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Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.
Perkins EM, Clarkson YL, Sabatier N, Longhurst DM, Millward CP, Jack J, Toraiwa J, Watanabe M, Rothstein JD, Lyndon AR, Wyllie DJ, Dutia MB, Jackson M. Perkins EM, et al. Among authors: rothstein jd. J Neurosci. 2010 Apr 7;30(14):4857-67. doi: 10.1523/JNEUROSCI.6065-09.2010. J Neurosci. 2010. PMID: 20371805 Free PMC article.
Models of amyotrophic lateral sclerosis.
Jackson M, Ganel R, Rothstein JD. Jackson M, et al. Among authors: rothstein jd. Curr Protoc Neurosci. 2002 Nov;Chapter 9:Unit 9.13. doi: 10.1002/0471142301.ns0913s20. Curr Protoc Neurosci. 2002. PMID: 18428572 Review.
Spectrin mutations cause spinocerebellar ataxia type 5.
Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Dürr A, Zühlke C, Bürk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP. Ikeda Y, et al. Among authors: rothstein jd. Nat Genet. 2006 Feb;38(2):184-90. doi: 10.1038/ng1728. Epub 2006 Jan 22. Nat Genet. 2006. PMID: 16429157
322 results