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Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).
Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, Mortiboys H, Hollinger HC, Hartley JA, Brockington A, Burness CE, Morrison KE, Wharton SB, Grierson AJ, Ince PG, Kirby J, Shaw PJ. Cox LE, et al. Among authors: hartley ja. PLoS One. 2010 Mar 24;5(3):e9872. doi: 10.1371/journal.pone.0009872. PLoS One. 2010. PMID: 20352044 Free PMC article.
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.
Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C, Baxter L, Forster G, Fox M, Bury J, Mok K, McDermott CJ, Traynor BJ, Kirby J, Wharton SB, Ince PG, Hardy J, Shaw PJ. Cooper-Knock J, et al. Brain. 2012 Mar;135(Pt 3):751-64. doi: 10.1093/brain/awr365. Brain. 2012. PMID: 22366792 Free PMC article.
Mutations in VAPB are not associated with sporadic ALS.
Kirby J, Hewamadduma CA, Hartley JA, Nixon HC, Evans H, Wadhwa RR, Kershaw C, Ince PG, Shaw PJ. Kirby J, et al. Among authors: hartley ja. Neurology. 2007 May 29;68(22):1951-3. doi: 10.1212/01.wnl.0000263195.50981.a6. Neurology. 2007. PMID: 17536055 No abstract available.
C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.
Cooper-Knock J, Frolov A, Highley JR, Charlesworth G, Kirby J, Milano A, Hartley J, Ince PG, McDermott CJ, Lashley T, Revesz T, Shaw PJ, Wood NW, Bandmann O. Cooper-Knock J, et al. Neurology. 2013 Aug 27;81(9):808-11. doi: 10.1212/WNL.0b013e3182a2cc38. Epub 2013 Jul 24. Neurology. 2013. PMID: 23884045 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. Brain. 2007 Sep;130(Pt 9):2292-301. doi: 10.1093/brain/awm055. Epub 2007 Apr 17. Brain. 2007. PMID: 17439985 Free article.
342 results