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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: vourc h p. Brain. 2023 Sep 1;146(9):3760-3769. doi: 10.1093/brain/awad120. Brain. 2023. PMID: 37043475 Free PMC article.
SMN1 gene, but not SMN2, is a risk factor for sporadic ALS.
Corcia P, Camu W, Halimi JM, Vourc'h P, Antar C, Vedrine S, Giraudeau B, de Toffol B, Andres CR; French ALS Study Group. Corcia P, et al. Neurology. 2006 Oct 10;67(7):1147-50. doi: 10.1212/01.wnl.0000233830.85206.1e. Epub 2006 Aug 23. Neurology. 2006. PMID: 16931506 Clinical Trial.
Respiratory onset in an ALS family with L144F SOD1 mutation.
Corcia P, Petiot P, Stevic Z, Vourc'h P, Morales R, Gordon PH, Pageot N, Andres C, Camu W. Corcia P, et al. J Neurol Neurosurg Psychiatry. 2011 Jul;82(7):747-9. doi: 10.1136/jnnp.2009.197558. Epub 2010 Jun 20. J Neurol Neurosurg Psychiatry. 2011. PMID: 20562451
174 results