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Results 1 - 10 of 37 for Dystonia 24
  1. 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. ...
    https://medlineplus.gov/.../condition/task-specific-focal-dystonia - Genetics
  2. TOR1A gene 
    ... protein processing through the secretory pathway in DYT1 dystonia cells. Proc Natl Acad Sci U S A. 2007 Apr 24;104(17):7271-6. doi: 10.1073/pnas. ... TorsinA protein and neuropathology in early onset generalized dystonia with ... Neurobiol Dis. 2003 Feb;12(1):11-24. doi: 10.1016/s0969-9961(02)00010-4. ...
    https://medlineplus.gov/genetics/gene/tor1a - Genetics
  3. Dopamine transporter deficiency syndrome 
    ... INFANTILE-ONSET; PKDYS1 PubMed Blackstone C. Infantile parkinsonism-dystonia due to dopamine transporter gene mutations: another genetic twist. Lancet Neurol. 2011 Jan;10(1):24-5. doi: 10.1016/S1474-4422(10)70280- ...
    https://medlineplus.gov/.../dopamine-transporter-deficiency-syndrome - Genetics
  4. Dopa-responsive dystonia 
    ... 1007/s10048-011-0279-4. Epub 2011 Mar 24. Citation on PubMed Asmus F, Gasser T. Dystonia-plus syndromes. Eur J Neurol. 2010 Jul;17 ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  5. Dystonia 6 
    ... Claustres M, Beroud C, Collod-Beroud G. DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. Hum Mutat. 2011 Nov;32(11):1213-24. doi: 10.1002/humu.21564. Epub 2011 Sep ...
    https://medlineplus.gov/genetics/condition/dystonia-6 - Genetics
  6. THAP1 gene 
    ... Claustres M, Beroud C, Collod-Beroud G. DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. Hum Mutat. 2011 Nov;32(11):1213-24. doi: 10.1002/humu.21564. Epub 2011 Sep ...
    https://medlineplus.gov/genetics/gene/thap1 - Genetics
  7. X-linked dystonia-parkinsonism 
    ... as aspiration pneumonia), or other complications. ... Philippines. The prevalence of the disorder is 5.24 per 100,000 people on the island of ...
    https://medlineplus.gov/.../condition/x-linked-dystonia-parkinsonism - Genetics
  8. Sepiapterin reductase deficiency 
    ... 1007/s10048-011-0279-4. Epub 2011 Mar 24. Citation on PubMed Blau N, Bonafe L, Thony B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab. 2001 ...
    https://medlineplus.gov/.../sepiapterin-reductase-deficiency - Genetics
  9. Movement - uncontrolled or slow 
    ... movements of muscles (athetosis) or jerky muscle contractions (dystonia) may be caused by one of many conditions, ... Practice . 8th ed. Philadelphia, PA: Elsevier; 2022:chap 24. Okun MS, Lang AE. Other movement disorders. In: ...
    https://medlineplus.gov/ency/article/003197.htm - Medical Encyclopedia
  10. GLUT1 deficiency syndrome 
    ... dystonia 9); paroxysmal exercise-induced dyskinesia and epilepsy (dystonia 18); and ... estimated at 1 in 24,000 newborns. However, researchers suggest that the disorder ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
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