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Spinocerebellar ataxia 12
- ... j.jns.2009.12.013. Epub 2010 Jan 12. Citation on PubMed
- ... Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem. 2009 Mar 20;284(12):7425-9. doi: 10.1074/jbc.R800041200. Epub ...
- ... Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem. 2009 Mar 20;284(12):7425-9. doi: 10.1074/jbc.R800041200. Epub ...
- Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with ...
- ... a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. J Hum Genet. ... 2002 Dec 12. Citation on PubMed
- ... 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: ...
- ... with hypogonadism and choroidal dystrophy syndrome Chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism Spinocerebellar ataxia, hypogonadotropic hypogonadism, and ...
- ... TPP1 gene have also been found to cause spinocerebellar ataxia, autosomal recessive 7 (SCAR7), which is a condition ... Tests of TPP1 PubMed TRIPEPTIDYL PEPTIDASE I; TPP1 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7 NCBI Gene ClinVar Elleder ...
- ... and symptoms of the condition. FA FRDA Friedreich spinocerebellar ataxia Friedrich's ataxia Genetic Testing Registry: Friedreich ataxia ... ataxia patients. J Med Genet. 2008 Dec;45(12):808-12. doi: 10.1136/jmg.2008.058594. ...
- ... 78-87. doi: 10.1016/j.biochi.2013.12.006. Epub 2013 Dec 16. Citation on PubMed ...