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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. ...
- ... 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 ...
- ... leukemia. SAMD9L ... PubMed Chen DH, Below JE, Shimamura A, ...
- ... FGF14 SCN2A ... Testing Registry: Episodic ataxia type 1 Genetic Testing Registry: Episodic ataxia type 2 Genetic ...
- ... mutations cause a condition called optic atrophy type 1 and deafness, ... coordination (ataxia), disturbances in the nerves used for muscle movement ...
- ... X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX4 CHARCOT-MARIE-TOOTH ... 1, AUTOSOMAL RECESSIVE; CHN1 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; ...
- ... Registry: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Genetic Testing Registry: Progressive external ophthalmoplegia with mitochondrial ...
- ... L, Riess O. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol. 2003 Sep;54(3):367- ...
- ... involved is unknown. RANBP2 Acute necrotizing encephalopathy type 1 is inherited in an autosomal dominant pattern, which means one copy of the altered ...