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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: highley jr. 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: highley jr. 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
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. Among authors: highley jr. Neurology. 2013 Aug 27;81(9):808-11. doi: 10.1212/WNL.0b013e3182a2cc38. Epub 2013 Jul 24. Neurology. 2013. PMID: 23884045 Free PMC article.
Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.
Highley JR, Kirby J, Jansweijer JA, Webb PS, Hewamadduma CA, Heath PR, Higginbottom A, Raman R, Ferraiuolo L, Cooper-Knock J, McDermott CJ, Wharton SB, Shaw PJ, Ince PG. Highley JR, et al. Neuropathol Appl Neurobiol. 2014 Oct;40(6):670-85. doi: 10.1111/nan.12148. Neuropathol Appl Neurobiol. 2014. PMID: 24750229
58 results