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Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.
Ismail A, Cooper-Knock J, Highley JR, Milano A, Kirby J, Goodall E, Lowe J, Scott I, Constantinescu CS, Walters SJ, Price S, McDermott CJ, Sawcer S, Compston DA, Sharrack B, Shaw PJ. Ismail A, et al. Among authors: kirby j. J Neurol Neurosurg Psychiatry. 2013 Jan;84(1):79-87. doi: 10.1136/jnnp-2012-303326. Epub 2012 Oct 20. J Neurol Neurosurg Psychiatry. 2013. PMID: 23085936
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.
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.
1,555 results