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A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20.
Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJ, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB. Knight MA, et al. Among authors: storey e. Hum Mol Genet. 2008 Dec 15;17(24):3847-53. doi: 10.1093/hmg/ddn283. Epub 2008 Sep 18. Hum Mol Genet. 2008. PMID: 18801880 Free PMC article.
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB. van de Leemput J, et al. Among authors: storey e. PLoS Genet. 2007 Jun;3(6):e108. doi: 10.1371/journal.pgen.0030108. Epub 2007 May 16. PLoS Genet. 2007. PMID: 17590087 Free PMC article.
Spinocerebellar ataxia type 15.
Storey E, Gardner RJ. Storey E, et al. Handb Clin Neurol. 2012;103:561-5. doi: 10.1016/B978-0-444-51892-7.00037-1. Handb Clin Neurol. 2012. PMID: 21827915 Review.
Spinocerebellar ataxia type 20.
Storey E, Gardner RJ. Storey E, et al. Handb Clin Neurol. 2012;103:567-73. doi: 10.1016/B978-0-444-51892-7.00038-3. Handb Clin Neurol. 2012. PMID: 21827916 Review.
Spinocerebellar ataxia type 15.
Gardner RJ, Knight MA, Hara K, Tsuji S, Forrest SM, Storey E. Gardner RJ, et al. Among authors: storey e. Cerebellum. 2005;4(1):47-50. doi: 10.1080/14734220410019029. Cerebellum. 2005. PMID: 15895559 Review.
Spinocerebellar ataxia type 20.
Storey E, Knight MA, Forrest SM, Gardner RJ. Storey E, et al. Cerebellum. 2005;4(1):55-7. doi: 10.1080/14734220410019048. Cerebellum. 2005. PMID: 15895561
A new autosomal dominant pure cerebellar ataxia.
Storey E, Gardner RJ, Knight MA, Kennerson ML, Tuck RR, Forrest SM, Nicholson GA. Storey E, et al. Neurology. 2001 Nov 27;57(10):1913-5. doi: 10.1212/wnl.57.10.1913. Neurology. 2001. PMID: 11723290
398 results