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Autosomal dominant sensory ataxia 1
- ... Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy. Clin Epigenetics. 2016 Sep 5;8(1):91. doi: 10.1186/s13148-016-0254-x. ...
- ... Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan;15(1):62-9. doi: 10.1038/ng0197-62. Citation ...
- ... mutations cause a condition called optic atrophy type 1 and deafness, ... coordination (ataxia), disturbances in the nerves used for muscle movement ...
- ... Suomalainen A, Spelbrink JN. Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function ...