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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: d alfonso s, fan d. 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.
Six SQSTM1 mutations in a Chinese amyotrophic lateral sclerosis cohort.
Yang Y, Tang L, Zhang N, Pan L, Hadano S, Fan D. Yang Y, et al. Among authors: fan d. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(5-6):378-84. doi: 10.3109/21678421.2015.1009466. Epub 2015 Feb 24. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 25708934
C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.
He J, Tang L, Benyamin B, Shah S, Hemani G, Liu R, Ye S, Liu X, Ma Y, Zhang H, Cremin K, Leo P, Wray NR, Visscher PM, Xu H, Brown MA, Bartlett PF, Mangelsdorf M, Fan D. He J, et al. Among authors: fan d. Neurobiol Aging. 2015 Sep;36(9):2660.e1-8. doi: 10.1016/j.neurobiolaging.2015.06.002. Epub 2015 Jun 9. Neurobiol Aging. 2015. PMID: 26142124
5,066 results