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Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene.
Cooper-Knock J, Zhang S, Kenna KP, Moll T, Franklin JP, Allen S, Nezhad HG, Iacoangeli A, Yacovzada NY, Eitan C, Hornstein E, Elhaik E, Celadova P, Bose D, Farhan S, Fishilevich S, Lancet D, Morrison KE, Shaw CE, Al-Chalabi A; Project MinE ALS Sequencing Consortium; Veldink JH, Kirby J, Snyder MP, Shaw PJ. Cooper-Knock J, et al. Among authors: shaw ce, shaw pj. Cell Rep. 2020 Dec 1;33(9):108456. doi: 10.1016/j.celrep.2020.108456. Cell Rep. 2020. PMID: 33264630 Free PMC article.
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.
Gene expression assays.
Kirby J, Heath PR, Shaw PJ, Hamdy FC. Kirby J, et al. Among authors: shaw pj. Adv Clin Chem. 2007;44:247-92. doi: 10.1016/s0065-2423(07)44008-2. Adv Clin Chem. 2007. PMID: 17682345 Review.
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.
939 results