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Spinocerebellar ataxia type 21
- ... of the abnormal hexanucleotide GGCCUG repeat expansion in spinocerebellar ataxia type 36 (Asidan). Eur J Neurol. 2014 Nov;21(11):1377-86. doi: 10.1111/ene.12491. ...
- ... of the abnormal hexanucleotide GGCCUG repeat expansion in spinocerebellar ataxia type 36 (Asidan). Eur J Neurol. 2014 Nov;21(11):1377-86. doi: 10.1111/ene.12491. ...
- ... ATAXIA 6; SCA6 PubMed Casey HL, Gomez CM. Spinocerebellar Ataxia Type 6. 1998 Oct 23 [updated 2019 Nov 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
- ... AM, Noher de Halac I. Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. Gene. 2013 Mar 1;516(1):114-21. doi: 10.1016/j.gene.2012.12.058. ...
- ... with ocular motor apraxia and hypoalbuminemia SCAN2 SCAR1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia, recessive, non-Friedreich type 1 ...
- ... ITPR1 gene have been identified in people with spinocerebellar ataxia type 15 (SCA15), spinocerebellar ataxia type 29 (SCA29), and less commonly, in other forms ...
- ... swelling and coma. More About This Health Condition Spinocerebellar ataxia type 6 (SCA6) is another disorder caused by CACNA1A ... encephalopathies. Nature. 2013 Sep 12;501(7466):217-21. doi: ... episodic ataxia type 2 mutations involve disruption of membrane trafficking of ...