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Results 1 - 8 of 8 for Spinocerebellar ataxia type 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. 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 by ...
    https://medlineplus.gov/genetics/gene/nop56 - Genetics
  3. Spinocerebellar ataxia type 36 
    Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid- ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-36 - Genetics
  4. TBP gene 
    ... as Huntington's disease-like 4 (HDL4) or spinocerebellar ataxia type 17 (SCA17). The features of this disorder vary ... X. Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. Eur J Hum Genet. 2008 Feb;16( ...
    https://medlineplus.gov/genetics/gene/tbp - Genetics
  5. ATXN3 gene 
    ... regulating the first stage of protein production (transcription). Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive ...
    https://medlineplus.gov/genetics/gene/atxn3 - Genetics
  6. CACNA1A gene 
    ... swelling and coma. More About This Health Condition Spinocerebellar ataxia type 6 (SCA6) is another disorder caused by CACNA1A ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  7. Infantile-onset spinocerebellar ataxia 
    ... and Twinky. Hum Mol Genet. 2005 Oct 15;14(20):2981-90. doi: 10.1093/hmg/ddi328. Epub 2005 Aug 31. Citation on PubMed
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  8. 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