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Results 1 - 10 of 27 for Dystonia 25
  1. TOR1A gene 
    ... binding in non-manifesting carriers of the DYT1 dystonia mutation. Neurology. 2005 Jan 25;64(2):347-9. doi: 10.1212/01. ... association of the TOR1A locus with segmental/focal dystonia. Mov Disord. 2010 Oct 15;25(13):2183-7. doi: 10.1002/mds.23225. ...
    https://medlineplus.gov/genetics/gene/tor1a - Genetics
  2. ALS2 gene 
    ... ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology. 2014 Mar 25;82(12):1065-7. doi: 10.1212/WNL. ...
    https://medlineplus.gov/genetics/gene/als2 - Genetics
  3. Early-onset isolated dystonia 
    ... Rothwell J, Jankovic J, Vidailhet M, Bhatia KP. Dystonia. Nat Rev Dis Primers. 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6. Erratum In: Nat Rev Dis Primers. 2018 Oct 19;4(1):37. Citation on PubMed ... Sharma N. Molecular pathways in dystonia. Neurobiol Dis. 2011 May;42(2):136-47. ...
    https://medlineplus.gov/.../condition/early-onset-isolated-dystonia - Genetics
  4. Dystonia 6 
    ... SR, Zhao Y. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. Parkinsonism Relat Disord. 2012 Jun;18(5):414-25. doi: 10.1016/j.parkreldis.2012.02.001. ...
    https://medlineplus.gov/genetics/condition/dystonia-6 - Genetics
  5. THAP1 gene 
    ... SR, Zhao Y. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. Parkinsonism Relat Disord. 2012 Jun;18(5):414-25. doi: 10.1016/j.parkreldis.2012.02.001. ...
    https://medlineplus.gov/genetics/gene/thap1 - Genetics
  6. Dopamine transporter deficiency syndrome 
    ... S1474-4422(10)70280-5. Epub 2010 Nov 25. No abstract available. Citation on PubMed Blackstone C. Infantile parkinsonism-dystonia: a dopamine "transportopathy". J Clin Invest. 2009 Jun; ...
    https://medlineplus.gov/.../dopamine-transporter-deficiency-syndrome - Genetics
  7. Task-specific focal dystonia 
    ... Embouchure dystonia--Portrait of a task-specific cranial dystonia. Mov Disord. 2009 Sep 15;24(12):1752-62. doi: 10.1002/mds.22550. Citation on PubMed Hallett M. Pathophysiology of writer's cramp. Hum Mov Sci. 2006 Oct;25(4-5):454-63. doi: 10.1016/j. ...
    https://medlineplus.gov/.../condition/task-specific-focal-dystonia - Genetics
  8. Pantothenate kinase-associated neurodegeneration 
    ... Hallervorden-Spatz syndromes are allelic. Neurology. 2003 Nov 25;61(10):1423-6. doi: 10.1212/01. ...
    https://medlineplus.gov/...enate-kinase-associated-neurodegeneration - Genetics
  9. SLC6A3 gene 
    ... S1474-4422(10)70269-6. Epub 2010 Nov 25. Citation on PubMed or Free article on ... with infantile parkinsonism-dystonia. J Clin Invest. 2009 Jun;119(6):1595- ...
    https://medlineplus.gov/genetics/gene/slc6a3 - Genetics
  10. SLC39A14 gene 
    ... mutations have been found to cause hypermanganesemia with dystonia 2, a condition that begins in early childhood ... and brain (hypermanganesemia), involuntary tensing of the muscles (dystonia), and other movement problems. These mutations impair the ...
    https://medlineplus.gov/genetics/gene/slc39a14 - Genetics
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