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Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits.
Herranz-Martin S, Chandran J, Lewis K, Mulcahy P, Higginbottom A, Walker C, Valenzuela IMY, Jones RA, Coldicott I, Iannitti T, Akaaboune M, El-Khamisy SF, Gillingwater TH, Shaw PJ, Azzouz M. Herranz-Martin S, et al. Among authors: shaw pj. Dis Model Mech. 2017 Jul 1;10(7):859-868. doi: 10.1242/dmm.029892. Epub 2017 May 26. Dis Model Mech. 2017. PMID: 28550099 Free PMC article.
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: shaw pj. 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. Among authors: shaw pj. Brain. 2012 Mar;135(Pt 3):751-64. doi: 10.1093/brain/awr365. Brain. 2012. PMID: 22366792 Free PMC article.
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: shaw pj. 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
965 results