Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 100 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 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
  6. 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
  7. 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
  8. 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
  9. Fatty acid hydroxylase-associated neurodegeneration 
    ... 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/...-hydroxylase-associated-neurodegeneration - 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
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next