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129 results

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Page 1
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: goldwurm s. 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.
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: goldwurm s. JAMA Neurol. 2018 Nov 1;75(11):1416-1422. doi: 10.1001/jamaneurol.2018.1885. JAMA Neurol. 2018. PMID: 30039155 Free PMC article.
Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants.
Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, Auburger G, Bacon JA, Boczarska-Jedynak M, Bozi M, Brighina L, Chartier-Harlin MC, Dardiotis E, Destée A, Ferrarese C, Ferraris A, Fiske B, Gispert S, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lin CH, Lohmann K, Loriot MA, Lynch T, Mellick GD, Mutez E, Opala G, Park SS, Petrucci S, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Tomiyama H, Uitti RJ, Valente EM, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Xiromerisiou G, Maraganore DM, Farrer MJ, Ross OA; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. Heckman MG, et al. Neurobiol Aging. 2014 Jan;35(1):266.e5-14. doi: 10.1016/j.neurobiolaging.2013.07.013. Epub 2013 Aug 17. Neurobiol Aging. 2014. PMID: 23962496 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.
SNCA variants are associated with increased risk for multiple system atrophy.
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. Scholz SW, et al. Among authors: goldwurm s. Ann Neurol. 2009 May;65(5):610-4. doi: 10.1002/ana.21685. Ann Neurol. 2009. PMID: 19475667 Free PMC article.
Alpha-synuclein repeat variants and survival in Parkinson's disease.
Chung SJ, Biernacka JM, Armasu SM, Anderson K, Frigerio R, Aasly JO, Annesi G, Bentivoglio AR, Brighina L, Chartier-Harlin MC, Goldwurm S, Hadjigeorgiou G, Jasinska-Myga B, Jeon BS, Kim YJ, Krüger R, Lesage S, Markopoulou K, Mellick G, Morrison KE, Puschmann A, Tan EK, Crosiers D, Theuns J, Van Broeckhoven C, Wirdefeldt K, Wszolek ZK, Elbaz A, Maraganore DM; Genetic Epidemiology of Parkinson's Disease Consortium. Chung SJ, et al. Among authors: goldwurm s. Mov Disord. 2014 Jul;29(8):1053-7. doi: 10.1002/mds.25841. Epub 2014 Feb 27. Mov Disord. 2014. PMID: 24578302 Free PMC article.
Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.
Lai D, Alipanahi B, Fontanillas P, Schwantes-An TH, Aasly J, Alcalay RN, Beecham GW, Berg D, Bressman S, Brice A, Brockman K, Clark L, Cookson M, Das S, Van Deerlin V, Follett J, Farrer MJ, Trinh J, Gasser T, Goldwurm S, Gustavsson E, Klein C, Lang AE, Langston JW, Latourelle J, Lynch T, Marder K, Marras C, Martin ER, McLean CY, Mejia-Santana H, Molho E, Myers RH, Nuytemans K, Ozelius L, Payami H, Raymond D, Rogaeva E, Rogers MP, Ross OA, Samii A, Saunders-Pullman R, Schüle B, Schulte C, Scott WK, Tanner C, Tolosa E, Tomkins JE, Vilas D, Trojanowski JQ; 23andMe Research Team; Uitti R, Vance JM, Visanji NP, Wszolek ZK, Zabetian CP, Mirelman A, Giladi N, Orr Urtreger A, Cannon P, Fiske B, Foroud T. Lai D, et al. Among authors: goldwurm s. Ann Neurol. 2021 Jul;90(1):76-88. doi: 10.1002/ana.26094. Epub 2021 May 17. Ann Neurol. 2021. PMID: 33938021 Free PMC article.
Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry.
Lee AJ, Wang Y, Alcalay RN, Mejia-Santana H, Saunders-Pullman R, Bressman S, Corvol JC, Brice A, Lesage S, Mangone G, Tolosa E, Pont-Sunyer C, Vilas D, Schüle B, Kausar F, Foroud T, Berg D, Brockmann K, Goldwurm S, Siri C, Asselta R, Ruiz-Martinez J, Mondragón E, Marras C, Ghate T, Giladi N, Mirelman A, Marder K; Michael J. Fox LRRK2 Cohort Consortium. Lee AJ, et al. Among authors: goldwurm s. Mov Disord. 2017 Oct;32(10):1432-1438. doi: 10.1002/mds.27059. Epub 2017 Jun 22. Mov Disord. 2017. PMID: 28639421 Free PMC article.
NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases.
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; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Disease meta-analysis consortium. Nalls MA, et al. Neurobiol Aging. 2015 Mar;36(3):1605.e7-12. doi: 10.1016/j.neurobiolaging.2014.07.028. Epub 2014 Aug 4. Neurobiol Aging. 2015. PMID: 25444595 Free PMC article.
129 results