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A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.
Valdmanis PN, Dupré N, Lachance M, Stochmanski SJ, Belzil VV, Dion PA, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels ME, Rouleau GA. Valdmanis PN, et al. Among authors: weston l. Brain. 2011 Feb;134(Pt 2):602-7. doi: 10.1093/brain/awq329. Epub 2010 Nov 28. Brain. 2011. PMID: 21115467
Autosomal dominant sensory ataxia: a neuroaxonal dystrophy.
Moeller JJ, Macaulay RJ, Valdmanis PN, Weston LE, Rouleau GA, Dupré N. Moeller JJ, et al. Acta Neuropathol. 2008 Sep;116(3):331-6. doi: 10.1007/s00401-008-0362-6. Epub 2008 Mar 18. Acta Neuropathol. 2008. PMID: 18347805
187 results