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Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH, Moisse M, van Vugt JJFA, Zwamborn RAJ, van der Spek R, van Rheenen W, Van Eijk K, Kenna K, Corcia P, Vourc'h P, Couratier P, Hardiman O, McLaughin R, Gotkine M, Drory V, Ticozzi N, Silani V, Ratti A, de Carvalho M, Mora Pardina JS, Povedano M, Andersen PM, Weber M, Başak NA, Shaw C, Shaw PJ, Morrison KE, Landers JE, Glass JD, van Es MA, van den Berg LH, Al-Chalabi A, Veldink J, Van Damme P. Van Daele SH, et al. Among authors: shaw c, shaw pj. Brain. 2023 Sep 1;146(9):3760-3769. doi: 10.1093/brain/awad120. Brain. 2023. PMID: 37043475 Free PMC article.
Mutations in all five exons of SOD-1 may cause ALS.
Shaw CE, Enayat ZE, Chioza BA, Al-Chalabi A, Radunovic A, Powell JF, Leigh PN. Shaw CE, et al. Ann Neurol. 1998 Mar;43(3):390-4. doi: 10.1002/ana.410430319. Ann Neurol. 1998. PMID: 9506558
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.
Al-Chalabi A, Andersen PM, Chioza B, Shaw C, Sham PC, Robberecht W, Matthijs G, Camu W, Marklund SL, Forsgren L, Rouleau G, Laing NG, Hurse PV, Siddique T, Leigh PN, Powell JF. Al-Chalabi A, et al. Among authors: shaw c. Hum Mol Genet. 1998 Dec;7(13):2045-50. doi: 10.1093/hmg/7.13.2045. Hum Mol Genet. 1998. PMID: 9817920
3,017 results