuh D, Wong A, Teschendorff AE, Widschwendter M, Ritz BR, Absher D, Assimes TL, Horvath S. Menopause accelerates biological aging. Proc Natl Acad Sci U S A. 2016 Aug 16; 113(33):9327-32. View in: PubMed

Moore AZ, Hernandez DG, Tanaka T, Pilling LC, Nalls MA, Bandinelli S, Singleton AB, Ferrucci L. Change in Epigenome-Wide DNA Methylation Over 9 Years and Subsequent Mortality: Results From the InCHIANTI Study. J Gerontol A Biol Sci Med Sci. 2016 Aug; 71(8):1029-35. View in: PubMed

Lubbe SJ, Escott-Price V, Brice A, Gasser T, Pittman AM, Bras J, Hardy J, Heutink P, Wood NM, Singleton AB, Grosset DG, Carroll CB, Law MH, Demenais F, Iles MM. Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease. Neurobiol Aging. 2016 Jul 28. View in: PubMed

Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain. 2016 Jul; 139(Pt 7):1904-18. View in: PubMed

Wang Y, Hersheson J, Lopez D, Hammer M, Liu Y, Lee KH, Pinto V, Seinfeld J, Wiethoff S, Sun J, Amouri R, Hentati F, Baudry N, Tran J, Singleton AB, Coutelier M, Brice A, Stevanin G, Durr A, Bi X, Houlden H, Baudry M. Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Cell Rep. 2016 Jun 28; 16(1):79-91. View in: PubMed

Singleton A, Hardy J. The Evolution of Genetics: Alzheimer's and Parkinson's Diseases. Neuron. 2016 Jun 15; 90(6):1154-63. View in: PubMed

Griffee MJ, Singleton A, Zimmerman JM, Morgan DE, Nirula R. The Effect of Perioperative Rescue Transesophageal Echocardiography on the Management of Trauma Patients. A A Case Rep. 2016 Jun 15; 6(12):387-90. View in: PubMed

Kang JH, Mollenhauer B, Coffey CS, Toledo JB, Weintraub D, Galasko DR, Irwin DJ, Van Deerlin V, Chen-Plotkin AS, Caspell-Garcia C, Waligórska T, Taylor P, Shah N, Pan S, Zero P, Frasier M, Marek K, Kieburtz K, Jennings D, Tanner CM, Simuni T, Singleton A, Toga AW, Chowdhury S, Trojanowski JQ, Shaw LM. CSF biomarkers associated with disease heterogeneity in early Parkinson's disease: the Parkinson's Progression Markers Initiative study. Acta Neuropathol. 2016 Jun; 131(6):935-49. View in: PubMed

Sassi C, Capozzo R, Gibbs R, Crews C, Zecca C, Arcuti S, Copetti M, Barulli MR, Brescia V, Singleton AB, Logroscino G. A Novel Splice-Acceptor Site Mutation in GRN (c. 709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy. J Alzheimers Dis. 2016 May 30; 53(2):475-85. View in: PubMed

Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J Hum Genet. 2016 Mar 3; 98(3):500-13. View in: PubMed

Barber IS, García-Cárdenas JM, Sakdapanichkul C, Deacon C, Zapata Erazo G, Guerreiro R, Bras J, Hernandez D, Singleton A, Guetta-Baranes T, Braae A, Clement N, Patel T, Brookes K, Medway C, Chappell S, Mann DM. Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease. Neurobiol Aging. 2016 Mar; 39:220. e1-7. View in: PubMed

Sassi C, Ridge PG, Nalls MA, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J. Influence of Coding Variability in APP-Aß Metabolism Genes in Sporadic Alzheimer's Disease. PLoS One. 2016; 11(6):e0150079. View in: PubMed

Nalls MA, Keller MF, Hernandez DG, Chen L, Stone DJ, Singleton AB. Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI). Mov Disord. 2016 Jan; 31(1):79-85. View in: PubMed

Pilling LC, Joehanes R, Kacprowski T, Peters M, Jansen R, Karasik D, Kiel DP, Harries LW, Teumer A, Powell J, Levy D, Lin H, Lunetta K, Munson P, Bandinelli S, Henley W, Hernandez D, Singleton A, Tanaka T, van Grootheest G, Hofman A, Uitterlinden AG, Biffar R, Gläser S, Homuth G, Malsch C, Völker U, Penninx B, van Meurs JB, Ferrucci L, Kocher T, Murabito J, Melzer D. Gene transcripts associated with muscle strength: a CHARGE meta-analysis of 7,781 persons. Physiol Genomics. 2016 Jan; 48(1):1-11. View in: PubMed

Guven G, Lohmann E, Bras J, Gibbs JR, Gurvit H, Bilgic B, Hanagasi H, Rizzu P, Heutink P, Emre M, Erginel-Unaltuna N, Just W, Hardy J, Singleton A, Guerreiro R. Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PLoS One. 2016; 11(9):e0162592. View in: PubMed

Blauwendraat C, Francescatto M, Gibbs JR, Jansen IE, Simón-Sánchez J, Hernandez DG, Dillman AA, Singleton AB, Cookson MR, Rizzu P, Heutink P. Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe. Genome Med. 2016; 8(1):65. View in: PubMed

Desikan RS, Schork AJ, Wang Y, Witoelar A, Sharma M, McEvoy LK, Holland D, Brewer JB, Chen CH, Thompson WK, Harold D, Williams J, Owen MJ, O'Donovan MC, Pericak-Vance MA, Mayeux R, Haines JL, Farrer LA, Schellenberg GD, Heutink P, Singleton AB, Brice A, Wood NW, Hardy J, Martinez M, Choi SH, DeStefano A, Ikram MA, Bis JC, Smith A, Fitzpatrick AL, Launer L, van Duijn C, Seshadri S, Ulstein ID, Aarsland D, Fladby T, Djurovic S, Hyman BT, Snaedal J, Stefansson H, Stefansson K, Gasser T, Andreassen OA, Dale AM. Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus. Mol Psychiatry. 2015 Dec; 20(12):1588-95. View in: PubMed

Mou Z, Hyde TM, Lipska BK, Martinowich K, Wei P, Ong CJ, Hunter LA, Palaguachi GI, Morgun E, Teng R, Lai C, Condarco TA, Demidowich AP, Krause AJ, Marshall LJ, Haack K, Voruganti VS, Cole SA, Butte NF, Comuzzie AG, Nalls MA, Zonderman AB, Singleton AB, Evans MK, Martin B, Maudsley S, Tsao JW, Kleinman JE, Yanovski JA, Han JC. Human Obesity Associated with an Intronic SNP in the Brain-Derived Neurotrophic Factor Locus. Cell Rep. 2015 Nov 10; 13(6):1073-80. View in: PubMed

Dong J, Yang J, Tranah G, Franceschini N, Parimi N, Alkorta-Aranburu G, Xu Z, Alonso A, Cummings SR, Fornage M, Huang X, Kritchevsky S, Liu Y, London S, Niu L, Wilson RS, De Jager PL, Yu L, Singleton AB, Harris T, Mosley TH, Pinto JM, Bennett DA, Chen H. Genome-wide Meta-analysis on the Sense of Smell Among US Older Adults. Medicine (Baltimore). 2015 Nov; 94(47):e1892. View in: PubMed

Pilling LC, Joehanes R, Melzer D, Harries LW, Henley W, Dupuis J, Lin H, Mitchell M, Hernandez D, Ying SX, Lunetta KL, Benjamin EJ, Singleton A, Levy D, Munson P, Murabito JM, Ferrucci L. Gene expression markers of age-related inflammation in two human cohorts. Exp Gerontol. 2015 Oct; 70:37-45. View in: PubMed

Nalls MA, McLean CY, Rick J, Eberly S, Hutten SJ, Gwinn K, Sutherland M, Martinez M, Heutink P, Williams NM, Hardy J, Gasser T, Brice A, Price TR, Nicolas A, Keller MF, Molony C, Gibbs JR, Chen-Plotkin A, Suh E, Letson C, Fiandaca MS, Mapstone M, Federoff HJ, Noyce AJ, Morris H, Van Deerlin VM, Weintraub D, Zabetian C, Hernandez DG, Lesage S, Mullins M, Conley ED, Northover CA, Frasier M, Marek K, Day-Williams AG, Stone DJ, Ioannidis JP, Singleton AB. Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study. Lancet Neurol. 2015 Oct; 14(10):1002-9. View in: PubMed

van der Brug MP, Singleton A, Gasser T, Lewis PA. Parkinson's disease: From human genetics to clinical trials. Sci Transl Med. 2015 Sep 16; 7(305):205ps20. View in: PubMed

Nichols N, Bras JM, Hernandez DG, Jansen IE, Lesage S, Lubbe S, Singleton AB. EIF4G1 mutations do not cause Parkinson's disease. Neurobiol Aging. 2015 Aug; 36(8):2444. e1-4. View in: PubMed

Jansen IE, Bras JM, Lesage S, Schulte C, Gibbs JR, Nalls MA, Brice A, Wood NW, Morris H, Hardy JA, Singleton AB, Gasser T, Heutink P, Sharma M. CHCHD2 and Parkinson's disease. Lancet Neurol. 2015 Jul; 14(7):678-9. View in: PubMed

Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, Chen WM, Cupples LA, DeStefano AL, Fornage M, Hardy J, Hsu L, Jackson RD, Jarvik GP, Kim DS, Lakshminarayan K, Lange LA, Manichaikul A, Quinlan AR, Singleton AB, Thornton TA, Nickerson DA, Peters U, Rich SS. Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. JAMA Neurol. 2015 Jul; 72(7):781-8. View in: PubMed

Lesage S, Bras J, Cormier-Dequaire F, Condroyer C, Nicolas A, Darwent L, Guerreiro R, Majounie E, Federoff M, Heutink P, Wood NW, Gasser T, Hardy J, Tison F, Singleton A, Brice A. Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurol Genet. 2015 Jun; 1(1):e9. View in: PubMed

Nalls MA, Escott-Price V, Williams NM, Lubbe S, Keller MF, Morris HR, Singleton AB. Genetic risk and age in Parkinson's disease: Continuum not stratum. Mov Disord. 2015 May; 30(6):850-4. View in: PubMed

Singleton A, Preston RJ, Cochran A. Sedation and analgesia for critically ill pediatric burn patients: the current state of practice. J Burn Care Res. 2015 May-Jun; 36(3):440-5. View in: PubMed

Barr TL, VanGilder R, Rellick S, Brooks SD, Doll DN, Lucke-Wold AN, Chen D, Denvir J, Warach S, Singleton A, Matarin M. A genomic profile of the immune response to stroke with implications for stroke recovery. Biol Res Nurs. 2015 May; 17(3):248-56. View in: PubMed

Westra HJ, Arends D, Esko T, Peters MJ, Schurmann C, Schramm K, Kettunen J, Yaghootkar H, Fairfax BP, Andiappan AK, Li Y, Fu J, Karjalainen J, Platteel M, Visschedijk M, Weersma RK, Kasela S, Milani L, Tserel L, Peterson P, Reinmaa E, Hofman A, Uitterlinden AG, Rivadeneira F, Homuth G, Petersmann A, Lorbeer R, Prokisch H, Meitinger T, Herder C, Roden M, Grallert H, Ripatti S, Perola M, Wood AR, Melzer D, Ferrucci L, Singleton AB, Hernandez DG, Knight JC, Melchiotti R, Lee B, Poidinger M, Zolezzi F, Larbi A, Wang de Y, van den Berg LH, Veldink JH, Rotzschke O, Makino S, Salomaa V, Strauch K, Völker U, van Meurs JB, Metspalu A, Wijmenga C, Jansen RC, Franke L. Cell Specific eQTL Analysis without Sorting Cells. PLoS Genet. 2015 May; 11(5):e1005223. View in: PubMed

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Escott-Price V. Polygenic risk of Parkinson disease is correlated with disease age at onset. Ann Neurol. 2015 Apr; 77(4):582-91. View in: PubMed

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Nalls MA, Bras J, Hernandez DG, Keller MF, Majounie E, Renton AE, Saad M, Jansen I, Guerreiro R, Lubbe S, Plagnol V, Gibbs JR, Schulte C, Pankratz N, Sutherland M, Bertram L, Lill CM, DeStefano AL, Faroud T, Eriksson N, Tung JY, Edsall C, Nichols N, Brooks J, Arepalli S, Pliner H, Letson C, Heutink P, Martinez M, Gasser T, Traynor BJ, Wood N, Hardy J, Singleton AB. NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging. 2015 Mar; 36(3):1605. e7-12. View in: PubMed

Huan T, Esko T, Peters MJ, Pilling LC, Schramm K, Schurmann C, Chen BH, Liu C, Joehanes R, Johnson AD, Yao C, Ying SX, Courchesne P, Milani L, Raghavachari N, Wang R, Liu P, Reinmaa E, Dehghan A, Hofman A, Uitterlinden AG, Hernandez DG, Bandinelli S, Singleton A, Melzer D, Metspalu A, Carstensen M, Grallert H, Herder C, Meitinger T, Peters A, Roden M, Waldenberger M, Dörr M, Felix SB, Zeller T. A meta-analysis of gene expression signatures of blood pressure and hypertension. PLoS Genet. 2015 Mar; 11(3):e1005035. View in: PubMed

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Johnson JO, Stevanin G, van de Leemput J, Hernandez DG, Arepalli S, Forlani S, Zonozi R, Gibbs JR, Brice A, Durr A, Singleton AB. A 7. 5-Mb duplication at chromosome 11q21-11q22. 3 is associated with a novel spastic ataxia syndrome. Mov Disord. 2015 Feb; 30(2):262-6. View in: PubMed

Scholz SW, Majounie E, Revesz T, Holton JL, Okun MS, Houlden H, Singleton AB. Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions. Neurobiol Aging. 2015 Feb; 36(2):1223. e1-2. View in: PubMed

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Chuang YF, Tanaka T, Beason-Held LL, An Y, Terracciano A, Sutin AR, Kraut M, Singleton AB, Resnick SM, Thambisetty M. FTO genotype and aging: pleiotropic longitudinal effects on adiposity, brain function, impulsivity and diet. Mol Psychiatry. 2015 Feb; 20(1):133-39. View in: PubMed

Li J, Lange LA, Duan Q, Lu Y, Singleton AB, Zonderman AB, Evans MK, Li Y, Taylor HA, Willis MS, Nalls M, Wilson JG, Lange EM. Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans. Hum Mol Genet. 2015 Jan 15; 24(2):572-81. View in: PubMed

Broer L, Buchman AS, Deelen J, Evans DS, Faul JD, Lunetta KL, Sebastiani P, Smith JA, Smith AV, Tanaka T, Yu L, Arnold AM, Aspelund T, Benjamin EJ, De Jager PL, Eirkisdottir G, Evans DA, Garcia ME, Hofman A, Kaplan RC, Kardia SL, Kiel DP, Oostra BA, Orwoll ES, Parimi N, Psaty BM, Rivadeneira F, Rotter JI, Seshadri S, Singleton A, Tiemeier H, Uitterlinden AG, Zhao W, Bandinelli S, Bennett DA, Ferrucci L, Gudnason V, Harris TB, Karasik D, Launer LJ, Perls TT, Slagboom PE, Tranah GJ, Weir DR, Newman AB, van Duijn CM, Murabito JM. GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy. J Gerontol A Biol Sci Med Sci. 2015 Jan; 70(1):110-8. View in: PubMed

Ghani M, Lang AE, Zinman L, Nacmias B, Sorbi S, Bessi V, Tedde A, Tartaglia MC, Surace EI, Sato C, Moreno D, Xi Z, Hung R, Nalls MA, Singleton A, St George-Hyslop P, Rogaeva E. Mutation analysis of patients with neurodegenerative disorders using NeuroX array. Neurobiol Aging. 2015 Jan; 36(1):545. e9-14. View in: PubMed

Keller MF, Reiner AP, Okada Y, van Rooij FJ, Johnson AD, Chen MH, Smith AV, Morris AP, Tanaka T, Ferrucci L, Zonderman AB, Lettre G, Harris T, Garcia M, Bandinelli S, Qayyum R, Yanek LR, Becker DM, Becker LC, Kooperberg C, Keating B, Reis J, Tang H, Boerwinkle E, Kamatani Y, Matsuda K, Kamatani N, Nakamura Y, Kubo M, Liu S, Dehghan A, Felix JF, Hofman A, Uitterlinden AG, van Duijn CM, Franco OH, Longo DL, Singleton AB, Psaty BM, Evans MK, Cupples LA, Rotter JI, O'Donnell CJ, Takahashi A, Wilson JG, Ganesh SK, Nalls MA. Trans-ethnic meta-analysis of white blood cell phenotypes. Hum Mol Genet. 2014 Dec 20; 23(25):6944-60. View in: PubMed

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Xi Z, Yunusova Y, van Blitterswijk M, Dib S, Ghani M, Moreno D, Sato C, Liang Y, Singleton A, Robertson J, Rademakers R, Zinman L, Rogaeva E. Identical twins with the C9orf72 repeat expansion are discordant for ALS. Neurology. 2014 Oct 14; 83(16):1476-8. View in: PubMed

Wood AR, Tuke MA, Nalls MA, Hernandez DG, Bandinelli S, Singleton AB, Melzer D, Ferrucci L, Frayling TM, Weedon MN. Another explanation for apparent epistasis. Nature. 2014 Oct 2; 514(7520):E3-5. View in: PubMed

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Dong J, Gao J, Nalls M, Gao X, Huang X, Han J, Singleton AB, Chen H. Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. Neurobiol Aging. 2014 Jun; 35(6):1512. e5-10. View in: PubMed

Tucci A, Liu YT, Preza E, Pitceathly RD, Chalasani A, Plagnol V, Land JM, Trabzuni D, Ryten M. Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. J Neurol Neurosurg Psychiatry. 2014 May; 85(5):486-92. View in: PubMed

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Schulze TG, Akula N, Breuer R, Steele J, Nalls MA, Singleton AB, Degenhardt FA, Nöthen MM, Cichon S, Rietschel M. Molecular genetic overlap in bipolar disorder, schizophrenia, and major depressive disorder. World J Biol Psychiatry. 2014 Apr; 15(3):200-8. View in: PubMed

Sangaré M, Hendrickson B, Sango HA, Chen K, Nofziger J, Amara A, Dutra A, Schindler AB, Guindo A, Traoré M, Harmison G, Pak E, Yaro FN, Bricceno K, Grunseich C, Chen G, Boehm M, Zukosky K, Bocoum N, Meilleur KG, Daou F, Bagayogo K, Coulibaly YI, Diakité M, Fay MP, Lee HS, Saad A, Gribaa M, Singleton AB, Maiga Y, Auh S, Landouré G, Fairhurst RM, Burnett BG, Scholl T, Fischbeck KH. Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa. Ann Neurol. 2014 Apr; 75(4):525-32. View in: PubMed

Agler C, Nielsen DM, Urkasemsin G, Singleton A, Tonomura N, Sigurdsson S, Tang R, Linder K, Arepalli S, Hernandez D, Lindblad-Toh K, van de Leemput J, Motsinger-Reif A, O'Brien DP, Bell J, Harris T, Steinberg S, Olby NJ. Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. PLoS Genet. 2014 Feb; 10(2):e1003991. View in: PubMed

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Holly AC, Pilling LC, Hernandez D, Lee BP, Singleton A, Ferrucci L, Melzer D, Harries LW. Splicing factor 3B1 hypomethylation is associated with altered SF3B1 transcript expression in older humans. Mech Ageing Dev. 2014 Jan; 135:50-6. View in: PubMed

Thompson AJ, Scholz SW, Singleton AB, Hardwick A, McFarland NR, Okun MS. Variability in clinical phenotypes of heterozygous and homozygous cases of Parkin-related Parkinson's disease. Int J Neurosci. 2013 Dec; 123(12):847-9. View in: PubMed

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Paisán-Ruiz C, Lewis PA, Singleton AB. LRRK2: cause, risk, and mechanism. J Parkinsons Dis. 2013; 3(2):85-103. View in: PubMed

Trabzuni D, Ryten M, Emmett W, Ramasamy A, Lackner KJ, Zeller T, Walker R, Smith C, Lewis PA, Mamais A, de Silva R, Vandrovcova J. Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus. PLoS One. 2013; 8(8):e70724. View in: PubMed

Singleton AB, Farrer MJ, Bonifati V. The genetics of Parkinson's disease: progress and therapeutic implications. Mov Disord. 2013 Jan; 28(1):14-23. View in: PubMed

Guerreiro RJ, Lohmann E, Brás JM, Gibbs JR, Rohrer JD, Gurunlian N, Dursun B, Bilgic B, Hanagasi H, Gurvit H, Emre M, Singleton A, Hardy J. Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol. 2013 Jan; 70(1):78-84. View in: PubMed

Ross OA, Soto-Ortolaza AI, Heckman MG, Verbeeck C, Serie DJ, Rayaprolu S, Rich SS, Nalls MA, Singleton A, Guerreiro R, Kinsella E, Wszolek ZK, Brott TG, Brown RD, Worrall BB, Meschia JF. NOTCH3 variants and risk of ischemic stroke. PLoS One. 2013; 8(9):e75035. View in: PubMed

Wood AR, Perry JR, Tanaka T, Hernandez DG, Zheng HF, Melzer D, Gibbs JR, Nalls MA, Weedon MN, Spector TD, Richards JB, Bandinelli S, Ferrucci L, Singleton AB, Frayling TM. Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation. PLoS One. 2013; 8(5):e64343. View in: PubMed

Mittag F, Büchel F, Saad M, Jahn A, Schulte C, Bochdanovits Z, Simón-Sánchez J, Nalls MA, Keller M, Hernandez DG, Gibbs JR, Lesage S, Brice A, Heutink P, Martinez M, Wood NW, Hardy J, Singleton AB, Zell A, Gasser T, Sharma M. Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities. Hum Mutat. 2012 Dec; 33(12):1708-18. View in: PubMed

Smith JG, Avery CL, Evans DS, Nalls MA, Meng YA, Smith EN, Palmer C, Tanaka T, Mehra R, Butler AM, Young T, Buxbaum SG, Kerr KF, Berenson GS, Schnabel RB, Li G, Ellinor PT, Magnani JW, Chen W, Bis JC, Curb JD, Hsueh WC, Rotter JI, Liu Y, Newman AB, Limacher MC, North KE, Reiner AP, Quibrera PM, Schork NJ, Singleton AB, Psaty BM, Soliman EZ, Solomon AJ, Srinivasan SR, Alonso A, Wallace R, Redline S, Zhang ZM, Post WS, Zonderman AB, Taylor HA, Murray SS, Ferrucci L, Arking DE, Evans MK, Fox ER, Sotoodehnia N, Heckbert SR, Whitsel EA, Newton-Cheh C. Impact of ancestry and common genetic variants on QT interval in African Americans. Circ Cardiovasc Genet. 2012 Dec; 5(6):647-55. View in: PubMed

Butler AM, Yin X, Evans DS, Nalls MA, Smith EN, Tanaka T, Li G, Buxbaum SG, Whitsel EA, Alonso A, Arking DE, Benjamin EJ, Berenson GS, Bis JC, Chen W, Deo R, Ellinor PT, Heckbert SR, Heiss G, Hsueh WC, Keating BJ, Kerr KF, Li Y, Limacher MC, Liu Y, Lubitz SA, Marciante KD, Mehra R, Meng YA, Newman AB, Newton-Cheh C, North KE, Palmer CD, Psaty BM, Quibrera PM, Redline S, Reiner AP, Rotter JI, Schnabel RB, Schork NJ, Singleton AB, Smith JG, Soliman EZ, Srinivasan SR, Zhang ZM, Zonderman AB, Ferrucci L, Murray SS, Evans MK, Sotoodehnia N, Magnani JW, Avery CL. Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts. Circ Cardiovasc Genet. 2012 Dec; 5(6):639-46. View in: PubMed

Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Büchel F, Sharma M, Gibbs JR, Schulte C, Moskvina V, Durr A, Holmans P, Kilarski LL, Guerreiro R, Hernandez DG, Brice A, Ylikotila P, Stefánsson H, Majamaa K, Morris HR, Williams N, Gasser T, Heutink P, Wood NW, Hardy J, Martinez M, Singleton AB, Nalls MA. Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet. 2012 Nov 15; 21(22):4996-5009. View in: PubMed

Schlebusch CM, Skoglund P, Sjödin P, Gattepaille LM, Hernandez D, Jay F, Li S, De Jongh M, Singleton A, Blum MG, Soodyall H, Jakobsson M. Genomic variation in seven Khoe-San groups reveals adaptation and complex African history. Science. 2012 Oct 19; 338(6105):374-9. View in: PubMed

Camargos S, Lees AJ, Singleton A, Cardoso F. DYT16: the original cases. J Neurol Neurosurg Psychiatry. 2012 Oct; 83(10):1012-4. View in: PubMed

Gao J, Nalls MA, Shi M, Joubert BR, Hernandez DG, Huang X, Hollenbeck A, Singleton AB, Chen H. An exploratory analysis on gene-environment interactions for Parkinson disease. Neurobiol Aging. 2012 Oct; 33(10):2528. e1-6. View in: PubMed

Majounie E, Abramzon Y, Renton AE, Keller MF, Traynor BJ, Singleton AB. Large C9orf72 repeat expansions are not a common cause of Parkinson's disease. Neurobiol Aging. 2012 Oct; 33(10):2527. e1-2. View in: PubMed

Trabzuni D, Wray S, Vandrovcova J, Ramasamy A, Walker R, Smith C, Luk C, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Singleton AB, Cookson MR, Pittman AM, de Silva R, Weale ME, Hardy J, Ryten M. MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Hum Mol Genet. 2012 Sep 15; 21(18):4094-103. View in: PubMed

Houlden H, Singleton AB. The genetics and neuropathology of Parkinson's disease. Acta Neuropathol. 2012 Sep; 124(3):325-38. View in: PubMed

Johnson JO, Gibbs JR, Megarbane A, Urtizberea JA, Hernandez DG, Foley AR, Arepalli S, Pandraud A, Simón-Sánchez J, Clayton P, Reilly MM, Muntoni F, Abramzon Y, Houlden H, Singleton AB. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain. 2012 Sep; 135(Pt 9):2875-82. View in: PubMed

Lohmann E, Guerreiro RJ, Erginel-Unaltuna N, Gurunlian N, Bilgic B, Gurvit H, Hanagasi HA, Luu N, Emre M, Singleton A. Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. Neurobiol Aging. 2012 Aug; 33(8):1850. e17-27. View in: PubMed

Harries LW, Fellows AD, Pilling LC, Hernandez D, Singleton A, Bandinelli S, Guralnik J, Powell J, Ferrucci L, Melzer D. Advancing age is associated with gene expression changes resembling mTOR inhibition: evidence from two human populations. Mech Ageing Dev. 2012 Aug; 133(8):556-62. View in: PubMed

Harries LW, Bradley-Smith RM, Llewellyn DJ, Pilling LC, Fellows A, Henley W, Hernandez D, Guralnik JM, Bandinelli S, Singleton A, Ferrucci L, Melzer D. Leukocyte CCR2 expression is associated with mini-mental state examination score in older adults. Rejuvenation Res. 2012 Aug; 15(4):395-404. View in: PubMed

Sailer A, Scholz SW, Gibbs JR, Tucci A, Johnson JO, Wood NW, Plagnol V, Hummerich H, Ding J, Hernandez D, Hardy J, Federoff HJ, Traynor BJ, Singleton AB, Houlden H. Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology. 2012 Jul 10; 79(2):127-31. View in: PubMed

Hernandez DG, Nalls MA, Moore M, Chong S, Dillman A, Trabzuni D, Gibbs JR, Ryten M, Arepalli S, Weale ME, Zonderman AB, Troncoso J, O'Brien R, Walker R, Smith C, Bandinelli S, Traynor BJ, Hardy J, Singleton AB, Cookson MR. Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiol Dis. 2012 Jul; 47(1):20-8. View in: PubMed

Guerreiro RJ, Lohmann E, Kinsella E, Brás JM, Luu N, Gurunlian N, Dursun B, Bilgic B, Santana I, Hanagasi H, Gurvit H, Gibbs JR, Oliveira C, Emre M, Singleton A. Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease. Neurobiol Aging. 2012 May; 33(5):1008. e17-23. View in: PubMed

Federoff M, Jimenez-Rolando B, Nalls MA, Singleton AB. A large study reveals no association between APOE and Parkinson's disease. Neurobiol Dis. 2012 May; 46(2):389-92. View in: PubMed

Harries LW, Pilling LC, Hernandez LD, Bradley-Smith R, Henley W, Singleton AB, Guralnik JM, Bandinelli S, Ferrucci L, Melzer D. CCAAT-enhancer-binding protein-beta expression in vivo is associated with muscle strength. Aging Cell. 2012 Apr; 11(2):262-8. View in: PubMed

The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet. 2012 Mar 31; 379(9822):1214-24. View in: PubMed

Stolk L, Perry JR, Chasman DI, He C, Mangino M, Sulem P, Barbalic M, Broer L, Byrne EM, Ernst F, Esko T, Franceschini N, Gudbjartsson DF, Hottenga JJ, Kraft P, McArdle PF, Porcu E, Shin SY, Smith AV, van Wingerden S, Zhai G, Zhuang WV, Albrecht E, Alizadeh BZ, Aspelund T, Bandinelli S, Lauc LB, Beckmann JS, Boban M, Boerwinkle E, Broekmans FJ, Burri A, Campbell H, Chanock SJ, Chen C, Cornelis MC, Corre T, Coviello AD, d'Adamo P, Davies G, de Faire U, de Geus EJ, Deary IJ, Dedoussis GV, Deloukas P, Ebrahim S, Eiriksdottir G, Emilsson V, Eriksson JG, Fauser BC, Ferreli L, Ferrucci L, Fischer K, Folsom AR, Garcia ME, Gasparini P, Gieger C, Glazer N, Grobbee DE, Hall P, Haller T, Hankinson SE, Hass M, Hayward C, Heath AC, Hofman A, Ingelsson E, Janssens AC, Johnson AD, Karasik D, Kardia SL, Keyzer J, Kiel DP, Kolcic I, Kutalik Z, Lahti J, Lai S, Laisk T, Laven JS, Lawlor DA, Liu J, Lopez LM, Louwers YV, Magnusson PK, Marongiu M, Martin NG, Klaric IM, Masciullo C, McKnight B, Medland SE, Melzer D, Mooser V, Navarro P, Newman AB, Nyholt DR, Onland-Moret NC, Palotie A, Paré G, Parker AN, Pedersen NL, Peeters PH, Pistis G, Plump AS, Polasek O, Pop VJ, Psaty BM, Räikkönen K, Rehnberg E, Rotter JI, Rudan I, Sala C, Salumets A, Scuteri A, Singleton A, Smith JA, Snieder H, Soranzo N, Stacey SN, Starr JM, Stathopoulou MG, Stirrups K, Stolk RP, Styrkarsdottir U, Sun YV, Tenesa A, Thorand B, Toniolo D, Tryggvadottir L, Tsui K, Ulivi S, van Dam RM, van der Schouw YT, van Gils CH, van Nierop P, Vink JM, Visscher PM, Voorhuis M, Waeber G, Wallaschofski H, Wichmann HE, Widen E, Wijnands-van Gent CJ, Willemsen G, Wilson JF, Wolffenbuttel BH, Wright AF, Yerges-Armstrong LM, Zemunik T, Zgaga L, Zillikens MC, Zygmunt M. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet. 2012 Mar; 44(3):260-8. View in: PubMed

David SP, Hamidovic A, Chen GK, Bergen AW, Wessel J, Kasberger JL, Brown WM, Petruzella S, Thacker EL, Kim Y, Nalls MA, Tranah GJ, Sung YJ, Ambrosone CB, Arnett D, Bandera EV, Becker DM, Becker L, Berndt SI, Bernstein L, Blot WJ, Broeckel U, Buxbaum SG, Caporaso N, Casey G, Chanock SJ, Deming SL, Diver WR, Eaton CB, Evans DS, Evans MK, Fornage M, Franceschini N, Harris TB, Henderson BE, Hernandez DG, Hitsman B, Hu JJ, Hunt SC, Ingles SA, John EM, Kittles R, Kolb S, Kolonel LN, Le Marchand L, Liu Y, Lohman KK, McKnight B, Millikan RC, Murphy A, Neslund-Dudas C, Nyante S, Press M, Psaty BM, Rao DC, Redline S, Rodriguez-Gil JL, Rybicki BA, Signorello LB, Singleton AB, Smoller J, Snively B, Spring B, Stanford JL, Strom SS, Swan GE, Taylor KD, Thun MJ, Wilson AF, Witte JS, Yamamura Y, Yanek LR, Yu K, Zheng W, Ziegler RG, Zonderman AB, Jorgenson E, Haiman CA, Furberg H. Genome-wide meta-analyses of smoking behaviors in African Americans. Transl Psychiatry. 2012 Feb 21; 2:e119. View in: PubMed

Majounie E, Abramzon Y, Renton AE, Perry R, Bassett SS, Pletnikova O, Troncoso JC, Hardy J, Singleton AB, Traynor BJ. Repeat expansion in C9ORF72 in Alzheimer's disease. N Engl J Med. 2012 Jan 19; 366(3):283-4. View in: PubMed

Gerrish A, Russo G, Richards A, Moskvina V, Ivanov D, Harold D, Sims R, Abraham R, Hollingworth P, Chapman J, Hamshere M, Pahwa JS, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Kölsch H, Heun R, Schürmann B, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Davies G, Harris SE, Starr JM, Deary IJ, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Jones L, Holmans PA, O'Donovan MC, Owen MJ, Williams J. The role of variation at AßPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. J Alzheimers Dis. 2012; 28(2):377-87. View in: PubMed

Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A, DeStefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA, Heutink P, Hill-Burns EM, Klein C, Latourelle JC, Maraganore DM, Martin ER, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Singleton AB, Stefansson K, Toda T, Tung JY, Vance J, Wood NW, Zabetian CP. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet. 2012; 8(3):e1002548. View in: PubMed

Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikäinen LP, Fuchsberger C, Tanaka T, Morris AP, Small K, Isaacs A, Beekman M, Coassin S, Lohman K, Qi L, Kanoni S, Pankow JS, Uh HW, Wu Y, Bidulescu A, Rasmussen-Torvik LJ, Greenwood CM, Ladouceur M, Grimsby J, Manning AK, Liu CT, Kooner J, Mooser VE, Vollenweider P, Kapur KA, Chambers J, Wareham NJ, Langenberg C, Frants R, Willems-Vandijk K, Oostra BA, Willems SM, Lamina C, Winkler TW, Psaty BM, Tracy RP, Brody J, Chen I, Viikari J, Kähönen M, Pramstaller PP, Evans DM, St Pourcain B, Sattar N, Wood AR, Bandinelli S, Carlson OD, Egan JM, Böhringer S, van Heemst D, Kedenko L, Kristiansson K, Nuotio ML, Loo BM, Harris T, Garcia M, Kanaya A, Haun M, Klopp N, Wichmann HE, Deloukas P, Katsareli E, Couper DJ, Duncan BB, Kloppenburg M, Adair LS, Borja JB. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet. 2012; 8(3):e1002607. View in: PubMed

Hernandez DG, Nalls MA, Ylikotila P, Keller M, Hardy JA, Majamaa K, Singleton AB. Genome wide assessment of young onset Parkinson's disease from Finland. PLoS One. 2012; 7(7):e41859. View in: PubMed

Kuhn A, Kumar A, Beilina A, Dillman A, Cookson MR, Singleton AB. Cell population-specific expression analysis of human cerebellum. BMC Genomics. 2012; 13:610. View in: PubMed

Qayyum R, Snively BM, Ziv E, Nalls MA, Liu Y, Tang W, Yanek LR, Lange L, Evans MK, Ganesh S, Austin MA, Lettre G, Becker DM, Zonderman AB, Singleton AB, Harris TB, Mohler ER, Logsdon BA, Kooperberg C, Folsom AR, Wilson JG, Becker LC, Reiner AP. A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. PLoS Genet. 2012; 8(3):e1002491. View in: PubMed

Simón-Sánchez J, Kilarski LL, Nalls MA, Martinez M, Schulte C, Holmans P. Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease. PLoS One. 2012; 7(3):e28787. View in: PubMed

Palmer ND, McDonough CW, Hicks PJ, Roh BH, Wing MR, An SS, Hester JM, Cooke JN, Bostrom MA, Rudock ME, Talbert ME, Lewis JP. A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One. 2012; 7(1):e29202. View in: PubMed

Hernandez DG, Singleton AB. Using DNA methylation to understand biological consequences of genetic variability. Neurodegener Dis. 2012; 9(2):53-9. View in: PubMed

Majounie E, Traynor BJ, Chiò A, Restagno G, Mandrioli J, Benatar M, Taylor JP, Singleton AB. Mutational analysis of the VCP gene in Parkinson's disease. Neurobiol Aging. 2012 Jan; 33(1):209. e1-2. View in: PubMed

Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011 Oct 20; 72(2):257-68. View in: PubMed

Singleton A, Hardy J. A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci. Hum Mol Genet. 2011 Oct 15; 20(R2):R158-62. View in: PubMed

Wood AR, Hernandez DG, Nalls MA, Yaghootkar H, Gibbs JR, Harries LW, Chong S, Moore M, Weedon MN, Guralnik JM, Bandinelli S, Murray A, Ferrucci L, Singleton AB, Melzer D, Frayling TM. Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association. Hum Mol Genet. 2011 Oct 15; 20(20):4082-92. View in: PubMed

Harries LW, Hernandez D, Henley W, Wood AR, Holly AC, Bradley-Smith RM, Yaghootkar H, Dutta A, Murray A, Frayling TM, Guralnik JM, Bandinelli S, Singleton A, Ferrucci L, Melzer D. Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing. Aging Cell. 2011 Oct; 10(5):868-78. View in: PubMed

Wain LV, Verwoert GC, O'Reilly PF, Shi G, Johnson T, Johnson AD, Bochud M, Rice KM, Henneman P, Smith AV, Ehret GB, Amin N, Larson MG, Mooser V, Hadley D, Dörr M, Bis JC, Aspelund T, Esko T, Janssens AC, Zhao JH, Heath S, Laan M, Fu J, Pistis G, Luan J, Arora P, Lucas G, Pirastu N, Pichler I, Jackson AU, Webster RJ, Zhang F, Peden JF, Schmidt H, Tanaka T, Campbell H, Igl W, Milaneschi Y, Hottenga JJ, Vitart V, Chasman DI, Trompet S, Bragg-Gresham JL, Alizadeh BZ, Chambers JC, Guo X, Lehtimäki T, Kühnel B, Lopez LM, Polašek O, Boban M, Nelson CP, Morrison AC, Pihur V, Ganesh SK, Hofman A, Kundu S, Mattace-Raso FU, Rivadeneira F, Sijbrands EJ, Uitterlinden AG, Hwang SJ, Vasan RS, Wang TJ, Bergmann S, Vollenweider P, Waeber G, Laitinen J, Pouta A, Zitting P, McArdle WL, Kroemer HK, Völker U, Völzke H, Glazer NL, Taylor KD, Harris TB, Alavere H, Haller T, Keis A, Tammesoo ML, Aulchenko Y, Barroso I, Khaw KT, Galan P, Hercberg S, Lathrop M, Eyheramendy S, Org E, Sõber S, Lu X, Nolte IM, Penninx BW, Corre T, Masciullo C, Sala C, Groop L, Voight BF, Melander O, O'Donnell CJ, Salomaa V, d'Adamo AP, Fabretto A, Faletra F, Ulivi S, Del Greco F, Facheris M, Collins FS, Bergman RN, Beilby JP, Hung J, Musk AW, Mangino M, Shin SY, Soranzo N, Watkins H, Goel A, Hamsten A, Gider P, Loitfelder M, Zeginigg M, Hernandez D, Najjar SS, Navarro P, Wild SH, Corsi AM, Singleton A, de Geus EJ, Willemsen G, Parker AN, Rose LM, Buckley B, Stott D, Orru M, Uda M. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet. 2011 Oct; 43(10):1005-11. View in: PubMed

Meschia JF, Nalls M, Matarin M, Brott TG, Brown RD, Hardy J, Kissela B, Rich SS, Singleton A, Hernandez D, Ferrucci L, Pearce K, Keller M, Worrall BB. Siblings with ischemic stroke study: results of a genome-wide scan for stroke loci. Stroke. 2011 Oct; 42(10):2726-32. View in: PubMed

N'Diaye A, Chen GK, Palmer CD, Ge B, Tayo B, Mathias RA, Ding J, Nalls MA, Adeyemo A, Adoue V, Ambrosone CB, Atwood L, Bandera EV, Becker LC, Berndt SI, Bernstein L, Blot WJ, Boerwinkle E, Britton A, Casey G, Chanock SJ, Demerath E, Deming SL, Diver WR, Fox C, Harris TB, Hernandez DG, Hu JJ, Ingles SA, John EM, Johnson C, Keating B, Kittles RA, Kolonel LN, Kritchevsky SB, Le Marchand L, Lohman K, Liu J, Millikan RC, Murphy A, Musani S, Neslund-Dudas C, North KE, Nyante S, Ogunniyi A, Ostrander EA, Papanicolaou G, Patel S, Pettaway CA, Press MF, Redline S, Rodriguez-Gil JL, Rotimi C, Rybicki BA, Salako B, Schreiner PJ, Signorello LB, Singleton AB, Stanford JL, Stram AH, Stram DO, Strom SS, Suktitipat B, Thun MJ, Witte JS, Yanek LR, Ziegler RG, Zheng W, Zhu X, Zmuda JM, Zonderman AB, Evans MK, Liu Y, Becker DM, Cooper RS, Pastinen T, Henderson BE, Hirschhorn JN, Lettre G, Haiman CA. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. PLoS Genet. 2011 Oct; 7(10):e1002298. View in: PubMed

Devine MJ, Gwinn K, Singleton A, Hardy J. Parkinson's disease and a-synuclein expression. Mov Disord. 2011 Oct; 26(12):2160-8. View in: PubMed

Stemberger S, Scholz SW, Singleton AB, Wenning GK. Genetic players in multiple system atrophy: unfolding the nature of the beast. Neurobiol Aging. 2011 Oct; 32(10):1924. e5-14. View in: PubMed

Singleton AB. Exome sequencing: a transformative technology. Lancet Neurol. 2011 Oct; 10(10):942-6. View in: PubMed

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature. 2011 Sep 11; 478(7367):103-9. View in: PubMed

Gwinn K, Devine MJ, Jin LW, Johnson J, Bird T, Muenter M, Waters C, Adler CH, Caselli R, Houlden H, Lopez G, Singleton A, Hardy J, Singleton A. Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by a-synuclein triplication (Iowa kindred). Mov Disord. 2011 Sep; 26(11):2134-6. View in: PubMed

Camargos ST, Gurgel-Giannetti J, Lees A, Hardy J, Singleton A, Cardoso F. Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI. J Neurol Neurosurg Psychiatry. 2011 Sep; 82(9):1059-60. View in: PubMed

Holmes MV, Newcombe P, Hubacek JA, Sofat R, Ricketts SL, Cooper J, Breteler MM, Bautista LE, Sharma P, Whittaker JC, Smeeth L, Fowkes FG, Algra A, Shmeleva V, Szolnoki Z, Roest M, Linnebank M, Zacho J, Nalls MA, Singleton AB, Ferrucci L, Hardy J, Worrall BB, Rich SS, Matarin M, Norman PE, Flicker L, Almeida OP, van Bockxmeer FM, Shimokata H, Khaw KT, Wareham NJ, Bobak M, Sterne JA, Smith GD, Talmud PJ, van Duijn C, Humphries SE, Price JF, Ebrahim S, Lawlor DA, Hankey GJ, Meschia JF, Sandhu MS, Hingorani AD, Casas JP. Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials. Lancet. 2011 Aug 13; 378(9791):584-94. View in: PubMed

Bras JM, Singleton AB. Exome sequencing in Parkinson's disease. Clin Genet. 2011 Aug; 80(2):104-9. View in: PubMed

Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet. 2011 Jul; 43(7):699-705. View in: PubMed

Nalls MA, Couper DJ, Tanaka T, van Rooij FJ, Chen MH, Smith AV, Toniolo D, Zakai NA, Yang Q, Greinacher A, Wood AR, Garcia M, Gasparini P, Liu Y, Lumley T, Folsom AR, Reiner AP, Gieger C, Lagou V, Felix JF, Völzke H, Gouskova NA, Biffi A, Döring A, Völker U, Chong S, Wiggins KL, Rendon A, Dehghan A, Moore M, Taylor K, Wilson JG, Lettre G, Hofman A, Bis JC, Pirastu N, Fox CS, Meisinger C, Sambrook J, Arepalli S, Nauck M, Prokisch H, Stephens J, Glazer NL, Cupples LA, Okada Y, Takahashi A, Kamatani Y, Matsuda K, Tsunoda T, Tanaka T, Kubo M, Nakamura Y, Yamamoto K, Kamatani N, Stumvoll M, Tönjes A, Prokopenko I, Illig T, Patel KV, Garner SF, Kuhnel B, Mangino M, Oostra BA, Thein SL, Coresh J, Wichmann HE, Menzel S, Lin J, Pistis G, Uitterlinden AG, Spector TD, Teumer A, Eiriksdottir G, Gudnason V, Bandinelli S, Frayling TM, Chakravarti A, van Duijn CM, Melzer D, Ouwehand WH, Levy D, Boerwinkle E, Singleton AB, Hernandez DG, Longo DL, Soranzo N, Witteman JC, Psaty BM, Ferrucci L, Harris TB, O'Donnell CJ, Ganesh SK. Multiple loci are associated with white blood cell phenotypes. PLoS Genet. 2011 Jun; 7(6):e1002113. View in: PubMed

Simón-Sánchez J, van Hilten JJ, van de Warrenburg B, Post B, Berendse HW, Arepalli S, Hernandez DG, de Bie RM, Velseboer D, Scheffer H, Bloem B, van Dijk KD, Rivadeneira F, Hofman A, Uitterlinden AG, Rizzu P, Bochdanovits Z, Singleton AB, Heutink P. Genome-wide association study confirms extant PD risk loci among the Dutch. Eur J Hum Genet. 2011 Jun; 19(6):655-61. View in: PubMed

Reiner AP, Lettre G, Nalls MA, Ganesh SK, Mathias R, Austin MA, Dean E, Arepalli S, Britton A, Chen Z, Couper D, Curb JD, Eaton CB, Fornage M, Grant SF, Harris TB, Hernandez D, Kamatini N, Keating BJ, Kubo M, LaCroix A, Lange LA, Liu S, Lohman K, Meng Y, Mohler ER, Musani S, Nakamura Y, O'Donnell CJ, Okada Y, Palmer CD, Papanicolaou GJ, Patel KV, Singleton AB, Takahashi A, Tang H, Taylor HA, Taylor K, Thomson C, Yanek LR, Yang L, Ziv E, Zonderman AB, Folsom AR, Evans MK, Liu Y, Becker DM, Snively BM, Wilson JG. Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). PLoS Genet. 2011 Jun; 7(6):e1002108. View in: PubMed

Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Rüther E, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Gallacher J, Hüll M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet. 2011 May; 43(5):429-35. View in: PubMed

Marelli C, van de Leemput J, Johnson JO, Tison F, Thauvin-Robinet C, Picard F, Tranchant C, Hernandez DG, Huttin B, Boulliat J, Sangla I, Marescaux C, Brique S, Dollfus H, Arepalli S, Benatru I, Ollagnon E, Forlani S, Hardy J, Stevanin G, Dürr A, Singleton A, Brice A. SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Arch Neurol. 2011 May; 68(5):637-43. View in: PubMed

Anderson CD, Nalls MA, Biffi A, Rost NS, Greenberg SM, Singleton AB, Meschia JF, Rosand J. The effect of survival bias on case-control genetic association studies of highly lethal diseases. Circ Cardiovasc Genet. 2011 Apr; 4(2):188-96. View in: PubMed

Pearson JP, Williams NM, Majounie E, Waite A, Stott J, Newsway V, Murray A, Hernandez D, Guerreiro R, Singleton AB, Neal J, Morris HR. Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol. 2011 Apr; 258(4):647-55. View in: PubMed

Hernandez DG, Nalls MA, Gibbs JR, Arepalli S, van der Brug M, Chong S, Moore M, Longo DL, Cookson MR, Traynor BJ, Singleton AB. Distinct DNA methylation changes highly correlated with chronological age in the human brain. Hum Mol Genet. 2011 Mar 15; 20(6):1164-72. View in: PubMed

Brooks JA, Houlden H, Melchers A, Islam AJ, Ding J, Li A, Paudel R, Revesz T, Holton JL, Wood N, Lees A, Singleton AB, Scholz SW. Mutational analysis of parkin and PINK1 in multiple system atrophy. Neurobiol Aging. 2011 Mar; 32(3):548. e5-7. View in: PubMed

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet. 2011 Feb 19; 377(9766):641-9. View in: PubMed

Peuralinna T, Tanskanen M, Mäkelä M, Polvikoski T, Paetau A, Kalimo H, Sulkava R, Hardy J, Lai SL, Arepalli S, Hernandez D, Traynor BJ, Singleton A, Tienari PJ, Myllykangas L. APOE and AßPP gene variation in cortical and cerebrovascular amyloid-ß pathology and Alzheimer's disease: a population-based analysis. J Alzheimers Dis. 2011; 26(2):377-85. View in: PubMed

Akula N, Baranova A, Seto D, Solka J, Nalls MA, Singleton A, Ferrucci L, Tanaka T, Bandinelli S, Cho YS, Kim YJ, Lee JY, Han BG. A network-based approach to prioritize results from genome-wide association studies. PLoS One. 2011; 6(9):e24220. View in: PubMed

Meschia JF, Singleton A, Nalls MA, Rich SS, Sharma P, Ferrucci L, Matarin M, Hernandez DG, Pearce K, Brott TG, Brown RD, Hardy J, Worrall BB. Genomic risk profiling of ischemic stroke: results of an international genome-wide association meta-analysis. PLoS One. 2011; 6(9):e23161. View in: PubMed

Carrasquillo MM, Nicholson AM, Finch N, Gibbs JR, Baker M, Rutherford NJ, Hunter TA, DeJesus-Hernandez M, Bisceglio GD, Mackenzie IR, Singleton A, Cookson MR, Crook JE, Dillman A, Hernandez D, Petersen RC, Graff-Radford NR, Younkin SG, Rademakers R. Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. Am J Hum Genet. 2010 Dec 10; 87(6):890-7. View in: PubMed

Tucci A, Nalls MA, Houlden H, Revesz T, Singleton AB, Wood NW, Hardy J, Paisán-Ruiz C. Genetic variability at the PARK16 locus. Eur J Hum Genet. 2010 Dec; 18(12):1356-9. View in: PubMed

Singleton AB, Gibbs JR. Another locus, a new method. Brain. 2010 Dec; 133(Pt 12):3492-3. View in: PubMed

Traynor BJ, Singleton AB. Nature versus nurture: death of a dogma, and the road ahead. Neuron. 2010 Oct 21; 68(2):196-200. View in: PubMed

Johnson JO, Gibbs JR, Van Maldergem L, Houlden H, Singleton AB. Exome sequencing in Brown-Vialetto-van Laere syndrome. Am J Hum Genet. 2010 Oct 8; 87(4):567-9; author reply 569-70. View in: PubMed

Singleton AB, Hardy J, Traynor BJ, Houlden H. Towards a complete resolution of the genetic architecture of disease. Trends Genet. 2010 Oct; 26(10):438-42. View in: PubMed

Paisán-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E, Schneider SA, Schwingenschuh P, Bajaj N, Emre M, Singleton AB, Hardy J, Bhatia KP, Brandner S, Lees AJ, Houlden H. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord. 2010 Sep 15; 25(12):1791-800. View in: PubMed

Barr TL, Conley Y, Ding J, Dillman A, Warach S, Singleton A, Matarin M. Genomic biomarkers and cellular pathways of ischemic stroke by RNA gene expression profiling. Neurology. 2010 Sep 14; 75(11):1009-14. View in: PubMed

Corneveaux JJ, Myers AJ, Allen AN, Pruzin JJ, Ramirez M, Engel A, Nalls MA, Chen K, Lee W, Chewning K, Villa SE, Meechoovet HB, Gerber JD, Frost D, Benson HL, O'Reilly S, Chibnik LB, Shulman JM, Singleton AB, Craig DW, Van Keuren-Jensen KR, Dunckley T, Bennett DA, De Jager PL, Heward C, Hardy J, Reiman EM, Huentelman MJ. Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Hum Mol Genet. 2010 Aug 15; 19(16):3295-301. View in: PubMed

Meilleur KG, Traoré M, Sangaré M, Britton A, Landouré G, Coulibaly S, Niaré B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney MT, Blackstone C, Singleton A, Fischbeck KH. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. Neurogenetics. 2010 Jul; 11(3):313-8. View in: PubMed

Kapur K, Johnson T, Beckmann ND, Sehmi J, Tanaka T, Kutalik Z, Styrkarsdottir U, Zhang W, Marek D, Gudbjartsson DF, Milaneschi Y, Holm H, Diiorio A, Waterworth D, Li Y, Singleton AB, Bjornsdottir US, Sigurdsson G, Hernandez DG, Desilva R, Elliott P, Eyjolfsson GI, Guralnik JM, Scott J, Thorsteinsdottir U, Bandinelli S, Chambers J, Stefansson K, Waeber G, Ferrucci L, Kooner JS, Mooser V, Vollenweider P, Beckmann JS, Bochud M, Bergmann S. Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene. PLoS Genet. 2010 Jul; 6(7):e1001035. View in: PubMed

Eerola J, Luoma PT, Peuralinna T, Scholz S, Paisan-Ruiz C, Suomalainen A, Singleton AB, Tienari PJ. POLG1 polyglutamine tract variants associated with Parkinson's disease. Neurosci Lett. 2010 Jun 14; 477(1):1-5. View in: PubMed

Biffi A, Anderson CD, Nalls MA, Rahman R, Sonni A, Cortellini L, Rost NS, Matarin M, Hernandez DG, Plourde A, de Bakker PI, Ross OA, Greenberg SM, Furie KL, Meschia JF, Singleton AB, Saxena R, Rosand J. Principal-component analysis for assessment of population stratification in mitochondrial medical genetics. Am J Hum Genet. 2010 Jun 11; 86(6):904-17. View in: PubMed

Gibbs JR, van der Brug MP, Hernandez DG, Traynor BJ, Nalls MA, Lai SL, Arepalli S, Dillman A, Rafferty IP, Troncoso J, Johnson R, Zielke HR, Ferrucci L, Longo DL, Cookson MR, Singleton AB. Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PLoS Genet. 2010 May; 6(5):e1000952. View in: PubMed

Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gómez-Isla T, Hernández I, Lleó A, Machado A, Martínez-Lage P, Masdeu J, Molina-Porcel L, Molinuevo JL, Pastor P, Pérez-Tur J, Relvas R, Oliveira CR, Ribeiro MH, Rogaeva E, Sa A, Samaranch L, Sánchez-Valle R, Santana I, Tàrraga L, Valdivieso F, Singleton A, Hardy J, Clarimón J. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging. 2010 May; 31(5):725-31. View in: PubMed

Schorge S, van de Leemput J, Singleton A, Houlden H, Hardy J. Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling. Trends Neurosci. 2010 May; 33(5):211-9. View in: PubMed

van de Leemput J, Wavrant-De Vrièze F, Rafferty I, Bras JM, Giunti P, Fisher EM, Hardy JA, Singleton AB, Houlden H. Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series. Mov Disord. 2010 Apr 30; 25(6):771-3. View in: PubMed

Matarin M, Singleton A, Hardy J, Meschia J. The genetics of ischaemic stroke. J Intern Med. 2010 Feb; 267(2):139-55. View in: PubMed

Guerreiro RJ, Washecka N, Hardy J, Singleton A. A thorough assessment of benign genetic variability in GRN and MAPT. Hum Mutat. 2010 Feb; 31(2):E1126-40. View in: PubMed

Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, Elliott P, Rybin D, Thorleifsson G, Steinthorsdottir V, Henneman P, Grallert H, Dehghan A, Hottenga JJ, Franklin CS, Navarro P, Song K, Goel A, Perry JR, Egan JM, Lajunen T, Grarup N, Sparsø T, Doney A, Voight BF, Stringham HM, Li M, Kanoni S, Shrader P, Cavalcanti-Proença C, Kumari M, Qi L, Timpson NJ, Gieger C, Zabena C, Rocheleau G, Ingelsson E, An P, O'Connell J, Luan J, Elliott A, McCarroll SA, Payne F, Roccasecca RM, Pattou F, Sethupathy P, Ardlie K, Ariyurek Y, Balkau B, Barter P, Beilby JP, Ben-Shlomo Y, Benediktsson R, Bennett AJ, Bergmann S, Bochud M, Boerwinkle E, Bonnefond A, Bonnycastle LL, Borch-Johnsen K, Böttcher Y, Brunner E, Bumpstead SJ, Charpentier G, Chen YD, Chines P, Clarke R, Coin LJ, Cooper MN, Cornelis M, Crawford G, Crisponi L, Day IN, de Geus EJ, Delplanque J, Dina C, Erdos MR, Fedson AC, Fischer-Rosinsky A, Forouhi NG, Fox CS, Frants R, Franzosi MG, Galan P, Goodarzi MO, Graessler J, Groves CJ, Grundy S, Gwilliam R, Gyllensten U, Hadjadj S, Hallmans G, Hammond N, Han X, Hartikainen AL, Hassanali N, Hayward C, Heath SC, Hercberg S, Herder C, Hicks AA, Hillman DR, Hingorani AD, Hofman A, Hui J, Hung J, Isomaa B, Johnson PR, Jørgensen T, Jula A, Kaakinen M, Kaprio J, Kesaniemi YA, Kivimaki M, Knight B, Koskinen S, Kovacs P, Kyvik KO, Lathrop GM, Lawlor DA, Le Bacquer O, Lecoeur C, Li Y, Lyssenko V, Mahley R, Mangino M, Manning AK, Martínez-Larrad MT, McAteer JB, McCulloch LJ, McPherson R, Meisinger C, Melzer D, Meyre D, Mitchell BD, Morken MA, Mukherjee S, Naitza S, Narisu N, Neville MJ, Oostra BA, Orrù M, Pakyz R, Palmer CN, Paolisso G, Pattaro C, Pearson D, Peden JF, Pedersen NL, Perola M, Pfeiffer AF, Pichler I, Polasek O, Posthuma D, Potter SC, Pouta A, Province MA, Psaty BM, Rathmann W, Rayner NW, Rice K, Ripatti S, Rivadeneira F, Roden M, Rolandsson O, Sandbaek A, Sandhu M, Sanna S, Sayer AA, Scheet P, Scott LJ, Seedorf U, Sharp SJ, Shields B, Sigurethsson G, Sijbrands EJ, Silveira A, Simpson L, Singleton A, Smith NL, Sovio U, Swift A, Syddall H, Syvänen AC, Tanaka T, Thorand B, Tichet J, Tönjes A, Tuomi T, Uitterlinden AG, van Dijk KW, van Hoek M, Varma D, Visvikis-Siest S, Vitart V, Vogelzangs N, Waeber G, Wagner PJ, Walley A, Walters GB, Ward KL, Watkins H, Weedon MN, Wild SH, Willemsen G, Witteman JC, Yarnell JW, Zeggini E, Zelenika D, Zethelius B, Zhai G, Zhao JH, Zillikens MC. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet. 2010 Feb; 42(2):105-16. View in: PubMed

Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, Vollenweider P, Lyssenko V, Bouatia-Naji N, Dupuis J, Jackson AU, Kao WH, Li M, Glazer NL, Manning AK, Luan J, Stringham HM, Prokopenko I, Johnson T, Grarup N, Boesgaard TW, Lecoeur C, Shrader P, O'Connell J, Ingelsson E, Couper DJ, Rice K, Song K, Andreasen CH, Dina C, Köttgen A, Le Bacquer O, Pattou F, Taneera J, Steinthorsdottir V, Rybin D, Ardlie K, Sampson M, Qi L, van Hoek M, Weedon MN, Aulchenko YS, Voight BF, Grallert H, Balkau B, Bergman RN, Bielinski SJ, Bonnefond A, Bonnycastle LL, Borch-Johnsen K, Böttcher Y, Brunner E, Buchanan TA, Bumpstead SJ, Cavalcanti-Proença C, Charpentier G, Chen YD, Chines PS, Collins FS, Cornelis M, J Crawford G, Delplanque J, Doney A, Egan JM, Erdos MR, Firmann M, Forouhi NG, Fox CS, Goodarzi MO, Graessler J, Hingorani A, Isomaa B, Jørgensen T, Kivimaki M, Kovacs P, Krohn K, Kumari M, Lauritzen T, Lévy-Marchal C, Mayor V, McAteer JB, Meyre D, Mitchell BD, Mohlke KL, Morken MA, Narisu N, Palmer CN, Pakyz R, Pascoe L, Payne F, Pearson D, Rathmann W, Sandbaek A, Sayer AA, Scott LJ, Sharp SJ, Sijbrands E, Singleton A, Siscovick DS, Smith NL, Sparsø T, Swift AJ, Syddall H, Thorleifsson G, Tönjes A, Tuomi T, Tuomilehto J, Valle TT, Waeber G, Walley A, Waterworth DM, Zeggini E, Zhao JH. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet. 2010 Feb; 42(2):142-8. View in: PubMed

Tanaka T, Roy CN, Yao W, Matteini A, Semba RD, Arking D, Walston JD, Fried LP, Singleton A, Guralnik J, Abecasis GR, Bandinelli S, Longo DL, Ferrucci L. A genome-wide association analysis of serum iron concentrations. Blood. 2010 Jan 7; 115(1):94-6. View in: PubMed

Wang C, Szpiech ZA, Degnan JH, Jakobsson M, Pemberton TJ, Hardy JA, Singleton AB, Rosenberg NA. Comparing spatial maps of human population-genetic variation using Procrustes analysis. Stat Appl Genet Mol Biol. 2010; 9:Article 13. View in: PubMed

Guerreiro RJ, Beck J, Gibbs JR, Santana I, Rossor MN, Schott JM, Nalls MA, Ribeiro H, Santiago B, Fox NC, Oliveira C, Collinge J, Mead S, Singleton A, Hardy J. Genetic variability in CLU and its association with Alzheimer's disease. PLoS One. 2010; 5(3):e9510. View in: PubMed

Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, Gerrish A, Pahwa JS, Jones N, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Peters O, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Rüther E, Carrasquillo MM, Pankratz VS, Younkin SG, Hardy J, O'Donovan MC, Owen MJ, Williams J. Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One. 2010; 5(11):e13950. View in: PubMed

Clarimón J, Djaldetti R, Lleó A, Guerreiro RJ, Molinuevo JL, Paisán-Ruiz C, Gómez-Isla T, Blesa R, Singleton A, Hardy J. Whole genome analysis in a consanguineous family with early onset Alzheimer's disease. Neurobiol Aging. 2009 Dec; 30(12):1986-91. View in: PubMed

Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet. 2009 Dec; 41(12):1308-12. View in: PubMed

Ganesh SK, Zakai NA, van Rooij FJ, Soranzo N, Smith AV, Nalls MA, Chen MH, Kottgen A, Glazer NL, Dehghan A, Kuhnel B, Aspelund T, Yang Q, Tanaka T, Jaffe A, Bis JC, Verwoert GC, Teumer A, Fox CS, Guralnik JM, Ehret GB, Rice K, Felix JF, Rendon A, Eiriksdottir G, Levy D, Patel KV, Boerwinkle E, Rotter JI, Hofman A, Sambrook JG, Hernandez DG, Zheng G, Bandinelli S, Singleton AB, Coresh J, Lumley T, Uitterlinden AG, Vangils JM, Launer LJ, Cupples LA, Oostra BA, Zwaginga JJ, Ouwehand WH, Thein SL, Meisinger C, Deloukas P, Nauck M, Spector TD, Gieger C, Gudnason V, van Duijn CM, Psaty BM, Ferrucci L, Chakravarti A, Greinacher A, O'Donnell CJ, Witteman JC, Furth S, Cushman M, Harris TB, Lin JP. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet. 2009 Nov; 41(11):1191-8. View in: PubMed

Matarin M, Brown WM, Dena H, Britton A, De Vrieze FW, Brott TG, Brown RD, Worrall BB, Case LD, Chanock SJ, Metter EJ, Ferruci L, Gamble D, Hardy JA, Rich SS, Singleton A, Meschia JF. Candidate gene polymorphisms for ischemic stroke. Stroke. 2009 Nov; 40(11):3436-42. View in: PubMed

Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009 Oct 22; 361(17):1651-61. View in: PubMed

Guerreiro RJ, Vaskov T, Crews C, Singleton A, Hardy J. A case of dementia with PRNP D178Ncis-129M and no insomnia. Alzheimer Dis Assoc Disord. 2009 Oct-Dec; 23(4):415-7. View in: PubMed

Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Heun R, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet. 2009 Oct; 41(10):1088-93. View in: PubMed

Wheeler HE, Metter EJ, Tanaka T, Absher D, Higgins J, Zahn JM, Wilhelmy J, Davis RW, Singleton A, Myers RM, Ferrucci L, Kim SK. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. PLoS Genet. 2009 Oct; 5(10):e1000685. View in: PubMed

Bras J, Paisan-Ruiz C, Guerreiro R, Ribeiro MH, Morgadinho A, Januario C, Sidransky E, Oliveira C, Singleton A. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol Aging. 2009 Sep; 30(9):1515-7. View in: PubMed

Murray A, Cluett C, Bandinelli S, Corsi AM, Ferrucci L, Guralnik J, Singleton A, Frayling T, Melzer D. Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people. Eur Heart J. 2009 Jul; 30(14):1711-9. View in: PubMed

Nalls MA, Guerreiro RJ, Simon-Sanchez J, Bras JT, Traynor BJ, Gibbs JR, Launer L, Hardy J, Singleton AB. Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease. Neurogenetics. 2009 Jul; 10(3):183-90. View in: PubMed

Bras JM, Singleton A. Genetic susceptibility in Parkinson's disease. Biochim Biophys Acta. 2009 Jul; 1792(7):597-603. View in: PubMed

Paisán-Ruiz C, Washecka N, Nath P, Singleton AB, Corder EH. Parkinson's disease and low frequency alleles found together throughout LRRK2. Ann Hum Genet. 2009 Jul; 73(Pt 4):391-403. View in: PubMed

Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain. 2009 Jul; 132(Pt 7):1783-94. View in: PubMed

Brooks J, Ding J, Simon-Sanchez J, Paisan-Ruiz C, Singleton AB, Scholz SW. Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control. J Med Genet. 2009 Jun; 46(6):375-81. View in: PubMed

Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SF, Schellenberg GD, Geschwind DH, Hakonarson H. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet. 2009 Jun; 5(6):e1000536. View in: PubMed

Perry JR, Stolk L, Franceschini N, Lunetta KL, Zhai G, McArdle PF, Smith AV, Aspelund T, Bandinelli S, Boerwinkle E, Cherkas L, Eiriksdottir G, Estrada K, Ferrucci L, Folsom AR, Garcia M, Gudnason V, Hofman A, Karasik D, Kiel DP, Launer LJ, van Meurs J, Nalls MA, Rivadeneira F, Shuldiner AR, Singleton A, Soranzo N, Tanaka T, Visser JA, Weedon MN, Wilson SG, Zhuang V, Streeten EA, Harris TB, Murray A, Spector TD, Demerath EW, Uitterlinden AG, Murabito JM. Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. Nat Genet. 2009 Jun; 41(6):648-50. View in: PubMed

Traynor BJ, Singleton AB. What's the FUS! Lancet Neurol. 2009 May; 8(5):418-9. View in: PubMed

Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, Arepalli S, Zonozi RR, Revesz T, Holton J, Wood N, Lees A, Oertel W, Wüllner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Del Sorbo F, Schneider S, Bhatia KP, Gasser T. SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol. 2009 May; 65(5):610-4. View in: PubMed

Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, López LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet. 2009 May; 84(5):558-66. View in: PubMed

Hardy J, Singleton A. Genomewide association studies and human disease. N Engl J Med. 2009 Apr 23; 360(17):1759-68. View in: PubMed

Camargos ST, Dornas LO, Momeni P, Lees A, Hardy J, Singleton A, Cardoso F. Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations. Mov Disord. 2009 Apr 15; 24(5):662-6. View in: PubMed

Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La Bella V, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet. 2009 Apr 15; 18(8):1524-32. View in: PubMed

Tanaka T, Scheet P, Giusti B, Bandinelli S, Piras MG, Usala G, Lai S, Mulas A, Corsi AM, Vestrini A, Sofi F, Gori AM, Abbate R, Guralnik J, Singleton A, Abecasis GR, Schlessinger D, Uda M, Ferrucci L. Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Am J Hum Genet. 2009 Apr; 84(4):477-82. View in: PubMed

Defazio G, Matarin M, Peckham EL, Martino D, Valente EM, Singleton A, Crawley A, Aniello MS, Brancati F, Abbruzzese G, Girlanda P, Livrea P, Hallett M, Berardelli A. The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. Mov Disord. 2009 Mar 15; 24(4):613-6. View in: PubMed

Nalls MA, Simon-Sanchez J, Gibbs JR, Paisan-Ruiz C, Bras JT, Tanaka T, Matarin M, Scholz S, Weitz C, Harris TB, Ferrucci L, Hardy J, Singleton AB. Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics. PLoS Genet. 2009 Mar; 5(3):e1000415. View in: PubMed

Ferrucci L, Perry JR, Matteini A, Perola M, Tanaka T, Silander K, Rice N, Melzer D, Murray A, Cluett C, Fried LP, Albanes D, Corsi AM, Cherubini A, Guralnik J, Bandinelli S, Singleton A, Virtamo J, Walston J, Semba RD, Frayling TM. Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. Am J Hum Genet. 2009 Feb; 84(2):123-33. View in: PubMed

Huang L, Li Y, Singleton AB, Hardy JA, Abecasis G, Rosenberg NA, Scheet P. Genotype-imputation accuracy across worldwide human populations. Am J Hum Genet. 2009 Feb; 84(2):235-50. View in: PubMed

Bras J, Simón-Sánchez J, Federoff M, Morgadinho A, Januario C, Ribeiro M, Cunha L, Oliveira C, Singleton AB. Lack of replication of association between GIGYF2 variants and Parkinson disease. Hum Mol Genet. 2009 Jan 15; 18(2):341-6. View in: PubMed

Wickremaratchi MM, Majounie E, Morris HR, Williams NM, Lewis H, Gill SS, Khan S, Heywood P, Hardy J, Wiles CM, Singleton AB, Quinn NP. Parkin-related disease clinically diagnosed as a pallido-pyramidal syndrome. Mov Disord. 2009 Jan 15; 24(1):138-40. View in: PubMed

Bronstein J, Carvey P, Chen H, Cory-Slechta D, DiMonte D, Duda J, English P, Goldman S, Grate S, Hansen J, Hoppin J, Jewell S, Kamel F, Koroshetz W, Langston JW, Logroscino G, Nelson L, Ravina B, Rocca W, Ross GW, Schettler T, Schwarzschild M, Scott B, Seegal R, Singleton A, Steenland K, Tanner CM, Van Den Eeden S, Weisskopf M. Meeting report: consensus statement-Parkinson's disease and the environment: collaborative on health and the environment and Parkinson's Action Network (CHE PAN) conference 26-28 June 2007. Environ Health Perspect. 2009 Jan; 117(1):117-21. View in: PubMed

Tanaka T, Shen J, Abecasis GR, Kisialiou A, Ordovas JM, Guralnik JM, Singleton A, Bandinelli S, Cherubini A, Arnett D, Tsai MY, Ferrucci L. Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. PLoS Genet. 2009 Jan; 5(1):e1000338. View in: PubMed

Liu W, Ding J, Gibbs JR, Wang SJ, Hardy J, Singleton A. A simple and efficient algorithm for genome-wide homozygosity analysis in disease. Mol Syst Biol. 2009; 5:304. View in: PubMed

Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol. 2009 Jan; 65(1):19-23. View in: PubMed

Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJ, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB. A duplication at chromosome 11q12. 2-11q12. 3 is associated with spinocerebellar ataxia type 20. Hum Mol Genet. 2008 Dec 15; 17(24):3847-53. View in: PubMed

Bras J, Singleton A, Cookson MR, Hardy J. Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. FEBS J. 2008 Dec; 275(23):5767-73. View in: PubMed

Simón-Sánchez J, Singleton A. Genome-wide association studies in neurological disorders. Lancet Neurol. 2008 Nov; 7(11):1067-72. View in: PubMed

Ludlow CL, Adler CH, Berke GS, Bielamowicz SA, Blitzer A, Bressman SB, Hallett M, Jinnah HA, Juergens U, Martin SB, Perlmutter JS, Sapienza C, Singleton A, Tanner CM, Woodson GE. Research priorities in spasmodic dysphonia. Otolaryngol Head Neck Surg. 2008 Oct; 139(4):495-505. View in: PubMed

Yuan X, Waterworth D, Perry JR, Lim N, Song K, Chambers JC, Zhang W, Vollenweider P, Stirnadel H, Johnson T, Bergmann S, Beckmann ND, Li Y, Ferrucci L, Melzer D, Hernandez D, Singleton A, Scott J, Elliott P, Waeber G, Cardon L, Frayling TM, Kooner JS, Mooser V. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am J Hum Genet. 2008 Oct; 83(4):520-8. View in: PubMed

Paisan-Ruiz C, Nath P, Wood NW, Singleton A, Houlden H. Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). Eur J Neurol. 2008 Oct; 15(10):1065-70. View in: PubMed

Peuralinna T, Oinas M, Polvikoski T, Paetau A, Sulkava R, Niinistö L, Kalimo H, Hernandez D, Hardy J, Singleton A, Tienari PJ, Myllykangas L. Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein. Ann Neurol. 2008 Sep; 64(3):348-52. View in: PubMed

Panicker V, Cluett C, Shields B, Murray A, Parnell KS, Perry JR, Weedon MN, Singleton A, Hernandez D, Evans J, Durant C, Ferrucci L, Melzer D, Saravanan P, Visser TJ, Ceresini G, Hattersley AT, Vaidya B, Dayan CM, Frayling TM. A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine. J Clin Endocrinol Metab. 2008 Aug; 93(8):3075-81. View in: PubMed

Guerreiro RJ, Santana I, Bras JM, Revesz T, Rebelo O, Ribeiro MH, Santiago B, Oliveira CR, Singleton A, Hardy J. Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases. Mov Disord. 2008 Jul 15; 23(9):1269-73. View in: PubMed

Simón-Sánchez J, Singleton AB. Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. Hum Mol Genet. 2008 Jul 1; 17(13):1988-93. View in: PubMed

Pchelina SN, Yakimovskii AF, Emelyanov AK, Ivanova ON, Schwarzman AL, Singleton AB. Screening for LRRK2 mutations in patients with Parkinson's disease in Russia: identification of a novel LRRK2 variant. Eur J Neurol. 2008 Jul; 15(7):692-6. View in: PubMed

Singleton A, Morris H. Association, expression, pathobiology: is too much tau in PD a blueprint for genetic association? Neurology. 2008 Jul 1; 71(1):11-2. View in: PubMed

Scholz S, Singleton A. Susceptibility genes in movement disorders. Mov Disord. 2008 May 15; 23(7):927-34; quiz 1064. View in: PubMed

Xiromerisiou G, Hadjigeorgiou GM, Papadimitriou A, Katsarogiannis E, Gourbali V, Singleton AB. Association between AKT1 gene and Parkinson's disease: a protective haplotype. Neurosci Lett. 2008 May 9; 436(2):232-4. View in: PubMed

Matarin M, Brown WM, Singleton A, Hardy JA, Meschia JF. Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21. Stroke. 2008 May; 39(5):1586-9. View in: PubMed

Matarin M, Simon-Sanchez J, Fung HC, Scholz S, Gibbs JR, Hernandez DG, Crews C, Britton A, De Vrieze FW, Brott TG, Brown RD, Worrall BB, Silliman S, Case LD, Hardy JA, Rich SS, Meschia JF, Singleton AB. Structural genomic variation in ischemic stroke. Neurogenetics. 2008 May; 9(2):101-8. View in: PubMed

Melzer D, Perry JR, Hernandez D, Corsi AM, Stevens K, Rafferty I, Lauretani F, Murray A, Gibbs JR, Paolisso G, Rafiq S, Simon-Sanchez J, Lango H, Scholz S, Weedon MN, Arepalli S, Rice N, Washecka N, Hurst A, Britton A, Henley W, van de Leemput J, Li R, Newman AB, Tranah G, Harris T, Panicker V, Dayan C, Bennett A, McCarthy MI, Ruokonen A, Jarvelin MR, Guralnik J, Bandinelli S, Frayling TM, Singleton A, Ferrucci L. A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet. 2008 May; 4(5):e1000072. View in: PubMed

Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson SF, Singleton AB, Lee MK, Rapoport JL, King MC, Sebat J. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science. 2008 Apr 25; 320(5875):539-43. View in: PubMed

Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology. 2008 Apr 15; 70(16 Pt 2):1384-9. View in: PubMed

Paisán-Ruíz C, Nath P, Washecka N, Gibbs JR, Singleton AB. Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls. Hum Mutat. 2008 Apr; 29(4):485-90. View in: PubMed

Clarimón J, Pagonabarraga J, Paisán-Ruíz C, Campolongo A, Pascual-Sedano B, Martí-Massó JF, Singleton AB, Kulisevsky J. Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening. Mov Disord. 2008 Mar 15; 23(4):518-23. View in: PubMed

Hardy J, Low N, Singleton A. Whole genome association studies: deciding when persistence becomes perseveration. Am J Med Genet B Neuropsychiatr Genet. 2008 Mar 5; 147B(2):131-3. View in: PubMed

Hardy J, Singleton A. The HapMap: charting a course for genetic discovery in neurological diseases. Arch Neurol. 2008 Mar; 65(3):319-21. View in: PubMed

Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol. 2008 Mar; 7(3):207-15. View in: PubMed

Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet. 2008 Mar; 82(3):652-60. View in: PubMed

Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB. Genotype, haplotype and copy-number variation in worldwide human populations. Nature. 2008 Feb 21; 451(7181):998-1003. View in: PubMed

Simon-Sanchez J, Scholz S, Matarin Mdel M, Fung HC, Hernandez D, Gibbs JR, Britton A, Hardy J, Singleton A. Genomewide SNP assay reveals mutations underlying Parkinson disease. Hum Mutat. 2008 Feb; 29(2):315-22. View in: PubMed

Camargos ST, Cardoso F, Momeni P, Gianetti JG, Lees A, Hardy J, Singleton A. Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia. Mov Disord. 2008 Jan 30; 23(2):299-302. View in: PubMed

Bras J, Guerreiro R, Ribeiro M, Morgadinho A, Januario C, Dias M, Calado A, Semedo C, Oliveira C, Hardy J, Singleton A. Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. BMC Neurol. 2008; 8:1. View in: PubMed

Guerreiro RJ, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ. TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. PLoS One. 2008; 3(6):e2450. View in: PubMed

Matarin M, Brown WM, Hardy JA, Rich SS, Singleton AB, Brown RD, Brott TG, Worrall BB, Meschia JF. Association of integrin alpha2 gene variants with ischemic stroke. J Cereb Blood Flow Metab. 2008 Jan; 28(1):81-9. View in: PubMed

Tanskanen M, Peuralinna T, Polvikoski T, Notkola IL, Sulkava R, Hardy J, Singleton A, Kiuru-Enari S, Paetau A, Tienari PJ, Myllykangas L. Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study. Ann Med. 2008; 40(3):232-9. View in: PubMed

Okubadejo N, Britton A, Crews C, Akinyemi R, Hardy J, Singleton A, Bras J. Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3. PLoS One. 2008; 3(10):e3421. View in: PubMed

Greggio E, Singleton A. Kinase signaling pathways as potential targets in the treatment of Parkinson's disease. Expert Rev Proteomics. 2007 Dec; 4(6):783-92. View in: PubMed

Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Giunti P, Wood NW. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet. 2007 Dec; 39(12):1434-6. View in: PubMed

Goldstein DS, Imrich R, Peckham E, Holmes C, Lopez G, Crews C, Hardy J, Singleton A, Hallett M. Neurocirculatory and nigrostriatal abnormalities in Parkinson disease from LRRK2 mutation. Neurology. 2007 Oct 16; 69(16):1580-4. View in: PubMed

Traynor BJ, Singleton A. Genome-wide association studies and ALS: are we there yet? Lancet Neurol. 2007 Oct; 6(10):841-3. View in: PubMed

Hardy J, Singleton A. Reporting and interpretation of genetic variants in cases and controls. Neurology. 2007 Jul 3; 69(1):111-2. View in: PubMed

Schymick JC, Yang Y, Andersen PM, Vonsattel JP, Greenway M, Momeni P, Elder J, Chiò A, Restagno G, Robberecht W, Dahlberg C, Mukherjee O, Goate A, Graff-Radford N, Caselli RJ, Hutton M, Gass J, Cannon A, Rademakers R, Singleton AB, Hardiman O, Rothstein J, Hardy J, Traynor BJ. Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes. J Neurol Neurosurg Psychiatry. 2007 Jul; 78(7):754-6. View in: PubMed

van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 2007 Jun; 3(6):e108. View in: PubMed

Matarín M, Brown WM, Scholz S, Simón-Sánchez J, Fung HC, Hernandez D, Gibbs JR, De Vrieze FW, Crews C, Britton A, Langefeld CD, Brott TG, Brown RD, Worrall BB, Frankel M, Silliman S, Case LD, Singleton A, Hardy JA, Rich SS, Meschia JF. A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. Lancet Neurol. 2007 May; 6(5):414-20. View in: PubMed

Worrall BB, Brott TG, Brown RD, Brown WM, Rich SS, Arepalli S, Wavrant-De Vrièze F, Duckworth J, Singleton AB, Hardy J, Meschia JF. IL1RN VNTR polymorphism in ischemic stroke: analysis in 3 populations. Stroke. 2007 Apr; 38(4):1189-96. View in: PubMed

Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, Lombardo F, Matarin M, Kasperaviciute D, Hernandez DG, Crews C, Bruijn L, Rothstein J, Mora G, Restagno G, Chiò A, Singleton A, Hardy J, Traynor BJ. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol. 2007 Apr; 6(4):322-8. View in: PubMed

Clarimon J, Gray RR, Williams LN, Enoch MA, Robin RW, Albaugh B, Singleton A, Goldman D, Mulligan CJ. Linkage disequilibrium and association analysis of alpha-synuclein and alcohol and drug dependence in two American Indian populations. Alcohol Clin Exp Res. 2007 Apr; 31(4):546-54. View in: PubMed

Xiromerisiou G, Hadjigeorgiou GM, Eerola J, Fernandez HH, Tsimourtou V, Mandel R, Hellström O, Gwinn-Hardy K, Okun MS, Tienari PJ, Singleton AB. BDNF tagging polymorphisms and haplotype analysis in sporadic Parkinson's disease in diverse ethnic groups. Neurosci Lett. 2007 Mar 19; 415(1):59-63. View in: PubMed

Lippa CF, Duda JE, Grossman M, Hurtig HI, Aarsland D, Boeve BF, Brooks DJ, Dickson DW, Dubois B, Emre M, Fahn S, Farmer JM, Galasko D, Galvin JE, Goetz CG, Growdon JH, Gwinn-Hardy KA, Hardy J, Heutink P, Iwatsubo T, Kosaka K, Lee VM, Leverenz JB, Masliah E, McKeith IG, Nussbaum RL, Olanow CW, Ravina BM, Singleton AB, Tanner CM, Trojanowski JQ, Wszolek ZK. DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers. Neurology. 2007 Mar 13; 68(11):812-9. View in: PubMed

Wiklund PG, Brown WM, Brott TG, Stegmayr B, Brown RD, Nilsson-Ardnor S, Hardy JA, Kissela BM, Singleton A, Holmberg D, Rich SS, Meschia JF. Lack of aggregation of ischemic stroke subtypes within affected sibling pairs. Neurology. 2007 Feb 6; 68(6):427-31. View in: PubMed

Kovac IP, Havlik RJ, Foley D, Peila R, Hernandez D, Wavrant-De Vrièze F, Singleton A, Egan J, Taub D, Rodriguez B, Masaki K, Curb JD, Fujimoto WY, Wilson AF. Linkage and association analyses of type 2 diabetes/impaired glucose metabolism and adiponectin serum levels in Japanese Americans from Hawaii. Diabetes. 2007 Feb; 56(2):537-40. View in: PubMed

Low N, Singleton A. Establishing the genetic heterogeneity of familial hemiplegic migraine. Brain. 2007 Feb; 130(Pt 2):312-3. View in: PubMed

Clarimon J, Brancati F, Peckham E, Valente EM, Dallapiccola B, Abruzzese G, Girlanda P, Defazio G, Berardelli A, Hallett M, Singleton AB. Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. Mov Disord. 2007 Jan 15; 22(2):162-6. View in: PubMed

Johnson J, Paisán-Ruíz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL, Foote KD, Mandel RJ, Crawley A, Reimsnider S, Fernandez HH, Okun MS, Gwinn-Hardy K, Singleton AB. Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation. Neurodegener Dis. 2007; 4(5):386-91. View in: PubMed

Gwinn K, Corriveau RA, Mitsumoto H, Bednarz K, Brown RH, Cudkowicz M, Gordon PH, Hardy J, Kasarskis EJ, Kaufmann P, Miller R, Sorenson E, Tandan R, Traynor BJ, Nash J, Sherman A, Mailman MD, Ostell J, Bruijn L, Cwik V, Rich SS, Singleton A, Refolo L, Andrews J, Zhang R, Conwit R, Keller MA. Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. PLoS One. 2007; 2(12):e1254. View in: PubMed

Xiromerisiou G, Hadjigeorgiou GM, Gourbali V, Johnson J, Papakonstantinou I, Papadimitriou A, Singleton AB. Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants. Eur J Neurol. 2007 Jan; 14(1):7-11. View in: PubMed

Hanagasi HA, Lees A, Johnson JO, Singleton A, Emre M. Smoking-responsive juvenile-onset Parkinsonism. Mov Disord. 2007 Jan; 22(1):115-9. View in: PubMed

Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, Gibbs JR, Britton A, de Vrieze FW, Peckham E, Gwinn-Hardy K, Crawley A, Keen JC, Nash J, Borgaonkar D, Hardy J, Singleton A. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet. 2007 Jan 1; 16(1):1-14. View in: PubMed

Scholz S, Mandel RJ, Fernandez HH, Foote KD, Rodriguez RL, Barton E, Munson S, Singleton A, Okun MS. LRRK2 mutations in a clinic-based cohort of Parkinson's disease. Eur J Neurol. 2006 Dec; 13(12):1298-301. View in: PubMed

Fung HC, Scholz S, Matarin M, Simón-Sánchez J, Hernandez D, Britton A, Gibbs JR, Langefeld C, Stiegert ML, Schymick J, Okun MS, Mandel RJ, Fernandez HH, Foote KD, Rodríguez RL, Peckham E, De Vrieze FW, Gwinn-Hardy K, Hardy JA, Singleton A. Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol. 2006 Nov; 5(11):911-6. View in: PubMed

Simón-Sánchez J, Martí-Massó JF, Sánchez-Mut JV, Paisán-Ruiz C, Martínez-Gil A, Ruiz-Martínez J, Sáenz A, Singleton AB, López de Munain A, Pérez-Tur J. Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques. Mov Disord. 2006 Nov; 21(11):1954-9. View in: PubMed

Matarin MM, Singleton AB, Houlden H. PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease. Neurosci Lett. 2006 Oct 23; 407(2):162-5. View in: PubMed

Gibbs JR, Singleton A. Application of genome-wide single nucleotide polymorphism typing: simple association and beyond. PLoS Genet. 2006 Oct 6; 2(10):e150. View in: PubMed

Hardy J, Cai H, Cookson MR, Gwinn-Hardy K, Singleton A. Genetics of Parkinson's disease and parkinsonism. Ann Neurol. 2006 Oct; 60(4):389-98. View in: PubMed

Shatunov A, Sambuughin N, Jankovic J, Elble R, Lee HS, Singleton AB, Dagvadorj A, Ji J, Zhang Y, Kimonis VE, Hardy J, Hallett M, Goldfarb LG. Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. Brain. 2006 Sep; 129(Pt 9):2318-31. View in: PubMed

Eblan MJ, Scholz S, Stubblefield B, Gutti U, Goker-Alpan O, Hruska KS, Singleton AB, Sidransky E. Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism. Neurosci Lett. 2006 Aug 14; 404(1-2):163-5. View in: PubMed

Greggio E, Jain S, Kingsbury A, Bandopadhyay R, Lewis P, Kaganovich A, van der Brug MP, Beilina A, Blackinton J, Thomas KJ, Ahmad R, Miller DW, Kesavapany S, Singleton A, Lees A, Harvey RJ, Harvey K, Cookson MR. Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. Neurobiol Dis. 2006 Aug; 23(2):329-41. View in: PubMed

Clarimon J, Scholz S, Fung HC, Hardy J, Eerola J, Hellstrom O, Chen CM, Wu YR, Tienari PJ, Singleton A. Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease. Am J Hum Genet. 2006 Jun; 78(6):1082-4; author reply 1092-4. View in: PubMed

Fung HC, Chen CM, Hardy J, Hernandez D, Singleton A, Wu YR. Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease. Mov Disord. 2006 Jun; 21(6):880-1. View in: PubMed

Clarimón J, Eerola J, Hellström O, Peuralinna T, Tienari PJ, Singleton AB. Assessment of PINK1 (PARK6) polymorphisms in Finnish PD. Neurobiol Aging. 2006 Jun; 27(6):906-7. View in: PubMed

Hadjigeorgiou GM, Xiromerisiou G, Gourbali V, Aggelakis K, Scarmeas N, Papadimitriou A, Singleton A. Association of alpha-synuclein Rep1 polymorphism and Parkinson's disease: influence of Rep1 on age at onset. Mov Disord. 2006 Apr; 21(4):534-9. View in: PubMed

Scholz SW, Xiromerisiou G, Fung HC, Eerola J, Hellström O, Papadimitriou A, Hadjigeorgiou GM, Tienari PJ, Fernandez HH, Mandel R, Okun MS, Gwinn-Hardy K, Singleton AB. The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations. Neurosci Lett. 2006 Mar 13; 395(3):227-9. View in: PubMed

Fung HC, Chen CM, Hardy J, Singleton AB, Lee-Chen GJ, Wu YR. Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. Neurosci Lett. 2006 Feb 6; 394(1):33-6. View in: PubMed

Nishioka K, Hayashi S, Farrer MJ, Singleton AB, Yoshino H, Imai H, Kitami T, Sato K, Kuroda R, Tomiyama H, Mizoguchi K, Murata M, Toda T, Imoto I, Inazawa J, Mizuno Y, Hattori N. Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. Ann Neurol. 2006 Feb; 59(2):298-309. View in: PubMed

Paisán-Ruíz C, Evans EW, Jain S, Xiromerisiou G, Gibbs JR, Eerola J, Gourbali V, Hellström O, Duckworth J, Papadimitriou A, Tienari PJ, Hadjigeorgiou GM, Singleton AB. Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium. J Med Genet. 2006 Feb; 43(2):e9. View in: PubMed

Hardy J, Scholz S, Evans W, Goldfarb L, Singleton A. Prion genotypes in Central America suggest selection for the V129 allele. Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5; 141B(1):33-5. View in: PubMed

Guerreiro RJ, Bras JM, Santana I, Januario C, Santiago B, Morgadinho AS, Ribeiro MH, Hardy J, Singleton A, Oliveira C. Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort. BMC Neurol. 2006; 6:24. View in: PubMed

Momeni P, Schymick J, Jain S, Cookson MR, Cairns NJ, Greggio E, Greenway MJ, Berger S, Pickering-Brown S, Chiò A, Fung HC, Holtzman DM, Huey ED, Wassermann EM, Adamson J, Hutton ML, Rogaeva E, St George-Hyslop P, Rothstein JD, Hardiman O, Grafman J, Singleton A, Hardy J, Traynor BJ. Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol. 2006; 6:44. View in: PubMed

Fung HC, Xiromerisiou G, Gibbs JR, Wu YR, Eerola J, Gourbali V, Hellström O, Chen CM, Duckworth J, Papadimitriou A, Tienari PJ, Hadjigeorgiou GM, Hardy J, Singleton AB. Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts. Neurodegener Dis. 2006; 3(6):327-33. View in: PubMed

Garcia ML, Singleton AB, Hernandez D, Ward CM, Evey C, Sapp PA, Hardy J, Brown RH, Cleveland DW. Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis. Neurobiol Dis. 2006 Jan; 21(1):102-9. View in: PubMed

Fung HC, Chen CM, Hardy J, Singleton AB, Wu YR. A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan. BMC Neurol. 2006; 6:47. View in: PubMed

Shatunov A, Jankovic J, Elble R, Sambuughin N, Singleton A, Hallett M, Goldfarb L. A variant in the HS1-BP3 gene is associated with familial essential tremor. Neurology. 2005 Dec 27; 65(12):1995; author reply 1995. View in: PubMed

Hernandez D, Paisan Ruiz C, Crawley A, Malkani R, Werner J, Gwinn-Hardy K, Dickson D, Wavrant Devrieze F, Hardy J, Singleton A. The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases. Neurosci Lett. 2005 Dec 9; 389(3):137-9. View in: PubMed

Bras JM, Guerreiro RJ, Ribeiro MH, Januario C, Morgadinho A, Oliveira CR, Cunha L, Hardy J, Singleton A. G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. Mov Disord. 2005 Dec; 20(12):1653-5. View in: PubMed

Cookson MR, Xiromerisiou G, Singleton A. How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease. Curr Opin Neurol. 2005 Dec; 18(6):706-11. View in: PubMed

Momeni P, Lu CS, Chou YH, Chang HC, Chen RS, Chen CC, Hsu JT, Singleton A, Hardy J. Taiwanese cases of SCA2 are derived from a single founder. Mov Disord. 2005 Dec; 20(12):1633-6. View in: PubMed

Khan NL, Jain S, Lynch JM, Pavese N, Abou-Sleiman P, Holton JL, Healy DG, Gilks WP, Sweeney MG, Ganguly M, Gibbons V, Gandhi S, Vaughan J, Eunson LH, Katzenschlager R, Gayton J, Lennox G, Revesz T, Nicholl D, Bhatia KP, Quinn N, Brooks D, Lees AJ, Davis MB, Piccini P, Singleton AB, Wood NW. Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. Brain. 2005 Dec; 128(Pt 12):2786-96. View in: PubMed

Plummer C, Bradfield J, Singleton AB, Hernandez D, Singleton AA, O'sullivan J. First case report of X linked dystonia parkinsonism (XDP) or 'lubag' in Australia. J Clin Neurosci. 2005 Nov; 12(8):945-6. View in: PubMed

Paisán-Ruíz C, Lang AE, Kawarai T, Sato C, Salehi-Rad S, Fisman GK, Al-Khairallah T, St George-Hyslop P, Singleton A, Rogaeva E. LRRK2 gene in Parkinson disease: mutation analysis and case control association study. Neurology. 2005 Sep 13; 65(5):696-700. View in: PubMed

Meschia JF, Brott TG, Brown RD, Crook R, Worrall BB, Kissela B, Brown WM, Rich SS, Case LD, Evans EW, Hague S, Singleton A, Hardy J. Phosphodiesterase 4D and 5-lipoxygenase activating protein in ischemic stroke. Ann Neurol. 2005 Sep; 58(3):351-61. View in: PubMed

Singleton AB. Altered alpha-synuclein homeostasis causing Parkinson's disease: the potential roles of dardarin. Trends Neurosci. 2005 Aug; 28(8):416-21. View in: PubMed

Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Bétard C, Singleton A, Hardy J, De Michele G, Bonifati V, Oostra BA, Gasser T, Wood NW, Dürr A. Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet. 2005 Jul 5; 136B(1):72-4. View in: PubMed

Clarimon J, Johnson J, Djaldetti R, Hernandez D, Hattori N, Sroka H, Barhom Y, Singleton A. Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period. Mov Disord. 2005 Jul; 20(7):887-90. View in: PubMed

Simon-Sanchez J, Hanson M, Singleton A, Hernandez D, McInerney A, Nussbaum R, Werner J, Gallardo M, Weiser R, Gwinn-Hardy K, Singleton AB, Clarimon J. Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. Neurosci Lett. 2005 Jul 1-8; 382(1-2):191-4. View in: PubMed

Clarimon J, Asgeirsson H, Singleton A, Jakobsson F, Hjaltason H, Hardy J, Sveinbjornsdottir S. Torsin A haplotype predisposes to idiopathic dystonia. Ann Neurol. 2005 May; 57(5):765-7. View in: PubMed

Greggio E, Bergantino E, Carter D, Ahmad R, Costin GE, Hearing VJ, Clarimon J, Singleton A, Eerola J, Hellström O, Tienari PJ, Miller DW, Beilina A, Bubacco L, Cookson MR. Tyrosinase exacerbates dopamine toxicity but is not genetically associated with Parkinson's disease. J Neurochem. 2005 Apr; 93(1):246-56. View in: PubMed

Khan NL, Horta W, Eunson L, Graham E, Johnson JO, Chang S, Davis M, Singleton A, Wood NW, Lees AJ. Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years. Mov Disord. 2005 Apr; 20(4):479-84. View in: PubMed

Hernandez DG, Paisán-Ruíz C, McInerney-Leo A, Jain S, Meyer-Lindenberg A, Evans EW, Berman KF, Johnson J, Auburger G, Schäffer AA, Lopez GJ, Nussbaum RL, Singleton AB. Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Ann Neurol. 2005 Mar; 57(3):453-6. View in: PubMed

Miller DW, Crawley A, Gwinn-Hardy K, Lopez G, Nussbaum R, Cookson MR, Singleton AB, Hardy J, Dogu O. Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion. Neurosci Lett. 2005 Feb 21; 374(3):189-91. View in: PubMed

Clarimon J, Johnson J, Dogu O, Horta W, Khan N, Lees AJ, Hardy J, Singleton A. Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet. 2005 Feb 5; 133B(1):120-3. View in: PubMed

Nichols WC, Pankratz N, Hernandez D, Paisán-Ruíz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, Singleton A, Foroud T. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet. 2005 Jan 29-Feb 4; 365(9457):410-2. View in: PubMed

Gilks WP, Abou-Sleiman PM, Gandhi S, Jain S, Singleton A, Lees AJ, Shaw K, Bhatia KP, Bonifati V, Quinn NP, Lynch J, Healy DG, Holton JL, Revesz T, Wood NW. A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet. 2005 Jan 29-Feb 4; 365(9457):415-6. View in: PubMed

Buervenich S, Carmine A, Galter D, Shahabi HN, Johnels B, Holmberg B, Ahlberg J, Nissbrandt H, Eerola J, Hellström O, Tienari PJ, Matsuura T, Ashizawa T, Wüllner U, Klockgether T, Zimprich A, Gasser T, Hanson M, Waseem S, Singleton A, McMahon FJ, Anvret M, Sydow O, Olson L. A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample. Arch Neurol. 2005 Jan; 62(1):74-8. View in: PubMed

Clarimon J, Xiromerisiou G, Eerola J, Gourbali V, Hellström O, Dardiotis E, Peuralinna T, Papadimitriou A, Hadjigeorgiou GM, Tienari PJ, Singleton AB. Lack of evidence for a genetic association between FGF20 and Parkinson's disease in Finnish and Greek patients. BMC Neurol. 2005; 5:11. View in: PubMed

Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol. 2004 Dec; 61(12):1898-904. View in: PubMed

Shatunov A, Fridman EA, Pagan FI, Leib J, Singleton A, Hallett M, Goldfarb LG. Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease. Clin Genet. 2004 Dec; 66(6):496-501. View in: PubMed

Busby J, O'Brien KK, Gibson AM, McKeith IG, Perry RH, Hardy JA, Singleton AB, Morris CM. Dementia with Lewy bodies: no association of polymorphisms in the human synphilin gene. Neurogenetics. 2004 Dec; 5(4):251-2. View in: PubMed

Paisán-Ruíz C, Jain S, Evans EW, Gilks WP, Simón J, van der Brug M, López de Munain A, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Carrera IM, Pena AS, de Silva R, Lees A, Martí-Massó JF, Pérez-Tur J, Wood NW, Singleton AB. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron. 2004 Nov 18; 44(4):595-600. View in: PubMed

Hanson M, Honour M, Singleton A, Crawley A, Singleton A, Hardy J, Gwinn-Hardy K. Analysis of familial and sporadic restless legs syndrome in age of onset, gender, and severity features. J Neurol. 2004 Nov; 251(11):1398-401. View in: PubMed

Evans W, Fung HC, Steele J, Eerola J, Tienari P, Pittman A, Silva Rd, Myers A, Vrieze FW, Singleton A, Hardy J. The tau H2 haplotype is almost exclusively Caucasian in origin. Neurosci Lett. 2004 Oct 21; 369(3):183-5. View in: PubMed

Evidente VG, Esteban RP, Hernandez JL, Natividad FF, Advincula J, Gwinn-Hardy K, Hardy J, Singleton A, Singleton A. Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot study. Parkinsonism Relat Disord. 2004 Oct; 10(7):407-10. View in: PubMed

Singleton A, Gwinn-Hardy K. Parkinson's disease and dementia with Lewy bodies: a difference in dose? Lancet. 2004 Sep 25-Oct 1; 364(9440):1105-7. View in: PubMed

Clarimon J, Eerola J, Hellström O, Tienari PJ, Singleton A. Paraoxonase 1 (PON1) gene polymorphisms and Parkinson's disease in a Finnish population. Neurosci Lett. 2004 Sep 2; 367(2):168-70. View in: PubMed

O'Farrell C, Lockhart PJ, Lincoln S, De Lucia M, Singleton AB, Dickson DW, Cookson MR. Biochemical characterization of torsinB. Brain Res Mol Brain Res. 2004 Aug 23; 127(1-2):1-9. View in: PubMed

Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J, Singleton AB. SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. Neurology. 2004 Aug 10; 63(3):554-6. View in: PubMed

Clark LN, Afridi S, Mejia-Santana H, Harris J, Louis ED, Cote LJ, Andrews H, Singleton A, Wavrant De-Vrieze F, Hardy J, Mayeux R, Fahn S, Waters C, Ford B, Frucht S, Ottman R, Marder K. Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations. Mov Disord. 2004 Jul; 19(7):796-800. View in: PubMed

Dogu O, Johnson J, Hernandez D, Hanson M, Hardy J, Apaydin H, Ozekmekçi S, Sevim S, Gwinn-Hardy K, Singleton A. A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion. Mov Disord. 2004 Jul; 19(7):812-6. View in: PubMed

Johnson J, Ostojic J, Lannfelt L, Glaser A, Basun H, Rogaeva E, Kawarai T, Bruni A, St George Hyslop PH, Goate A, Pastor P, Chakraverty S, Norton J, Morris JC, Hardy J, Singleton A. No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found. Neurosci Lett. 2004 Jun 10; 363(2):99-101. View in: PubMed

Miller DW, Hague SM, Clarimon J, Baptista M, Gwinn-Hardy K, Cookson MR, Singleton AB. Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication. Neurology. 2004 May 25; 62(10):1835-8. View in: PubMed

Singleton A, Gwinn-Hardy K, Sharabi Y, Li ST, Holmes C, Dendi R, Hardy J, Singleton A, Crawley A, Goldstein DS. Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication. Brain. 2004 Apr; 127(Pt 4):768-72. View in: PubMed

Singleton A, Myers A, Hardy J. The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases. Hum Mol Genet. 2004 Apr 1; 13 Spec No 1:R123-6. View in: PubMed

Hague S, Peuralinna T, Eerola J, Hellström O, Tienari PJ, Singleton AB. Confirmation of the protective effect of iNOS in an independent cohort of Parkinson disease. Neurology. 2004 Feb 24; 62(4):635-6. View in: PubMed

Bruno MK, Ravina B, Garraux G, Hallett M, Ptacek L, Singleton A, Johnson J, Singleton A, Hanson M, Considine E, Gwinn-Hardy K. Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease. Mov Disord. 2004 Feb; 19(2):228-30. View in: PubMed

Singleton A, Hague S, Hernandez D. X-linked recessive dystonia parkinsonism (XDP; Lubag; DYT3). Adv Neurol. 2004; 94:139-42. View in: PubMed

Morris CM, O'Brien KK, Gibson AM, Hardy JA, Singleton AB. Polymorphism in the human DJ-1 gene is not associated with sporadic dementia with Lewy bodies or Parkinson's disease. Neurosci Lett. 2003 Dec 4; 352(2):151-3. View in: PubMed

Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K. alpha-Synuclein locus triplication causes Parkinson's disease. Science. 2003 Oct 31; 302(5646):841. View in: PubMed

Eerola J, Hernandez D, Launes J, Hellström O, Hague S, Gulick C, Johnson J, Peuralinna T, Hardy J, Tienari PJ, Singleton AB. Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD. Neurology. 2003 Oct 14; 61(7):1000-2. View in: PubMed

Hernandez D, Hanson M, Singleton A, Gwinn-Hardy K, Freeman J, Ravina B, Doheny D, Gallardo M, Weiser R, Hardy J, Singleton A. Mutation at the SCA17 locus is not a common cause of parkinsonism. Parkinsonism Relat Disord. 2003 Aug; 9(6):317-20. View in: PubMed

Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, Bonifati V, Hardy J, Singleton A. Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol. 2003 Aug; 54(2):271-4. View in: PubMed

Hardy J, Singleton A, Gwinn-Hardy K. Ethnic differences and disease phenotypes. Science. 2003 May 2; 300(5620):739-40. View in: PubMed

Singleton A. Familiality in simple and complex disease. Clin Auton Res. 2003 Apr; 13(2):88-90. View in: PubMed

Payami H, Nutt J, Gancher S, Bird T, McNeal MG, Seltzer WK, Hussey J, Lockhart P, Gwinn-Hardy K, Singleton AA, Singleton AB, Hardy J, Farrer M. SCA2 may present as levodopa-responsive parkinsonism. Mov Disord. 2003 Apr; 18(4):425-9. View in: PubMed

Hardy J, Cookson MR, Singleton A. Genes and parkinsonism. Lancet Neurol. 2003 Apr; 2(4):221-8. View in: PubMed

Evidente VG, Advincula J, Esteban R, Pasco P, Alfon JA, Natividad FF, Cuanang J, Luis AS, Gwinn-Hardy K, Hardy J, Hernandez D, Singleton A. Phenomenology of "Lubag" or X-linked dystonia-parkinsonism. Mov Disord. 2002 Nov; 17(6):1271-7. View in: PubMed

Goudreau JL, Maraganore DM, Farrer MJ, Lesnick TG, Singleton AB, Bower JH, Hardy JA, Rocca WA. Case-control study of dopamine transporter-1, monoamine oxidase-B, and catechol-O-methyl transferase polymorphisms in Parkinson's disease. Mov Disord. 2002 Nov; 17(6):1305-11. View in: PubMed

Subramony SH, Hernandez D, Adam A, Smith-Jefferson S, Hussey J, Gwinn-Hardy K, Lynch T, McDaniel O, Hardy J, Farrer M, Singleton A. Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. Mov Disord. 2002 Sep; 17(5):1068-71. View in: PubMed

O'Farrell C, Hernandez DG, Evey C, Singleton AB, Cookson MR. Normal localization of deltaF323-Y328 mutant torsinA in transfected human cells. Neurosci Lett. 2002 Jul 19; 327(2):75-8. View in: PubMed

Amtul Z, Lewis PA, Piper S, Crook R, Baker M, Findlay K, Singleton A, Hogg M, Younkin L, Younkin SG, Hardy J, Hutton M, Boeve BF, Tang-Wai D, Golde TE. A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch. Neurobiol Dis. 2002 Mar; 9(2):269-73. View in: PubMed

Evidente VG, Gwinn-Hardy K, Hardy J, Hernandez D, Singleton A. X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: a more benign phenotype? Mov Disord. 2002 Jan; 17(1):200-2. View in: PubMed

Singleton AB, Wharton A, O'Brien KK, Walker MP, McKeith IG, Ballard CG, O'Brien J, Perry RH, Ince PG, Edwardson JA, Morris CM. Clinical and neuropathological correlates of apolipoprotein E genotype in dementia with Lewy bodies. Dement Geriatr Cogn Disord. 2002; 14(4):167-75. View in: PubMed

O'Farrell C, Murphy DD, Petrucelli L, Singleton AB, Hussey J, Farrer M, Hardy J, Dickson DW, Cookson MR. Transfected synphilin-1 forms cytoplasmic inclusions in HEK293 cells. Brain Res Mol Brain Res. 2001 Dec 16; 97(1):94-102. View in: PubMed

Maraganore DM, Hernandez DG, Singleton AB, Farrer MJ, McDonnell SK, Hutton ML, Hardy JA, Rocca WA. Case-Control study of the extended tau gene haplotype in Parkinson's disease. Ann Neurol. 2001 Nov; 50(5):658-61. View in: PubMed

Farrer M, Chan P, Chen R, Tan L, Lincoln S, Hernandez D, Forno L, Gwinn-Hardy K, Petrucelli L, Hussey J, Singleton A, Tanner C, Hardy J, Langston JW. Lewy bodies and parkinsonism in families with parkin mutations. Ann Neurol. 2001 Sep; 50(3):293-300. View in: PubMed

West AB, Zimprich A, Lockhart PJ, Farrer M, Singleton A, Holtom B, Lincoln S, Hofer A, Hill L, Müller-Myhsok B, Wszolek ZK, Hardy J, Gasser T. Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. Eur J Hum Genet. 2001 Sep; 9(9):659-66. View in: PubMed

Farrer M, Maraganore DM, Lockhart P, Singleton A, Lesnick TG, de Andrade M, West A, de Silva R, Hardy J, Hernandez D. alpha-Synuclein gene haplotypes are associated with Parkinson's disease. Hum Mol Genet. 2001 Aug 15; 10(17):1847-51. View in: PubMed

Farrer M, Destée A, Levecque C, Singleton A, Engelender S, Becquet E, Mouroux V, Richard F, Defebvre L, Crook R, Hernandez D, Ross CA, Hardy J, Amouyel P, Chartier-Harlin MC. Genetic analysis of synphilin-1 in familial Parkinson's disease. Neurobiol Dis. 2001 Apr; 8(2):317-23. View in: PubMed

Gwinn-Hardy K, Singleton A, O'Suilleabhain P, Boss M, Nicholl D, Adam A, Hussey J, Critchley P, Hardy J, Farrer M. Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family. Arch Neurol. 2001 Feb; 58(2):296-9. View in: PubMed

Singleton AB, Hall R, Ballard CG, Perry RH, Xuereb JH, Rubinsztein DC, Tysoe C, Matthews P, Cordell B, Kumar-Singh S, De Jonghe C, Cruts M, van Broeckhoven C, Morris CM. Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation. Brain. 2000 Dec; 123 Pt 12:2467-74. View in: PubMed

Gwinn-Hardy K, Chen JY, Liu HC, Liu TY, Boss M, Seltzer W, Adam A, Singleton A, Koroshetz W, Waters C, Hardy J, Farrer M. Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology. 2000 Sep 26; 55(6):800-5. View in: PubMed

Hardy J, Singleton A. The future of genetic analysis of neurological disorders. Neurobiol Dis. 2000 Apr; 7(2):65-9. View in: PubMed

Gibson AM, Singleton AB, Smith G, Woodward R, McKeith IG, Perry RH, Ince PG, Ballard CG, Edwardson JA, Morris CM. Lack of association of the alpha2-macroglobulin locus on chromosome 12 in AD. Neurology. 2000 Jan 25; 54(2):433-8. View in: PubMed

De Jonghe C, Cruts M, Rogaeva EA, Tysoe C, Singleton A, Vanderstichele H, Meschino W, Dermaut B, Vanderhoeven I, Backhovens H, Vanmechelen E, Morris CM, Hardy J, Rubinsztein DC, St George-Hyslop PH, Van Broeckhoven C. Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. Hum Mol Genet. 1999 Aug; 8(8):1529-40. View in: PubMed

Brown J, Matutes E, Singleton A, Price C, Molgaard H, Buttle D, Enver T. Lymphopain, a cytotoxic T and natural killer cell-associated cysteine proteinase. Leukemia. 1998 Nov; 12(11):1771-81. View in: PubMed

Thompson J, Thomas N, Singleton A, Piggott M, Lloyd S, Perry EK, Morris CM, Perry RH, Ferrier IN, Court JA. D2 dopamine receptor gene (DRD2) Taq1 A polymorphism: reduced dopamine D2 receptor binding in the human striatum associated with the A1 allele. Pharmacogenetics. 1997 Dec; 7(6):479-84. View in: PubMed

Majounie E, Cross W, Newsway V, Dillman A, Vandrovcova J, Morris CM, Nalls MA, Ferrucci L, Owen MJ, O'Donovan MC, Cookson MR, Singleton AB, de Silva R, Morris HR. Variation in tau isoform expression in different brain regions and disease states. Neurobiol Aging. 2013 Jul; 34(7):1922. e7-1922. e12. View in: PubMed

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