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Results 1 - 5 of 5 for Autosomal recessive spinocerebellar ataxia 17
  1. Infantile-onset spinocerebellar ataxia 
    ... Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ddn280. ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  2. Friedreich ataxia 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. FA FRDA Friedreich spinocerebellar ataxia Friedrich's ataxia Genetic Testing Registry: Friedreich ataxia ...
    https://medlineplus.gov/genetics/condition/friedreich-ataxia - Genetics
  3. TWNK gene 
    ... Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ddn280. ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  4. Boucher-Neuhäuser syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry ... hypogonadotropic hypogonadism Spinocerebellar ataxia, hypogonadotropic hypogonadism, ...
    https://medlineplus.gov/.../condition/boucher-neuhauser-syndrome - Genetics
  5. Huntington's disease-like 
    ... LIKE 1; HDL1 HUNTINGTON DISEASE-LIKE 3; HDL3 SPINOCEREBELLAR ATAXIA 17; SCA17 HUNTINGTON DISEASE-LIKE 2; HDL2 PubMed Anderson ... Onodera O, Yamada M, Tsuji S, Takahashi H. Spinocerebellar Ataxia Type 17. 2005 Mar 29 [updated 2022 Jul 28]. In: ...
    https://medlineplus.gov/genetics/condition/huntingtons-disease-like - Genetics