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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. Friedreich's Ataxia (FA) (Muscular Dystrophy Association)  
    Friedreich Ataxia/Start Here ... Friedreich Ataxia ... Muscular Dystrophy Association ... MDA is the #1 health nonprofit advancing research, care and advocacy for people ...
    https://www.mda.org/disease/friedreichs-ataxia - External Health Links
  5. Ataxia-pancytopenia syndrome 
    ... leukemia. SAMD9L ... PubMed Chen DH, Below JE, Shimamura A, ...
    https://medlineplus.gov/.../condition/ataxia-pancytopenia-syndrome - Genetics
  6. 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
  7. 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
  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. 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
  10. PRICKLE1-related progressive myoclonus epilepsy with ataxia 
    ... cases of PRICKLE1-related progressive myoclonus epilepsy with ataxia are considered autosomal dominant because one copy of the altered gene in ... A, Richter A, Leshinsky E, Berkovic SF. An autosomal recessive cerebellar ataxia ... Neurology. 2005 Jan 11;64(1):142-4. doi: 10.1212/01.WNL.0000148600. ...
    https://medlineplus.gov/...rogressive-myoclonus-epilepsy-with-ataxia - Genetics
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