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Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, Sereda MW, Lupski JR, The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.  
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Shannon B, Soto-Ortolaza A, Rayaprolu S, Cannon HD, Labbé C, Benitez BA, Choi J, Lynch T, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Van Gerpen JA, Uitti RJ, Springer W, Cruchaga C, Wszolek ZK, Ross OA, Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease. 
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The Journal of neuroscience : the official journal of the Society for Neuroscience 34:418-33 2014 
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Kim EJ, Kwon JC, Park KH, Park KW, Lee JH, Choi SH, et al, Clinical and genetic analysis of MAPT,GRN, and C9orf72 genes in Korean patients with rontotemporal dementia. 
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Figley MD, Thomas A, Gitler AD, Evaluating noncoding nucleotide repeat expansions in amyotrophic lateral sclerosis. 
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Guo X, Disatnik MH, Monbureau M, Shamloo M, Mochly-Rosen D, Qi X, Inhibition of mitochondrial fragmentation iminishes Huntington's disease-associated neurodegeneration. 
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Vanoye CG, Gurnett CA, Holland KD, George AL, Jr., Kearney JA, Novel SCN3A variants associated with focal epilepsy in children. 
Neurobiology of Disease 62:313-22 2014 
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Human Mutation : 2013 
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Nuytemans K, Bademci G, Kohli MM, Beecham GW, Wang L, Young JI, Nahab F, Martin ER, Gilbert JR, Benatar M, Haines JL, Scott WK, Züchner S, Pericak-Vance MA, Vance JM., C9ORF72 Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease.. 
Annals of Human Genetics 77 (5):351-363 2013 
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Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, Di Paolo G, Walker RH, Shahidi GA, Buxbaum JD, De Camilli P, Yue Z, Paisán-Ruiz C, The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive parkinsonism with generalized seizures. 
Hum Mutat : 2013 
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Harms MB, Cady J, Zaidman C, Cooper P, Bali T, Allred P, Cruchaga C, Baughn M, Libby RT, Pestronk A, Goate A, Ravits J, Baloh RH, Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis. 
Neurobiol Aging 34:2234.e13-9 2013 
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Dombroski BA, Galasko DR, Mata IF, Zabetian CP, Craig UK, Garruto RM, Oyanagi K, Schellenberg GD, C9orf72 hexanucleotide repeat expansion and guam amyotrophic lateral sclerosis-parkinsonism-dementia complex. 
JAMA Neurol 70:742-5 2013 
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Jang JH, Kwon MJ, Choi WJ, Oh KW, Koh SH, Ki CS, Kim SH, Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis. 
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Cooper O, Seo H, Andrabi S, Guardia-Laguarta C, Graziotto J, Sundberg M, McLean JR, Carrillo-Reid L, Xie Z, Osborn T, Hargus G, Deleidi M, Lawson T, Bogetofte H, Perez-Torres E, Clark L, Moskowitz C, Mazzulli J, Chen L, Volpicelli-Daley L, Romero N, Jiang H, Uitti RJ, Huang Z, Opala G, Scarffe LA, Dawson VL, Klein C, Feng J, Ross OA, Trojanowski JQ, Lee VM, Marder K, Surmeier DJ, Wszolek ZK, Przedborski S, Krainc D, Dawson TM, Isacson O, Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease. 
Science translational medicine 4:141ra90 2012 
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Abramzon Y, Johnson JO, Scholz SW, Taylor JP, Brunetti M, Calvo A, Mandrioli J, Benatar M, Mora G, Restagno G, Chiò A, Traynor BJ, Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. 
Neurobiology of aging 33:2231.e1-6 2012 
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Ferrari R, Mok K, Moreno JH, Cosentino S, Goldman J, Pietrini P, Mayeux R, Tierney MC, Kapogiannis D, Jicha GA, Murrell JR, Ghetti B, Wassermann EM, Grafman J, Hardy J, Huey ED, Momeni P, Screening for C9ORF72 repeat expansion in FTLD. 
Neurobiology of aging 33:1850.e1-11 2012 
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Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O, Chromosome 9-ALS/FTD Consortium O, French research network on FTLD/FTLD/ALS O, ITALSGEN Consortium O, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ, Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. 
Lancet neurology 11:323-30 2012 
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Ferrari R, Moreno JH, Minhajuddin AT, O'Bryant SE, Reisch JS, Barber RC, Momeni P, Implication of common and disease specific variants in CLU, CR1, and PICALM. 
Neurobiology of aging 33:1846.e7-18 2011 
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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, ITALSGEN Consortium M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ, A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 
Neuron 72:257-68 2011 
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Devine MJ, Ryten M, Vodicka P, Thomson AJ, Burdon T, Houlden H, Cavaleri F, Nagano M, Drummond NJ, Taanman JW, Schapira AH, Gwinn K, Hardy J, Lewis PA, Kunath T, Parkinson's disease induced pluripotent stem cells with triplication of the a-synuclein locus. 
Nature communications 2:440 2010 
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Lee T, Li YR, Chesi A, Hart MP, Ramos D, Jethava N, Hosangadi D, Epstein J, Hodges B, Bonini NM, Gitler AD, Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis. 
Neurology 76:2062-5 2011 
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Limdi NA, Limdi MA, Cavallari L, Anderson AM, Crowley MR, Baird MF, Allon M, Beasley TM, Warfarin Dosing in Patients With Impaired Kidney Function. 
American Journal of Kidney Diseases 56(5):823-31 2010 
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Ross OA, Wilhoite GJ, Bacon JA, Soto-Ortolaza A, Kachergus J, Cobb SA, Puschmann A, Vilariño-Güell C, Farrer MJ, Graff-Radford N, Meschia JF, Wszolek ZK, LRRK2 variation and Parkinson's disease in African Americans. 
Movement Disorders 25(12):1973-6 2010 
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Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR. , Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. 
American Journal of Human Genetics 86(6):892-903 2010 
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Joyce van de Leemput, PhD,1,2,3 Fabienne Wavrant-De Vrie`ze, BA,1 Ian Rafferty, BA,1 Jose M. Bras, MS,1 Paola Giunti, MD,2 Elizabeth MC Fisher, PhD,3 John A. Hardy, PhD,2 Andrew B. Singleton, PhD,1* and Henry Houlden, MD2, Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series. 
Movement Disorders 25 (6):763-5 2010 
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Cao L, Zheng L, Tang WG, Xiao Q, Zhang T, Tang HD, He SB, Wang XJ, Ding JQ, Chen SD, Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia . 
Movement Disorders 25(6):747-52 2010 
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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. 
Neuroscience Letters 477(1):1-5 2010 
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Lai SL, Abramzon Y, Schymick JC, Stephan DA, Dunckley T, Dillman A, Cookson M, Calvo A, Battistini S, Giannini F, Caponnetto C, Mancardi GL, Spataro R, Monsurro MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Lombardo F; the ITALSGEN Consortium, Mora G, Restagno G, Chiò A, Traynor BJ. , FUS mutations in sporadic amyotrophic lateral sclerosis. 
Neurobiology of Aging 32(3):550.e1-4 2010 
PubMed ID: 20138404 

Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Dev Batish S, Blitzer A, Pfeiffer RF, Gong S, LeDoux MS., Novel THAP1 Sequence Variants in Primary Dystonia. 
Neurology 74:229-38 2010 
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Edwards TL, Scott WK, Almonte C, Burt A, Powell EH, Beecham GW, Wang L, Züchner S, Konidari I, Wang G, Singer C, Nahab F, Scott B, Stajich JM, Pericak-Vance M, Haines J, Vance JM, Martin ER., Genome-Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease. 
Annals of Human Genetics 74(2):97-109 2010 
PubMed ID: 20070850 

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. 
Journal of medical genetics 46:375-81 2009 
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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. 
Human molecular genetics 18:1524-32 2009 
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Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH, Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. 
American journal of human genetics 84:85-8 2008 
PubMed ID: 19118816 

Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML, Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. 
American journal of human genetics 84:44-51 2008 
PubMed ID: 19118815 

Nichols WC, Pankratz N, Marek DK, Pauciulo MW, Elsaesser VE, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T, Parkinson Study Group-PROGENI Investigators T, Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. 
Neurology 72:310-6 2008 
PubMed ID: 18987351 

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. 
Human molecular genetics 18:341-6 2008 
PubMed ID: 18923002 

Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R, Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. 
PLoS genetics 4:e1000193 2008 
PubMed ID: 18802454 

Ross OA, Braithwaite AT, Skipper LM, Kachergus J, Hulihan MM, Middleton FA, Nishioka K, Fuchs J, Gasser T, Maraganore DM, Adler CH, Larvor L, Chartier-Harlin MC, Nilsson C, Langston JW, Gwinn K, Hattori N, Farrer MJ, Genomic investigation of alpha-synuclein multiplication and parkinsonism. 
Annals of neurology 63:743-50 2008 
PubMed ID: 18571778 

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 3:e2450 2008 
PubMed ID: 18545701 

Limdi NA, Arnett DK, Goldstein JA, Beasley TM, McGwin G, Adler BK, Acton RT, Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European-Americans and African-Americans. 
Pharmacogenomics 9:511-26 2008 
PubMed ID: 18466099 

Simón-Sánchez J, Singleton AB, Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. 
Human molecular genetics 17:1988-93 2008 
PubMed ID: 18364387 

Matarin M, Simon-Sanchez J, Fung HC, Scholz S, Gibbs JR, Hernandez DG, Crews C, Britton A, Wavrant De Vrieze F, 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 9:101-8 2007 
PubMed ID: 18288507 

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 neurology 7:207-15 2008 
PubMed ID: 18243799 

Holland KD, Kearney JA, Glauser TA, Buck G, Keddache M, Blankston JR, Glaaser IW, Kass RS, Meisler MH, Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy. 
Neuroscience letters 433:65-70 2007 
PubMed ID: 18242854 

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. 
Human mutation 29:485-490 2008 
PubMed ID: 18213618 

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. 
Movement disorders : official journal of the Movement Disorder Society 23:299-302 2007 
PubMed ID: 18044725 

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. 
Human mutation 29:315-22 2007 
PubMed ID: 17994548 

Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M, Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. 
Lancet neurology 6:857-68 2007 
PubMed ID: 17826340 

Limdi NA, McGwin G, Goldstein JA, Beasley TM, Arnett DK, Adler BK, Baird MF, Acton RT, Influence of CYP2C9 and VKORC1 1173C/T genotype on the risk of hemorrhagic complications in African-American and European-American patients on warfarin. 
Clinical pharmacology and therapeutics 83:312-21 2007 
PubMed ID: 17653141 

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. 
Neuro-degenerative diseases 4:386-91 2007 
PubMed ID: 17622782 

Ziegler SG, Eblan MJ, Gutti U, Hruska KS, Stubblefield BK, Goker-Alpan O, LaMarca ME, Sidransky E, Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. 
Molecular genetics and metabolism 91:195-200 2007 
PubMed ID: 17462935 

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 neurology 6:414-20 2007 
PubMed ID: 17434096 

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 neurology 6:322-8 2007 
PubMed ID: 17362836 

Nichols WC, Marek DK, Pauciulo MW, Pankratz N, Halter CA, Rudolph A, Shults CW, Wojcieszek J, Foroud T, Parkinson Study Group - PROGENI Investigators T, R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation. 
Movement disorders : official journal of the Movement Disorder Society 22:254-7 2006 
PubMed ID: 17149721 

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. 
Human molecular genetics 16:1-14 2006 
PubMed ID: 17116639 

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 neurology 5:911-6 2006 
PubMed ID: 17052657 

Li Y, Rowland C, Schrodi S, Laird W, Tacey K, Ross D, Leong D, Catanese J, Sninsky J, Grupe A, A case-control association study of the 12 single-nucleotide polymorphisms implicated in Parkinson disease by a recent genome scan. 
American journal of human genetics 78:1090-2; author reply 1092-4 2006 
PubMed ID: 16685663 

Pal A, Severin F, Lommer B, Shevchenko A, Zerial M, Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease. 
The Journal of cell biology 172:605-18 2006 
PubMed ID: 16476778 

Jiang H, Jiang Q, Liu W, Feng j, Parkin Suppresses the Expression of Monoamine Oxidases. 
J Biol Chem 281:8591-9 2006 
PubMed ID: 16455660 

Dogu O, Johnson J, Hernandez D, Hanson M, Hardy J, Apaydin H, Ozekmekci S, Sevim S, Gwinn-Hardy k, Singleton A., A consanguineous Turkish family with early-onset Parkinson's disease an exon 4 parkin deletion. 
Mov Disord 19(7):812-6 2004 
PubMed ID: 15254940 

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 302(5646):841 2003 
PubMed ID: 14593171 

Gwinn-Hardy K, Mehta ND, Farrer M, Maraganore D, Muenter M, Yen SH, Hardy J, Dickson DW, Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p.. 
Acta Neuropathol (Berl) 99(6):663-72 2000 
PubMed ID: 10867800 

Farrer M, Gwinn-Hardy K, Muenter M, DeVrieze FW, Crook R, Perez-Tur J, Lincoln S, Maraganore D, Adler C, Newman S, MacElwee K, McCarthy P, Miller C, Waters C, Hardy J, A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor.. 
Hum Mol Genet 8(1):81-5 1999 
PubMed ID: 9887334 

Chua CC, Geiman DE, Ladda RL, Detection of an Mr 200,000 glycoprotein in the culture medium of skin fibroblasts from patients with Huntington disease.. 
Biochem Biophys Res Commun 111:690-9 1983 
PubMed ID: 6220707 

NINDS Subjects Contributed to Repository

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. Neurobiology of aging 33:2527.e1-2 2012   PubMed ID: 22721568  

Alcalay RN, Caccappolo E, Mejia-Santana H, Tang M-, Rosado L, Orbe Reilly M, Ruiz D, Ross B, Verbitsky M, Kisselev S, Louis E, Comella C, Colcher A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Andrews H, Waters C, Fahn S, Cote L, Frucht S, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Siderowf A, Payami H, Molho E, Factor S, Ottman R, Clark LN, Marder K, Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study. 
Neurology 78:1434-40 2012 
PubMed ID: 22442429 

Klassen T, Davis C, Goldman A, Burgess D, Chen T, Wheeler D, McPherson J, Bourquin T, Lewis L, Villasana D, Morgan M, Muzny D, Gibbs R, Noebels J, Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. 
Cell 145:1036-48 2011 
PubMed ID: 21703448 

Lisabeth LD, Morgenstern LB, Burke DT, Sun YV, Long JC, Ancestral heterogeneity in a biethnic stroke population. 
Annals of human genetics 75:508-15 2011 
PubMed ID: 21668907 

Alcalay RN, Siderowf A, Ottman R, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Louis E, Ruiz D, Waters C, Fahn S, Cote L, Frucht S, Ford B, Orbe-Reilly M, Ross B, Verbitsky M, Kisselev S, Comella C, Colcher A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Rezak M, Novak KE, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Clark LN, Marder K, Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study. 
Neurology 76:319-26 2010 
PubMed ID: 21205674 

Shoulson, Ira, Therapeutic Directions for Parkinson’s Disease. 
Movement Disorders 25:S152-S154 2010 
PubMed ID: 20187232 

Alcalay RN, Mejia-Santana H, Tang MX, Rosado L, Verbitsky M, Kisselev S, Ross BM, Louis ED, Comella CL, Colcher A, Jennings D, Nance MA, Bressman S, Scott WK, Tanner C, Mickel SF, Andrews HF, Waters CH, Fahn S, Cote LJ, Frucht SJ, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Siderowf A, Caccappolo E, Ottman R, Clark LN, Marder KS., Motor Phenotype of LRRK2 G2019S Carriers in Early-Onset Parkinson Disease. 
Archives of Neurology 66:12:1517-22 2009 
PubMed ID: 20008657

Ross OA, Heckman MG, Soto AI, Diehl NN, Haugarvoll K, Vilariño-Güell C, Aasly JO, Sando S, Gibson JM, Lynch T, Krygowska-Wajs A, Opala G, Barcikowska M, Czyzewski K, Uitti RJ, Wszolek ZK, Farrer MJ, Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease. 
Parkinsonism & related disorders 14:544-7 2008 
PubMed ID: 18722802 

Landers JE, Shi L, Cho TJ, Glass JD, Shaw CE, Leigh PN, Diekstra F, Polak M, Rodriguez-Leyva I, Niemann S, Traynor BJ, McKenna-Yasek D, Sapp PC, Al-Chalabi A, Wills AM, Brown RH, A common haplotype within the PON1 promoter region is associated with sporadic ALS. 
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 9:306-14 2008 
PubMed ID: 18618303 

Shinnar S, Hesdorffer DC, Nordli DR, Pellock JM, O'Dell C, Lewis DV, Frank LM, Moshé SL, Epstein LG, Marmarou A, Bagiella E, FEBSTAT Study Team E, Phenomenology of prolonged febrile seizures: results of the FEBSTAT study. 
Neurology 71:170-6 2008 
PubMed ID: 18525033 

Wang Y, Clark LN, Louis ED, Mejia-Santana H, Harris J, Cote LJ, Waters C, Andrews H, Ford B, Frucht S, Fahn S, Ottman R, Rabinowitz D, Marder K, Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method. 
Archives of neurology 65:467-74 2008 
PubMed ID: 18413468 

Foroud T, Sauerbeck L, Brown R, Anderson C, Woo D, Kleindorfer D, Flaherty ML, Deka R, Hornung R, Meissner I, Bailey-Wilson JE, Rouleau G, Connolly ES, Lai D, Koller DL, Huston J, Broderick JP, FIA Study Investigators JP, Genome screen to detect linkage to intracranial aneurysm susceptibility genes: the Familial Intracranial Aneurysm (FIA) study. 
Stroke; a journal of cerebral circulation 39:1434-40 2008 
PubMed ID: 18323491 

Leslie-Mazwi TM, Brott TG, Brown RD, Worrall BB, Silliman SL, Case LD, Frankel MR, Rich SS, Meschia JF, Sex differences in stroke evaluations in the Ischemic Stroke Genetics Study. 
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 16:187-93 2006 
PubMed ID: 17845914 

Matarin M, Brown WM, Hardy JA, Rich SS, Singleton AB, Brown RD, Brott TG, Worrall BB, Meschia JF, SWISS Study Group JF, ISGS Study Group JF, MSGD Study Group JF, Association of integrin alpha2 gene variants with ischemic stroke. 
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 28:81-9 2007 
PubMed ID: 17534386 

Worrall BB, Brott TG, Brown RD, Brown WM, Rich SS, Arepalli S, Wavrant-De Vrièze F, Duckworth J, Singleton AB, Hardy J, Meschia JF, SWISS, ISGS, and MSGD Investigators JF, IL1RN VNTR polymorphism in ischemic stroke: analysis in 3 populations. 
Stroke; a journal of cerebral circulation 38:1189-96 2007 
PubMed ID: 17332449 

Kaufmann P, Mitsumoto H, ALSRG Database Task Force Steering Committee H, ALSRG Members H, ALS Research Group H, ALS Research Group (ALSRG): second meeting, a summary report. 
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 7:252-5 2006 
PubMed ID: 17127566 

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. 
European journal of neurology : the official journal of the European Federation of Neurological Societies 13:1298-301 2006 
PubMed ID: 17116211 

Haugarvoll K, Uitti RJ, Farrer MJ, Wszolek ZK, LRRK2 gene and tremor-dominant parkinsonism. 
Archives of neurology 63:1346-7 2006 
PubMed ID: 16966525 

Momeni P, Rogaeva E, Van Deerlin V, Yuan W, Grafman J, Tierney M, Huey E, Bell J, Morris CM, Kalaria RN, van Rensburg SJ, Niehaus D, Potocnik F, Kawarai T, Salehi-Rad S, Sato C, St George-Hyslop P, Hardy J, Genetic variability in CHMP2B and frontotemporal dementia. 
Neuro-degenerative diseases 3:129-33 2006 
PubMed ID: 16954699 

Limdi NA, Beasley TM, Allison DB, Rivers CA, Acton RT, Racial differences in the prevalence of Factor V Leiden mutation among patients on chronic warfarin therapy. 
Blood cells, molecules & diseases 37:100-6 2006 
PubMed ID: 16889993 

Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF, Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. 
Archives of neurology 63:826-32 2006 
PubMed ID: 16769863 

Zaroff JG, Pawlikowska L, Miss JC, Yarlagadda S, Ha C, Achrol A, Kwok PY, McCulloch CE, Lawton MT, Ko N, Smith W, Young WL, Adrenoceptor polymorphisms and the risk of cardiac injury and dysfunction after subarachnoid hemorrhage. 
Stroke; a journal of cerebral circulation 37:1680-5 2006 
PubMed ID: 16728691 

Farrer MJ, Haugarvoll K, Ross OA, Stone JT, Milkovic NM, Cobb SA, Whittle AJ, Lincoln SJ, Hulihan MM, Heckman MG, White LR, Aasly JO, Gibson JM, Gosal D, Lynch T, Wszolek ZK, Uitti RJ, Toft M, Genomewide association, Parkinson disease, and PARK10. 
American journal of human genetics 78:1084-8; author reply 1092-4 2006 
PubMed ID: 16685661 

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. 
American journal of human genetics 78:1082-4; author reply 1092-4 2006 
PubMed ID: 16685660 

Pawlikowska L, Poon KY, Achrol AS, McCulloch CE, Ha C, Lum K, Zaroff JG, Ko NU, Johnston SC, Sidney S, Marchuk DA, Lawton MT, Kwok PY, Young WL, Apolipoprotein E epsilon 2 is associated with new hemorrhage risk in brain arteriovenous malformations. 
Neurosurgery 58:838-43; discussion 838-43 2006 
PubMed ID: 16639317 

Clark LN, Afridi S, Karlins E, Wang Y, Mejia-Santana H, Harris J, Louis ED, Cote LJ, Andrews H, Fahn S, Waters C, Ford B, Frucht S, Ottman R, Marder K, Case-control study of the parkin gene in early-onset Parkinson disease. 
Archives of neurology 63:548-52 2006 
PubMed ID: 16606767 

Meschia JF, Kissela BM, Brott TG, Brown RD, Worrall BB, Beck J, Skarp AN, The Siblings With Ischemic Stroke Study (SWISS): a progress report. 
Clinical medicine & research 4:12-21 2006 
PubMed ID: 16595789 

Woo D, Sekar P, Chakraborty R, Haverbusch MA, Flaherty ML, Kissela BM, Kleindorfer D, Schneider A, Khoury J, Sauerbeck LR, Deka R, Broderick JP, Genetic Epidemiology of Intracerebral Hemorrhage. 
J Stroke Cerebrovasc Dis 14:239-243 2005 
PubMed ID: 16557295 

Woo D, Kaushal R, Kissela B, Sekar P, Wolujewicz M, Pal P, Alwell K, Haverbusch M, Ewing I, Miller R, Kleindorfer D, Flaherty M, Chakraborty R, Deka R, Broderick J, Association of Phosphodiesterase 4D with ischemic stroke: a population-based case-control study. 
Stroke; a journal of cerebral circulation 37:371-6 2006 
PubMed ID: 16373644 

Achrol AS, Pawlikowska L, McCulloch CE, Poon KY, Ha C, Zaroff JG, Johnston SC, Lee C, Lawton MT, Sidney S, Marchuk DA, Kwok PY, Young WL, UCSF BAVM Study Project WL, Tumor necrosis factor-alpha-238G>A promoter polymorphism is associated with increased risk of new hemorrhage in the natural course of patients with brain arteriovenous malformations. 
Stroke; a journal of cerebral circulation 37:231-4 2005 
PubMed ID: 16322490 

Chen Y, Pawlikowska L, Yao JS, Shen F, Zhai W, Achrol AS, Lawton MT, Kwok PY, Yang GY, Young WL, Interleukin-6 involvement in brain arteriovenous malformations. 
Annals of neurology 59:72-80 2006 
PubMed ID: 16278864 

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. 
Neuroscience letters 394:33-6 2006 
PubMed ID: 16257123 

Pawlikowska L, Tran MN, Achrol AS, Ha C, Burchard E, Choudhry S, Zaroff J, Lawton MT, Castro R, McCulloch CE, Marchuk D, Kwok PY, Young WL, UCSF BAVM Study Project WL, Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. 
Stroke; a journal of cerebral circulation 36:2278-80 2005 
PubMed ID: 16179574 

Mata IF, Kachergus JM, Taylor JP, Lincoln S, Aasly J, Lynch T, Hulihan MM, Cobb SA, Wu RM, Lu CS, Lahoz C, Wszolek ZK, Farrer MJ, Lrrk2 pathogenic substitutions in Parkinson's disease. 
Neurogenetics 6:171-7 2005 
PubMed ID: 16172858 

Foroud T, LRRK2: both a cause and a risk factor for Parkinson disease?. 
Neurology 65:664-5 2005 
PubMed ID: 16157895 

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, SWISS Study Group J, ISGS Study Group J, MSGD Study Group J, Phosphodiesterase 4D and 5-lipoxygenase activating protein in ischemic stroke. 
Annals of neurology 58:351-61 2005 
PubMed ID: 16130105 

Pankratz N, Byder L, Halter C, Rudolph A, Shults CW, Conneally PM, Foroud T, Nichols WC, Presence of an APOE4 allele results in significantly earlier onset of Parkinson's disease and a higher risk with dementia. 
Movement disorders : official journal of the Movement Disorder Society 21:45-9 2005 
PubMed ID: 16116614 

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. 
Neuroscience letters 389:137-9 2005 
PubMed ID: 16102903 

Howard TD, Giles WH, Xu J, Wozniak MA, Malarcher AM, Lange LA, Macko RF, Basehore MJ, Meyers DA, Cole JW, Kittner SJ, Promoter polymorphisms in the nitric oxide synthase 3 gene are associated with ischemic stroke susceptibility in young black women. 
Stroke; a journal of cerebral circulation 36:1848-51 2005 
PubMed ID: 16100023 

Woo D, Kaushal R, Chakraborty R, Woo J, Haverbusch M, Sekar P, Kissela B, Pancioli A, Jauch E, Kleindorfer D, Flaherty M, Schneider A, Khatri P, Sauerbeck L, Khoury J, Deka R, Broderick J, Association of apolipoprotein E4 and haplotypes of the apolipoprotein E gene with lobar intracerebral hemorrhage. 
Stroke; a journal of cerebral circulation 36:1874-9 2005 
PubMed ID: 16100021 

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. 
Neurobiology of disease 21:102-9 2006 
PubMed ID: 16084104 

Adams JR, van Netten H, Schulzer M, Mak E, Mckenzie J, Strongosky A, Sossi V, Ruth TJ, Lee CS, Farrer M, Gasser T, Uitti RJ, Calne DB, Wszolek ZK, Stoessl AJ, PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation. 
Brain : a journal of neurology 128:2777-85 2005 
PubMed ID: 16081470 

Cronin S, Furie KL, Kelly PJ, Dose-related association of MTHFR 677T allele with risk of ischemic stroke: evidence from a cumulative meta-analysis. 
Stroke; a journal of cerebral circulation 36:1581-7 2005 
PubMed ID: 15947278 

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. 
American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 136:72-4 2005 
PubMed ID: 15924299 

Broderick JP, Sauerbeck LR, Foroud T, Huston J, Pankratz N, Meissner I, Brown RD, The Familial Intracranial Aneurysm (FIA) study protocol. 
BMC medical genetics 6:17 2005 
PubMed ID: 15854227 

Dlugos DJ, Scattergood TM, Ferraro TN, Berrettinni WH, Buono RJ, Recruitment rates and fear of phlebotomy in pediatric patients in a genetic study of epilepsy. 
Epilepsy & behavior 6:444-6 2005 
PubMed ID: 15820358 

Kachergus J, Mata IF, Hulihan M, Taylor JP, Lincoln S, Aasly J, Gibson JM, Ross OA, Lynch T, Wiley J, Payami H, Nutt J, Maraganore DM, Czyzewski K, Styczynska M, Wszolek ZK, Farrer MJ, Toft M, Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. 
American journal of human genetics 76:672-80 2004 
PubMed ID: 15726496 

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, Parkinson Study Group-PROGENI investigators T, Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. 
Lancet 365:410-2 2005 
PubMed ID: 15680455 

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. 
Neuroscience letters 374:189-91 2005 
PubMed ID: 15663960 

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. 
American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 133:120-3 2005 
PubMed ID: 15635662 

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. 
Archives of neurology 61:1898-904 2004 
PubMed ID: 15596610 

Meschia JF, Worrall BB, New advances in identifying genetic anomalies in stroke-prone probands. 
Current neurology and neuroscience reports 4:420-6 2004 
PubMed ID: 15324609 

Walz R, Castro RM, Landemberger MC, Velasco TR, Terra-Bustamante VC, Bastos AC, Bianchin M, Wichert-Ana L, Araújo D, Alexandre V, Santos AC, Machado HR, Carlotti CG, Brentani RR, Martins VR, Sakamoto AC, Cortical malformations are associated with a rare polymorphism of cellular prion protein. 
Neurology 63:557-60 2004 
PubMed ID: 15304595 

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 63:554-6 2004 
PubMed ID: 15304594 

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 : a journal of neurology 127:768-72 2004 
PubMed ID: 14736756 

El-Agnaf OM, Salem SA, Paleologou KE, Cooper LJ, Fullwood NJ, Gibson MJ, Curran MD, Court JA, Mann DM, Ikeda S, Cookson MR, Hardy J, Allsop D, Alpha-synuclein implicated in Parkinson's disease is present in extracellular biological fluids, including human plasma. 
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 17:1945-7 2003 
PubMed ID: 14519670 

Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD, ITALSGEN JD, Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ, Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. 
Nature neuroscience 17:664-6 2013 
PubMed ID: 24686783 

Cady J, Koval ED, Benitez BA, Zaidman C, Jockel-Balsarotti J, Allred P, Baloh RH, Ravits J, Simpson E, Appel SH, Pestronk A, Goate AM, Miller TM, Cruchaga C, Harms MB, TREM2 Variant pR47H as a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis. 
JAMA neurology 71:449-53 2014 
PubMed ID: 24535663 

Yager JR, Gasparovic C, Magnotta VA, Adams W, Fiedorowicz J, Paulsen J, Jorge R, Beglinger LJ, Preliminary study of the association of white-matter metabolite concentrations with disease severity in patients with Huntington's disease. 
The Journal of neuropsychiatry and clinical neurosciences 26:101-4 2014 
PubMed ID: 24515683 

van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R, TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. 
Acta neuropathologica 127:397-406 2013 
PubMed ID: 24385136 

Renton AE, Chio A, Traynor BJ, State of play in amyotrophic lateral sclerosis genetics. 
Nature Neuroscience 17(1):17-23 2014 
PubMed ID: 24369373 

Lewis DV, Shinnar S, Hesdorffer DC, Bagiella E, Bello JA, Chan S, Xu Y, MacFall J, Gomes WA, Moshé SL, Mathern GW, Pellock JM, Nordli DR, Frank LM, Provenzale J, Shinnar RC, Epstein LG, Masur D, Litherland C, Sun S, FEBSTAT Study Team S, Hippocampal sclerosis after febrile status epilepticus: the FEBSTAT study. 
Annals of neurology 75:178-85 2013 
PubMed ID: 24318290 

Dichgans M, Malik R, König IR, Rosand J, Clarke R, Gretarsdottir S, Thorleifsson G, Mitchell BD, Assimes TL, Levi C, O'Donnell CJ, Fornage M, Thorsteinsdottir U, Psaty BM, Hengstenberg C, Seshadri S, Erdmann J, Bis JC, Peters A, Boncoraglio GB, März W, Meschia JF, Kathiresan S, Ikram MA, McPherson R, Stefansson K, Sudlow C, Reilly MP, Thompson JR, Sharma P, Hopewell JC, Chambers JC, Watkins H, Rothwell PM, Roberts R, Markus HS, Samani NJ, Farrall M, Schunkert H, Gschwendtner A, Bevan S, Chen YC, DeStefano AL, Parati EA, Quertermous T, Ziegler A, Boerwinkle E, Holm H, Fischer M, Kessler T, Willenborg C, Laaksonen R, Voight BF, Stewart AF, Rader DJ, Hall AS, Kooner JS, METASTROKE Consortium JS, CARDIoGRAM consortium JS, C4D consortium JS, International Stroke Genetics Consortium JS, Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 
Stroke; a journal of cerebral circulation 45:24-36 2013 
PubMed ID: 24262325 

Alcalay RN, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Orbe Reilly M, Ruiz D, Louis ED, Comella CL, Nance MA, Bressman SB, Scott WK, Tanner CM, Mickel SF, Waters CH, Fahn S, Cote LJ, Frucht SJ, Ford B, Rezak M, Novak KE, Friedman JH, Pfeiffer RF, Marsh L, Hiner B, Payami H, Molho E, Factor SA, Nutt JG, Serrano C, Arroyo M, Ottman R, Pauciulo MW, Nichols WC, Clark LN, Marder KS, Cognitive and motor function in long-duration PARKIN-associated Parkinson disease. 
JAMA neurology 71:62-7 2013 
PubMed ID: 24190026 

Wan JY, Edwards KL, Hutter CM, Mata IF, Samii A, Roberts JW, et al, Association mapping of the PARK10 region for Parkinson's disease susceptibility genes. 
Parkinsonism Related Disorders 13:00355-6 2013 
PubMed ID: 24156912 

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 8:e75035 2013 
PubMed ID: 24086431 

Nalls MA, Saad M, Noyce AJ, Keller MF, Schrag A, Bestwick JP, Traynor BJ, Gibbs JR, Hernandez DG, Cookson MR, Morris HR, Williams N, Gasser T, Heutink P, Wood N, Hardy J, Martinez M, Singleton AB; for the International Parkinson's Disease Genomics Consortium (IPDGC); The Wellcome Trust Case Control Consortium 2 (WTCCC2); North American Brain Expression Consortium (NABEC); the United Kingdom Brain Expression Consortium (UKBEC)., Genetic comorbidities in Parkinson's disease.. 
Human Molecular Genetics : 2013 
PubMed ID: 24057672 

Hudson G, Nalls M, Evans JR, Breen DP, Winder-Rhodes S, Morrison KE, Morris HR, Williams-Gray CH, Barker RA, Singleton AB, Hardy J, Wood NE, Burn DJ, Chinnery PF, Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease. 
Neurology 80:202-2048 2013 
PubMed ID: 23645593 

Hesdorffer DC, Shinnar S, Lewis DV, Moshé SL, Nordli DR, Pellock JM, Macfall J, Shinnar RC, Masur D, Frank LM, Epstein LG, Litherland C, Seinfeld S, Bello JA, Chan S, Bagiella E, Sun S, the FEBSTAT study team S, Design and phenomenology of the FEBSTAT study. 
Epilepsia 53(9):1471-1480 2012 
PubMed ID: 22742587 

Nesbitt G, McKenna K, Mays V, Carpenter A, Miller K, Williams M, The EPGP Investigators, The Epilepsy Phenome/Genome Project (EPGP) informatics platform. 
International journal of medical informatics : 2012 
PubMed ID: 22579394 

Wolf SM, Crock BN, Van Ness B, Lawrenz F, Kahn JP, Beskow LM, Cho MK, Christman MF, Green RC, Hall R, Illes J, Keane M, Knoppers BM, Koenig BA, Kohane IS, Leroy B, Maschke KJ, McGeveran W, Ossorio P, Parker LS, Petersen GM, Richardson HS, Scott JA, Terry SF, Wilfond BS, Wolf WA, Managing incidental findings and research results in genomic research involving biobanks and archived data sets. 
Genetics in medicine : official journal of the American College of Medical Genetics 14:361-84 2012 
PubMed ID: 22436882 

Shriner D, Vaughan LK, A unified framework for multi-locus association analysis of both common and rare variants. 
BMC genomics 12:89 2010 
PubMed ID: 21281506 

Cundiff PE, Anderson SA, Impact of induced pluripotent stem cells on the study of central nervous system disease. 
Current opinion in genetics & development 21(3):354-61 2011 
PubMed ID: 21277194 

Chen DT, Case LD, Brott TG, Brown RD, Silliman SL, Meschia JF, Worrall BB, ISGS Investigators BB, Impact of restricting enrollment in stroke genetics research to adults able to provide informed consent. 
Stroke; a journal of cerebral circulation 39:831-7 2008 
PubMed ID: 18258838 

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, for The ALS Research Group MA, Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. 
PLoS ONE 2:e1254 2007 
PubMed ID: 18060051 

Schymick JC, Talbot K, Traynor BJ, Genetics of sporadic amyotrophic lateral sclerosis. 
Human molecular genetics 16 Spec No. 2:R233-42 2007 
PubMed ID: 17911166 

Ross OA, Worrall BB, Meschia JF, Advancing stroke therapeutics through genetic understanding. 
Current drug targets 8:850-9 2007 
PubMed ID: 17630939 

Rotimi C, Leppert M, Matsuda I, Zeng C, Zhang H, Adebamowo C, Ajayi I, Aniagwu T, Dixon M, Fukushima Y, Macer D, Marshall P, Nkwodimmah C, Peiffer A, Royal C, Suda E, Zhao H, Wang VO, McEwen J, International HapMap Consortium J, Community engagement and informed consent in the International HapMap project. 
Community genetics 10:186-98 2007 
PubMed ID: 17575464 

[no authors listed], Biomarkers to improve cancer detection. 
Q Links - Pharmacogenomics 7(7):965-967 2006 
PubMed ID:  

Benjamin Neale, Manuel Ferreira, Sarah Medland and Danielle Posthuma, Statistical Genetics: Gene Mapping Through Linkage and Association. 
Statistical Genetics (ISBN-13: 9780415410403) :608 2007 
PubMed ID:  

J C Schymick, Y Yang, P M Andersen, J P Vonsattel, M Greenway, P Momeni, J Elder, A Chio, G Restagno, W Robberecht, C Dahlberg, O Mukherjee, A Goate, N Graff-Radford, R J Caselli, M Hutton, J Gass, A Cannon, R Rademakers, A B Singleton, O Hardiman, J Rothstein, J Hardy, B J Traynor, Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis–frontotemporal dementia phenotypes. 
British Medical Journal : 2007 
PubMed ID:  17371905

Keller MA, Gwinn K, Nash J, Horsford J, Zhang R, Rich SS, Corriveau RA, Whole genome association studies of neuropsychiatric disease: An emerging era of collaborative genetic discovery. 
Neuropsychatric Disease and Treatment 3(5):613-618 2007 
PubMed ID:  19300590

Rita J. Guerreiro, Jennifer C. Schymick, Cynthia Crews, Andrew Singleton, John Hardy, and Bryan J. Traynor, TDP-43 Is Not a Common Cause of Sporadic Amyotrophic Lateral Sclerosis. 
PLoS ONE 3(6): 2008 
PubMed ID:  18545701

Shaw, Gina, Innovative Collaboration to Create an ALS Bank.. 
Neurology 6(4):5-6 2006 
PubMed ID:  

Sonja W. Scholz, Georgia Xiromerisiou, Hon C. Fung, Johanna Eerola, Olli Hellström, Alexandros Papadimitriou, Georgios M. Hadjigeorgiou, Pentti J. Tienari, Hubert H. Fernandez, Ronald Mandel, Michael S. Okun, Katharina Gwinn-Hardy and Andrew B. Singleton, The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations. 
PubMed ID:  16298483

Z . Khachaturian, A chapter in the development of Alzheimer’s disease research: A case study of public policies on the development and funding of research programs.. 
Alzheimer's and Dementia 3:243-258 2008 
PubMed ID:  19595945