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Results 1 - 10 of 10 for Spinocerebellar ataxia 14
  1. Spinocerebellar ataxia type 1 
    ... P. Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. Cerebellum. 2008;7(2):106-14. doi: 10.1007/s12311-008-0009-0. Citation ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-1 - Genetics
  2. Infantile-onset spinocerebellar ataxia 
    ... 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. ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  3. TWNK gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  4. NOP56 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/nop56 - Genetics
  5. TBP gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/tbp - Genetics
  6. Spinocerebellar ataxia type 36 
    Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. People with this condition ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-36 - Genetics
  7. Friedreich ataxia 
    ... and symptoms of the condition. FA FRDA Friedreich spinocerebellar ataxia Friedrich's ataxia Genetic Testing Registry: Friedreich ataxia ... in Friedreich ataxia. Mutat Res. 2015 Nov;781:14-21. doi: 10.1016/j.mrfmmm.2015.08. ...
    https://medlineplus.gov/genetics/condition/friedreich-ataxia - Genetics
  8. X-linked sideroblastic anemia and ataxia 
    ... linked sideroblastic anemia with ataxia Anemia sideroblastic and spinocerebellar ataxia National Organization for Rare Disorders (NORD) ANEMIA, SIDEROBLASTIC, ...
    https://medlineplus.gov/.../x-linked-sideroblastic-anemia-and-ataxia - Genetics
  9. ATXN3 gene 
    ... 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
    https://medlineplus.gov/genetics/gene/atxn3 - Genetics
  10. CACNA1A gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics