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Spinocerebellar ataxia 8
- ... and symptoms of the condition. ARCA1 Autosomal recessive spinocerebellar ataxia 8 Recessive ataxia of Beauce Genetic Testing Registry: Autosomal ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov SPINOCEREBELLAR ATAXIA, ... PubMed Beaudin M, Gamache PL, Gros-Louis ...
- ... 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 ...
- Friedreich ataxia is a rare disease passed down through families (inherited). It affects the muscles and heart. ... Friedreich ataxia is ...
- ... ClinVar ... rough endoplasmic reticulum. Exp Neurol. 2009 Jan;215(1):110-8. doi: 10.1016/j.expneurol.2008.09.020. ...
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... 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. ...
- ... 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- ...
- ... 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; ...
- ... with ocular motor apraxia and hypoalbuminemia SCAN2 SCAR1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia, recessive, non-Friedreich type 1 Genetic Testing Registry: ...
- ... adulthood. This condition had previously been known as spinocerebellar ataxia with epilepsy (SCAE).The first symptom of MEMSA ... signs and symptoms of the condition. MEMSA SCAE Spinocerebellar ataxia with epilepsy Genetic Testing Registry: Spinocerebellar ataxia with ...
- ... and symptoms of the condition. FA FRDA Friedreich spinocerebellar ataxia Friedrich's ataxia Genetic Testing Registry: Friedreich ataxia ... gene in Friedreich ataxia. Biochimie. 2008 Aug;90(8):1131-9. doi: 10.1016/j.biochi.2007. ...