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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: ferraiuolo l. PLoS One. 2010 Mar 24;5(3):e9872. doi: 10.1371/journal.pone.0009872. PLoS One. 2010. PMID: 20352044 Free PMC article.
Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis.
Kirby J, Ning K, Ferraiuolo L, Heath PR, Ismail A, Kuo SW, Valori CF, Cox L, Sharrack B, Wharton SB, Ince PG, Shaw PJ, Azzouz M. Kirby J, et al. Among authors: ferraiuolo l. Brain. 2011 Feb;134(Pt 2):506-17. doi: 10.1093/brain/awq345. Epub 2011 Jan 12. Brain. 2011. PMID: 21228060 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: ferraiuolo l. 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.
56 results