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Results 1 - 10 of 98 for Dystonia 5
  1. Dopa-responsive dystonia 
    ... commonly, an autosomal dominant pattern of inheritance. DRD Dystonia 5, dopa-responsive type Hereditary progressive dystonia with marked ... due to sepiapterin reductase deficiency Genetic Testing Registry: Dystonia 5 Genetic Testing Registry: Autosomal recessive DOPA responsive dystonia ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  2. GCH1 gene 
    ... cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5). Chang Gung Med J. 2009 Jan- ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  3. TUBB4A gene 
    ... cause hypomyelination like other TUBB4A gene mutations. beta-5 dystonia 4, torsion (autosomal dominant) DYT4 TUBB4 tubulin beta-4 chain tubulin beta-4A chain isoform 1 tubulin beta-4A chain isoform 2 tubulin beta-4A chain isoform 3 tubulin beta-4A chain isoform 4 tubulin, beta 4 tubulin, beta, 5 ... PubMed TUBULIN, BETA-4A; TUBB4A ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  4. SPR gene 
    ... gene (SPR) in a patient with dopa-responsive dystonia. Neurogenetics. 2004 Sep;5(3):187-90. doi: 10.1007/s10048-004- ...
    https://medlineplus.gov/genetics/gene/spr - Genetics
  5. Dystonia Medical Research Foundation (Dystonia Medical Research Foundation)  
    ... In addition to the 8th Annual Twin Cities Dystonia Zoo Day on Oct. 5, volunteers in Rochester, NY will be hosting their first-ever Dystonia Zoo Day on Oct. 25. The Read More » ...
    https://dystonia-foundation.org - Other Resources
  6. Dystonia 6 
    ... R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol. 2009 May;8(5):441-6. doi: 10.1016/S1474-4422(09) ... Klein C. Mutations in THAP1 (DYT6) and generalised dystonia with prominent ... study. Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09) ...
    https://medlineplus.gov/genetics/condition/dystonia-6 - Genetics
  7. THAP1 gene 
    ... R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol. 2009 May;8(5):441-6. doi: 10.1016/S1474-4422(09) ... Klein C. Mutations in THAP1 (DYT6) and generalised dystonia with prominent ... study. Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09) ...
    https://medlineplus.gov/genetics/gene/thap1 - Genetics
  8. Infantile neuroaxonal dystrophy 
    ... mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. PLoS One. 2010 Sep 23;5(9):e12897. doi: 10.1371/journal.pone.0012897. ...
    https://medlineplus.gov/.../infantile-neuroaxonal-dystrophy - Genetics
  9. PLA2G6 gene 
    ... mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. PLoS One. 2010 Sep 23;5(9):e12897. doi: 10.1371/journal.pone.0012897. ...
    https://medlineplus.gov/genetics/gene/pla2g6 - Genetics
  10. FA2H gene 
    ... are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet. 2008 Nov;83(5):643-8. doi: 10.1016/j.ajhg.2008. ...
    https://medlineplus.gov/genetics/gene/fa2h - Genetics
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