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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: gehring k. 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.
Characterization of a gamma-adaptin ear-binding motif in enthoprotin.
Wasiak S, Denisov AY, Han Z, Leventis PA, de Heuvel E, Boulianne GL, Kay BK, Gehring K, McPherson PS. Wasiak S, et al. Among authors: gehring k. FEBS Lett. 2003 Dec 18;555(3):437-42. doi: 10.1016/s0014-5793(03)01299-7. FEBS Lett. 2003. PMID: 14675752 Free article.
The NECAP PHear domain increases clathrin accessory protein binding potential.
Ritter B, Denisov AY, Philie J, Allaire PD, Legendre-Guillemin V, Zylbergold P, Gehring K, McPherson PS. Ritter B, et al. Among authors: gehring k. EMBO J. 2007 Sep 19;26(18):4066-77. doi: 10.1038/sj.emboj.7601836. Epub 2007 Aug 30. EMBO J. 2007. PMID: 17762867 Free PMC article.
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: gehring k. 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.
Diversity of ARSACS mutations in French-Canadians.
Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard JP, Mathieu J, Brais B. Thiffault I, et al. Among authors: gehring k. Can J Neurol Sci. 2013 Jan;40(1):61-6. doi: 10.1017/s0317167100012968. Can J Neurol Sci. 2013. PMID: 23250129
346 results