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Results 1 - 5 of 5 for Spinocerebellar ataxia 14
  1. ... Spelbrink JN, Lonnqvist T, Peltonen L. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet. 2005 Oct 15;14(20):2981-90. doi: 10.1093/hmg/ddi328. ...
  2. ... letters GGCCTG and is typically repeated 3 to 14 times within intron 1. The function of this repeated hexanucleotide is unclear. NOP56 gene mutations cause spinocerebellar ataxia type 36 (SCA36), which is a condition characterized ...
  3. ... O. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia ... in a SCA17 family. Neurology. 2006 Nov 14;67(9):1701-3. doi: 10.1212/01. ...
  4. ... regulating the first stage of protein production (transcription). Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by ... binding sites. Biopolymers. 2009 Dec;91(12):1203-14. doi: 10.1002/bip.21210. Citation on PubMed
  5. ... swelling and coma. More About This Health Condition Spinocerebellar ataxia type 6 (SCA6) is another disorder caused by ... early-onset sporadic hemiplegic migraine. Neurology. 2010 Sep 14;75(11):967-72. doi: 10.1212/WNL. ...