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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: kirby j. PLoS One. 2010 Mar 24;5(3):e9872. doi: 10.1371/journal.pone.0009872. PLoS One. 2010. PMID: 20352044 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: kirby j. 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
Clinical features of hereditary spastic paraplegia due to spastin mutation.
McDermott CJ, Burness CE, Kirby J, Cox LE, Rao DG, Hewamadduma C, Sharrack B, Hadjivassiliou M, Chinnery PF, Dalton A, Shaw PJ; UK and Irish HSP Consortium. McDermott CJ, et al. Among authors: kirby j. Neurology. 2006 Jul 11;67(1):45-51. doi: 10.1212/01.wnl.0000223315.62404.00. Neurology. 2006. PMID: 16832076
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.
Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, Kwong LK, Forman MS, Ravits J, Stewart H, Eisen A, McClusky L, Kretzschmar HA, Monoranu CM, Highley JR, Kirby J, Siddique T, Shaw PJ, Lee VM, Trojanowski JQ. Mackenzie IR, et al. Among authors: kirby j. Ann Neurol. 2007 May;61(5):427-34. doi: 10.1002/ana.21147. Ann Neurol. 2007. PMID: 17469116
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. Neurology. 2007 May 29;68(22):1951-3. doi: 10.1212/01.wnl.0000263195.50981.a6. Neurology. 2007. PMID: 17536055 No abstract available.
1,561 results