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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
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.
Gene expression assays.
Kirby J, Heath PR, Shaw PJ, Hamdy FC. Kirby J, et al. Adv Clin Chem. 2007;44:247-92. doi: 10.1016/s0065-2423(07)44008-2. Adv Clin Chem. 2007. PMID: 17682345 Review.
1,562 results