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Results 1 - 10 of 11 for Autosomal recessive spinocerebellar ataxia 10
  1. TPP1 gene 
    ... JT, van de Warrenburg BP, Maat-Kievit AJ. Autosomal recessive spinocerebellar ... May;34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar 11. Citation ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  2. Autosomal recessive cerebellar ataxia type 1 
    ... show signs and symptoms of the condition. ARCA1 Autosomal recessive spinocerebellar ataxia 8 Recessive ataxia of Beauce Genetic Testing Registry: ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8 PubMed Beaudin M, Gamache PL, Gros- ...
    https://medlineplus.gov/...osomal-recessive-cerebellar-ataxia-type-1 - Genetics
  3. Primary coenzyme Q10 deficiency 
    Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  4. 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
  5. Infantile-onset spinocerebellar ataxia 
    ... 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. Epub 2005 Aug 31. Citation on PubMed
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  6. 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. Epub 2005 Aug 31. Citation ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  7. 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
  8. Myoclonic epilepsy myopathy sensory 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. MEMSA SCAE Spinocerebellar ataxia with epilepsy Genetic Testing Registry: Spinocerebellar ataxia with ...
    https://medlineplus.gov/...yoclonic-epilepsy-myopathy-sensory-ataxia - Genetics
  9. 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
  10. 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
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