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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: shaw pj. PLoS One. 2010 Mar 24;5(3):e9872. doi: 10.1371/journal.pone.0009872. PLoS One. 2010. PMID: 20352044 Free PMC article.
Gene expression profiling in human neurodegenerative disease.
Cooper-Knock J, Kirby J, Ferraiuolo L, Heath PR, Rattray M, Shaw PJ. Cooper-Knock J, et al. Among authors: shaw pj. Nat Rev Neurol. 2012 Sep;8(9):518-30. doi: 10.1038/nrneurol.2012.156. Epub 2012 Aug 14. Nat Rev Neurol. 2012. PMID: 22890216 Review.
Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS.
Meyer K, Ferraiuolo L, Miranda CJ, Likhite S, McElroy S, Renusch S, Ditsworth D, Lagier-Tourenne C, Smith RA, Ravits J, Burghes AH, Shaw PJ, Cleveland DW, Kolb SJ, Kaspar BK. Meyer K, et al. Among authors: shaw pj. Proc Natl Acad Sci U S A. 2014 Jan 14;111(2):829-32. doi: 10.1073/pnas.1314085111. Epub 2013 Dec 30. Proc Natl Acad Sci U S A. 2014. PMID: 24379375 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. Among authors: shaw pj. Neuropathol Appl Neurobiol. 2014 Oct;40(6):670-85. doi: 10.1111/nan.12148. Neuropathol Appl Neurobiol. 2014. PMID: 24750229
962 results