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Results 1 - 10 of 47 for Autosomal dominant sensory ataxia 1
  1. DNMT1 gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/dnmt1 - Genetics
  2. Autosomal dominant cerebellar ataxia, deafness, and narcolepsy 
    ... 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. ...
    https://medlineplus.gov/...cerebellar-ataxia-deafness-and-narcolepsy - Genetics
  3. CACNA1A gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  4. Ataxia-pancytopenia syndrome 
    ... leukemia. SAMD9L ... PubMed Chen DH, Below JE, Shimamura A, ...
    https://medlineplus.gov/.../condition/ataxia-pancytopenia-syndrome - Genetics
  5. Episodic ataxia 
    ... FGF14 SCN2A ... Testing Registry: Episodic ataxia type 1 Genetic Testing Registry: Episodic ataxia type 2 Genetic ...
    https://medlineplus.gov/genetics/condition/episodic-ataxia - Genetics
  6. OPA1 gene 
    ... mutations cause a condition called optic atrophy type 1 and deafness, ... coordination (ataxia), disturbances in the nerves used for muscle movement ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  7. Charcot-Marie-Tooth disease 
    ... X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX4 CHARCOT-MARIE-TOOTH ... 1, AUTOSOMAL RECESSIVE; CHN1 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  8. Progressive external ophthalmoplegia 
    ... Registry: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Genetic Testing Registry: Progressive external ophthalmoplegia with mitochondrial ...
    https://medlineplus.gov/.../progressive-external-ophthalmoplegia - Genetics
  9. TBP gene 
    ... L, Riess O. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol. 2003 Sep;54(3):367- ...
    https://medlineplus.gov/genetics/gene/tbp - Genetics
  10. Acute necrotizing encephalopathy type 1 
    ... involved is unknown. RANBP2 Acute necrotizing encephalopathy type 1 is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../acute-necrotizing-encephalopathy-type-1 - Genetics
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