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The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.
Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr, Weale ME, Al-Chalabi A, Shaw CE. Smith BN, et al. Among authors: shaw ce, shaw pj. Eur J Hum Genet. 2013 Jan;21(1):102-8. doi: 10.1038/ejhg.2012.98. Epub 2012 Jun 13. Eur J Hum Genet. 2013. PMID: 22692064 Free PMC article.
Large-scale pathways-based association study in amyotrophic lateral sclerosis.
Kasperaviciute D, Weale ME, Shianna KV, Banks GT, Simpson CL, Hansen VK, Turner MR, Shaw CE, Al-Chalabi A, Pall HS, Goodall EF, Morrison KE, Orrell RW, Beck M, Jablonka S, Sendtner M, Brockington A, Ince PG, Hartley J, Nixon H, Shaw PJ, Schiavo G, Wood NW, Goldstein DB, Fisher EM. Kasperaviciute D, et al. Among authors: shaw ce, shaw pj. Brain. 2007 Sep;130(Pt 9):2292-301. doi: 10.1093/brain/awm055. Epub 2007 Apr 17. Brain. 2007. PMID: 17439985 Free article.
Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content.
De Vos KJ, Chapman AL, Tennant ME, Manser C, Tudor EL, Lau KF, Brownlees J, Ackerley S, Shaw PJ, McLoughlin DM, Shaw CE, Leigh PN, Miller CCJ, Grierson AJ. De Vos KJ, et al. Among authors: shaw ce, shaw pj. Hum Mol Genet. 2007 Nov 15;16(22):2720-2728. doi: 10.1093/hmg/ddm226. Epub 2007 Aug 28. Hum Mol Genet. 2007. PMID: 17725983 Free PMC article.
321 results