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Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
Girard M, Larivière R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, Chapple JP, McPherson PS. Girard M, et al. Among authors: mckinney ra. Proc Natl Acad Sci U S A. 2012 Jan 31;109(5):1661-6. doi: 10.1073/pnas.1113166109. Epub 2012 Jan 17. Proc Natl Acad Sci U S A. 2012. PMID: 22307627 Free PMC article.
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Larivière R, Gaudet R, Gentil BJ, Girard M, Conte TC, Minotti S, Leclerc-Desaulniers K, Gehring K, McKinney RA, Shoubridge EA, McPherson PS, Durham HD, Brais B. Larivière R, et al. Among authors: mckinney ra. Hum Mol Genet. 2015 Feb 1;24(3):727-39. doi: 10.1093/hmg/ddu491. Epub 2014 Sep 26. Hum Mol Genet. 2015. PMID: 25260547 Free PMC article.
DNA methylation mediates persistent epileptiform activity in vitro and in vivo.
Machnes ZM, Huang TC, Chang PK, Gill R, Reist N, Dezsi G, Ozturk E, Charron F, O'Brien TJ, Jones NC, McKinney RA, Szyf M. Machnes ZM, et al. Among authors: mckinney ra. PLoS One. 2013 Oct 2;8(10):e76299. doi: 10.1371/journal.pone.0076299. eCollection 2013. PLoS One. 2013. PMID: 24098468 Free PMC article.
108 results