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Results 1 - 10 of 10 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. 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
  4. 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
  5. 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
  6. MT-ND1 gene 
    ... reported in a few cases of adult-onset dystonia. Dystonia is a movement disorder that involves involuntary tensing ... to increase the risk of developing adult-onset dystonia. mitochondrially encoded NADH dehydrogenase 1 MTND1 NADH dehydrogenase ...
    https://medlineplus.gov/genetics/gene/mt-nd1 - Genetics
  7. ARX gene 
    ... and a group of movement problems called focal dystonia that primarily affects the hands. The most common ... developing brain, leading to the intellectual disability and dystonia characteristic of Partington syndrome. More About This Health ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  8. MT-ND6 gene 
    ... hereditary optic neuropathy and a movement disorder called dystonia, which involves involuntary muscle contractions, tremors, and other ... of Leigh syndrome, Leber hereditary optic neuropathy, or dystonia. It also remains unclear why a single variant ...
    https://medlineplus.gov/genetics/gene/mt-nd6 - Genetics
  9. BTK gene 
    ... known as TIMM8A. Mutations in TIMM8A cause deafness-dystonia-optic neuronopathy (DDON) syndrome, which is characterized by ... in intellectual function (dementia), and involuntary muscle tensing (dystonia) or difficulty coordinating movements (ataxia). Individuals with large ...
    https://medlineplus.gov/genetics/gene/btk - Genetics
  10. RELN gene 
    ... Health Condition MedlinePlus Genetics provides information about Myoclonus-dystonia More About This Health Condition Studies have shown ... synapses in the adult brain. Neuroscience. 2011 Aug 25;189:32-42. doi: 10.1016/j.neuroscience. ...
    https://medlineplus.gov/genetics/gene/reln - Genetics