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Results 1 - 10 of 10 for Spinocerebellar ataxia type 8
  1. Autosomal recessive cerebellar ataxia type 1 
    ... and symptoms of the condition. ARCA1 Autosomal recessive spinocerebellar ataxia 8 Recessive ataxia of Beauce Genetic Testing Registry: Autosomal recessive ataxia, Beauce type National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/...osomal-recessive-cerebellar-ataxia-type-1 - Genetics
  2. Spinocerebellar ataxia type 1 
    ... BP, Bauer P, Schols L. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord. 2008 Nov 15;23(15):2232-8. doi: 10.1002/mds.22288. Citation on PubMed ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-1 - Genetics
  3. ATXN1 gene 
    ... SCA1. Nature. 2008 Apr 10;452(7188):713-8. doi: 10.1038/nature06731. Epub 2008 Mar 12. Citation on PubMed or Free article on PubMed Central Zoghbi HY, Orr HT. Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem. 2009 Mar 20;284( ...
    https://medlineplus.gov/genetics/gene/atxn1 - Genetics
  4. Spinocerebellar ataxia type 36 
    ... Spinocerebellar ataxia 36 Genetic Testing ... A. Cognitive and affective impairments of a novel SCA/MND crossroad mutation Asidan. Eur J Neurol. 2012 Aug;19(8):1070-8. doi: 10.1111/j.1468-1331. ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-36 - Genetics
  5. Ataxia with oculomotor apraxia 
    ... with ocular motor apraxia and hypoalbuminemia SCAN2 SCAR1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia, recessive, non-Friedreich type 1 ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  6. ITPR1 gene 
    ... ITPR1 gene have been identified in people with spinocerebellar ataxia type 15 (SCA15), spinocerebellar ataxia type 29 (SCA29), and less commonly, in other forms ...
    https://medlineplus.gov/genetics/gene/itpr1 - Genetics
  7. ATXN2 gene 
    ... is repeated approximately 22 times within the gene. Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive ... ClinVar ... rough endoplasmic reticulum. Exp Neurol. 2009 Jan;215(1):110-8. doi: 10.1016/j.expneurol.2008.09.020. ...
    https://medlineplus.gov/genetics/gene/atxn2 - Genetics
  8. CACNA1A gene 
    ... swelling and coma. More About This Health Condition Spinocerebellar ataxia type 6 (SCA6) is another disorder caused by CACNA1A ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  9. Primary coenzyme Q10 deficiency 
    ... COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4 NEPHROTIC SYNDROME, TYPE 9; NPHS9 COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8 COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6 COENZYME ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  10. ABCB7 gene 
    ... a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. J ... ferrochelatase. Blood. 2003 Apr 15;101(8):3274-80. doi: 10.1182/blood-2002-04- ...
    https://medlineplus.gov/genetics/gene/abcb7 - Genetics