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Page 1
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium; van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE. Smith BN, et al. Among authors: shaw ce, shaw pj. Neuron. 2014 Oct 22;84(2):324-31. doi: 10.1016/j.neuron.2014.09.027. Epub 2014 Oct 22. Neuron. 2014. PMID: 25374358 Free PMC article.
Cu/Zn superoxide dismutase (SOD1) mutations associated with familial amyotrophic lateral sclerosis (ALS) affect cellular free radical release in the presence of oxidative stress.
Cookson MR, Menzies FM, Manning P, Eggett CJ, Figlewicz DA, McNeil CJ, Shaw PJ. Cookson MR, et al. Among authors: shaw pj. Amyotroph Lateral Scler Other Motor Neuron Disord. 2002 Jun;3(2):75-85. doi: 10.1080/146608202760196048. Amyotroph Lateral Scler Other Motor Neuron Disord. 2002. PMID: 12215229
No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders.
Ahmad-Annuar A, Shah P, Hafezparast M, Hummerich H, Witherden AS, Morrison KE, Shaw PJ, Kirby J, Warner TT, Crosby A, Proukakis C, Wilkinson P, Orrell RW, Bradley L, Martin JE, Fisher EM. Ahmad-Annuar A, et al. Among authors: shaw pj. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep;4(3):150-7. doi: 10.1080/14660820310011737. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003. PMID: 13129801
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.
Pattern of spread and prognosis in lower limb-onset ALS.
Turner MR, Brockington A, Scaber J, Hollinger H, Marsden R, Shaw PJ, Talbot K. Turner MR, et al. Among authors: shaw pj. Amyotroph Lateral Scler. 2010 Aug;11(4):369-73. doi: 10.3109/17482960903420140. Amyotroph Lateral Scler. 2010. PMID: 20001488 Free PMC article.
962 results