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Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis.
Cooper-Knock J, Moll T, Ramesh T, Castelli L, Beer A, Robins H, Fox I, Niedermoser I, Van Damme P, Moisse M, Robberecht W, Hardiman O, Panades MP, Assialioui A, Mora JS, Basak AN, Morrison KE, Shaw CE, Al-Chalabi A, Landers JE, Wyles M, Heath PR, Higginbottom A, Walsh T, Kazoka M, McDermott CJ, Hautbergue GM, Kirby J, Shaw PJ. Cooper-Knock J, et al. Among authors: shaw ce, shaw pj. Cell Rep. 2019 Feb 26;26(9):2298-2306.e5. doi: 10.1016/j.celrep.2019.02.006. Cell Rep. 2019. PMID: 30811981 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
Hereditary spastic paraplegia.
McDermott CJ, Shaw PJ. McDermott CJ, et al. Among authors: shaw pj. Int Rev Neurobiol. 2002;53:191-204. doi: 10.1016/s0074-7742(02)53008-7. Int Rev Neurobiol. 2002. PMID: 12512341 Review. No abstract available.
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
940 results