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Spinocerebellar ataxia type 6
- Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience ...
- ... Gotay D, Jorge Cedeno H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in ... Sci. 2010 Mar 15;290(1-2):22-6. doi: 10.1016/j.jns.2009.12.013. Epub 2010 Jan 12. Citation on PubMed
- ... BP, Bauer P, Schols L. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord. 2008 Nov 15;23(15):2232- ... PubMed Kang S, Hong S. Molecular pathogenesis of spinocerebellar ataxia type 1 disease. Mol Cells. 2009 Jun 30;27(6):621-7. doi: 10.1007/s10059-009-0095- ...
- ... Beauce Genetic Testing Registry: Autosomal recessive ataxia, Beauce ... Beaudin M, Gamache PL, Gros-Louis F, Dupre N. SYNE1 Deficiency. 2007 Feb 23 [updated 2018 Dec 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
- ... Joseph disease (SCA3). Clin Genet. 2007 Dec;72(6):543-5. doi: 10.1111/j.1399-0004.2007.00910.x. Epub ... Citation on PubMed
- ... disease-like 2 Genetic Testing Registry: Spinocerebellar ataxia type 17 ... 10.1093/brain/awg155. Epub 2003 May 6. Citation on PubMed Wild EJ, Mudanohwo EE, Sweeney ...
- ... Disorders (NORD) MITOCHONDRIAL DNA ... epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. doi: 10.1093/brain/awp045. Epub ...
- ... EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH SPINOCEREBELLAR ... Epub 2017 Dec 6. Citation on PubMed Criscuolo C, Chessa L, Di ...
- Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder ...