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Spinocerebellar ataxia 14
- ... P. Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. Cerebellum. 2008;7(2):106-14. doi: 10.1007/s12311-008-0009-0. Citation ...
- ... 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. ...
- Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. People with this condition ...
- ... and symptoms of the condition. FA FRDA Friedreich spinocerebellar ataxia Friedrich's ataxia Genetic Testing Registry: Friedreich ataxia ... in Friedreich ataxia. Mutat Res. 2015 Nov;781:14-21. doi: 10.1016/j.mrfmmm.2015.08. ...
- ... anemia with ataxia X-linked sideroblastic anemia and spinocerebellar ataxia National Organization for Rare Disorders (NORD) ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT PubMed Bekri S, D'Hooghe M, Vermeersch ...