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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel … See abstract for full author list ➔ van Rheenen W, et al. Among authors: wood nw. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
David G, Abbas N, Stevanin G, Dürr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A. David G, et al. Nat Genet. 1997 Sep;17(1):65-70. doi: 10.1038/ng0997-65. Nat Genet. 1997. PMID: 9288099
Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD).
Vaughan JR, Farrer MJ, Wszolek ZK, Gasser T, Durr A, Agid Y, Bonifati V, DeMichele G, Volpe G, Lincoln S, Breteler M, Meco G, Brice A, Marsden CD, Hardy J, Wood NW. Vaughan JR, et al. Among authors: wood nw. Hum Mol Genet. 1998 Apr;7(4):751-3. doi: 10.1093/hmg/7.4.751. Hum Mol Genet. 1998. PMID: 9499430
The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.
Harhangi BS, Farrer MJ, Lincoln S, Bonifati V, Meco G, De Michele G, Brice A, Dürr A, Martinez M, Gasser T, Bereznai B, Vaughan JR, Wood NW, Hardy J, Oostra BA, Breteler MM. Harhangi BS, et al. Among authors: wood nw. Neurosci Lett. 1999 Jul 23;270(1):1-4. doi: 10.1016/s0304-3940(99)00465-6. Neurosci Lett. 1999. PMID: 10454131
Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.
Gaspar C, Lopes-Cendes I, Hayes S, Goto J, Arvidsson K, Dias A, Silveira I, Maciel P, Coutinho P, Lima M, Zhou YX, Soong BW, Watanabe M, Giunti P, Stevanin G, Riess O, Sasaki H, Hsieh M, Nicholson GA, Brunt E, Higgins JJ, Lauritzen M, Tranebjaerg L, Volpini V, Wood N, Ranum L, Tsuji S, Brice A, Sequeiros J, Rouleau GA. Gaspar C, et al. Am J Hum Genet. 2001 Feb;68(2):523-8. doi: 10.1086/318184. Epub 2000 Dec 20. Am J Hum Genet. 2001. PMID: 11133357 Free PMC article.
Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease.
Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Bétard C, Hardy J, De Michele G, Bonifati V, Oostra B, Gasser T, Wood NW, Dürr A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Martinez M, et al. Among authors: wood nw. J Med Genet. 2004 Dec;41(12):900-7. doi: 10.1136/jmg.2004.022632. J Med Genet. 2004. PMID: 15591275 Free PMC article.
The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.
Sharma M, Mueller JC, Zimprich A, Lichtner P, Hofer A, Leitner P, Maass S, Berg D, Dürr A, Bonifati V, De Michele G, Oostra B, Brice A, Wood NW, Muller-Myhsok B, Gasser T; European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD). Sharma M, et al. Among authors: wood nw. J Med Genet. 2006 Jul;43(7):557-62. doi: 10.1136/jmg.2005.039149. Epub 2006 Jan 27. J Med Genet. 2006. PMID: 16443856 Free PMC article.
529 results