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Results 1 - 6 of 6 for Spinocerebellar "ataxia," autosomal recessive 23
  1. Autosomal recessive cerebellar ataxia type 1 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8 PubMed Beaudin M, Gamache PL, Gros-Louis F, Dupre N. SYNE1 Deficiency. 2007 Feb 23 [updated 2018 Dec 6]. In: Adam MP, Feldman ...
    https://medlineplus.gov/...osomal-recessive-cerebellar-ataxia-type-1 - Genetics
  2. Ataxia with oculomotor apraxia 
    ... with oculomotor apraxia and hypoalbuminemia Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Ataxia-oculomotor apraxia 3 ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  3. 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. Epub ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  4. 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. Epub ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  5. 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
  6. Huntington's disease-like syndrome 
    ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, ... National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/.../huntingtons-disease-like-syndrome - Genetics