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A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.
Brain. 2011 Feb;134(Pt 2):602-7. doi: 10.1093/brain/awq329. Epub 2010 Nov 28.
Brain. 2011.
PMID: 21115467
Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.
Stochmanski SJ, Therrien M, Laganière J, Rochefort D, Laurent S, Karemera L, Gaudet R, Vyboh K, Van Meyel DJ, Di Cristo G, Dion PA, Gaspar C, Rouleau GA.
Stochmanski SJ, et al.
Hum Mol Genet. 2012 May 15;21(10):2211-8. doi: 10.1093/hmg/dds036. Epub 2012 Feb 14.
Hum Mol Genet. 2012.
PMID: 22337953
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