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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. ...
- ... 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. ...
- ... letters GGCCTG and is typically repeated 3 to 14 times within intron 1. The function of this repeated hexanucleotide is unclear. NOP56 gene mutations cause spinocerebellar ataxia type 36 (SCA36), which is a condition characterized ...
- ... O. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia ... in a SCA17 family. Neurology. 2006 Nov 14;67(9):1701-3. doi: 10.1212/01. ...
- 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. ...
- ... linked sideroblastic anemia with ataxia Anemia sideroblastic and spinocerebellar ataxia National Organization for Rare Disorders (NORD) ANEMIA, SIDEROBLASTIC, ...
- ... regulating the first stage of protein production (transcription). Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by ... binding sites. Biopolymers. 2009 Dec;91(12):1203-14. doi: 10.1002/bip.21210. Citation on PubMed
- ... swelling and coma. More About This Health Condition Spinocerebellar ataxia type 6 (SCA6) is another disorder caused by ... early-onset sporadic hemiplegic migraine. Neurology. 2010 Sep 14;75(11):967-72. doi: 10.1212/WNL. ...