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Page 1
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, and the International Parkinson’s Disease Genomics Consortium (IPDGC). Blauwendraat C, et al. Among authors: brooks j. JAMA Neurol. 2018 Nov 1;75(11):1416-1422. doi: 10.1001/jamaneurol.2018.1885. JAMA Neurol. 2018. PMID: 30039155 Free PMC article.
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
Blauwendraat C, Kia DA, Pihlstrøm L, Gan-Or Z, Lesage S, Gibbs JR, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Chung SJ, Goldwurm S, Toft M, Schulte C; International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium; Hernandez D, Singleton AB, Nalls MA, Brice A, Scholz SW, Wood NW. Blauwendraat C, et al. Among authors: brooks j. Neurobiol Aging. 2018 Apr;64:159.e5-159.e8. doi: 10.1016/j.neurobiolaging.2017.12.012. Epub 2017 Dec 20. Neurobiol Aging. 2018. PMID: 29398121 Free PMC article.
The Parkinson's Disease DNA Variant Browser.
Kim JJ, Makarious MB, Bandres-Ciga S, Gibbs JR, Ding J, Hernandez DG, Brooks J, Grenn FP, Iwaki H, Singleton AB, Nalls MA, Blauwendraat C; International Parkinson's Disease Genomics Consortium (IPDGC). Kim JJ, et al. Among authors: brooks j. Mov Disord. 2021 May;36(5):1250-1258. doi: 10.1002/mds.28488. Epub 2021 Jan 26. Mov Disord. 2021. PMID: 33497488 Free PMC article.
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.
Zhu W, Huang X, Yoon E, Bandres-Ciga S, Blauwendraat C, Billingsley KJ, Cade JH, Wu BP, Williams VH, Schindler AB, Brooks J, Gibbs JR, Hernandez DG, Ehrlich D, Singleton AB, Narendra DP. Zhu W, et al. Among authors: brooks j. Brain. 2022 Jun 30;145(6):2077-2091. doi: 10.1093/brain/awab456. Brain. 2022. PMID: 35640906 Free PMC article.
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.
Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, Lesage S, Lorenz D, Deuschl G, Durif F, Pollak P, Damier P, Tison F, Durr A, Amouyel P, Lambert JC, Tzourio C, Maubaret C, Charbonnier-Beaupel F, Tahiri K, Vidailhet M, Martinez M, Brice A, Corvol JC; French Parkinson's Disease Genetics Study Group; International Parkinson's Disease Genomics Consortium (IPDGC). Klebe S, et al. J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):666-73. doi: 10.1136/jnnp-2012-304475. Epub 2013 Feb 13. J Neurol Neurosurg Psychiatry. 2013. PMID: 23408064 Free PMC article.
Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk.
Moskvina V, Harold D, Russo G, Vedernikov A, Sharma M, Saad M, Holmans P, Bras JM, Bettella F, Keller MF, Nicolaou N, Simón-Sánchez J, Gibbs JR, Schulte C, Durr A, Guerreiro R, Hernandez D, Brice A, Stefánsson H, Majamaa K, Gasser T, Heutink P, Wood N, Martinez M, Singleton AB, Nalls MA, Hardy J, Owen MJ, O'Donovan MC, Williams J, Morris HR, Williams NM; IPDGC and GERAD Investigators. Moskvina V, et al. JAMA Neurol. 2013 Oct;70(10):1268-76. doi: 10.1001/jamaneurol.2013.448. JAMA Neurol. 2013. PMID: 23921447 Free PMC article.
Genetic comorbidities in Parkinson's disease.
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; International Parkinson's Disease Genomics Consortium (IPDGC); Wellcome Trust Case Control Consortium 2 (WTCCC2); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC). Nalls MA, et al. Hum Mol Genet. 2014 Feb 1;23(3):831-41. doi: 10.1093/hmg/ddt465. Epub 2013 Sep 20. Hum Mol Genet. 2014. PMID: 24057672 Free PMC article.
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease.
Beilina A, Rudenko IN, Kaganovich A, Civiero L, Chau H, Kalia SK, Kalia LV, Lobbestael E, Chia R, Ndukwe K, Ding J, Nalls MA; International Parkinson’s Disease Genomics Consortium; North American Brain Expression Consortium; Olszewski M, Hauser DN, Kumaran R, Lozano AM, Baekelandt V, Greene LE, Taymans JM, Greggio E, Cookson MR. Beilina A, et al. Proc Natl Acad Sci U S A. 2014 Feb 18;111(7):2626-31. doi: 10.1073/pnas.1318306111. Epub 2014 Feb 7. Proc Natl Acad Sci U S A. 2014. PMID: 24510904 Free PMC article.
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group; Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Nalls MA, et al. Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. Epub 2014 Jul 27. Nat Genet. 2014. PMID: 25064009 Free PMC article.
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, Lubbe SJ, Drouet V, Lesage S, Majounie E, Gibbs JR, Nalls MA, Ryten M, Botia JA, Vandrovcova J, Simon-Sanchez J, Castillo-Lizardo M, Rizzu P, Blauwendraat C, Chouhan AK, Li Y, Yogi P, Amin N, van Duijn CM; International Parkinson’s Disease Genetics Consortium (IPGDC); Morris HR, Brice A, Singleton AB, David DC, Nollen EA, Jain S, Shulman JM, Heutink P. Jansen IE, et al. Genome Biol. 2017 Jan 30;18(1):22. doi: 10.1186/s13059-017-1147-9. Genome Biol. 2017. PMID: 28137300 Free PMC article.
3,816 results