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Results 1 - 5 of 5 for spinocerebellar disease
  1. ATXN1 gene 
    ... HT. Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem. 2009 Mar ...
    https://medlineplus.gov/genetics/gene/atxn1 - Genetics
  2. TBP gene 
    ... G, Kapaki E. From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17. Case Rep Neurol Med. 2014;2014: ... O. Clinical features and neuropathology of autosomal dominant spinocerebellar ... of the Huntington disease-like presentation in a SCA17 family. Neurology. 2006 ...
    https://medlineplus.gov/genetics/gene/tbp - Genetics
  3. TPP1 gene 
    ... de Warrenburg BP, Maat-Kievit AJ. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat. 2013 May;34(5): ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  4. TWNK gene 
    ... Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia ... Copeland WC. Disease variants of the human mitochondrial DNA helicase encoded ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  5. ATXN3 gene 
    ... regulating the first stage of protein production (transcription). ... I. Caring for Machado-Joseph disease: current understanding and how to help patients. Parkinsonism ...
    https://medlineplus.gov/genetics/gene/atxn3 - Genetics