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Results 1 - 5 of 5 for Spinocerebellar "ataxia," autosomal recessive 26
  1. ... doi: 10.1074/jbc.M806947200. Epub 2008 Nov 26. Citation on PubMed ... recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, ...
  2. ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8 PubMed Beaudin M, Gamache PL, Gros- ...
  3. ... with oculomotor apraxia and hypoalbuminemia Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Ataxia-oculomotor apraxia 3 ...
  4. ... 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 ...
  5. ... Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I ...