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Results 1 - 10 of 21 for Dystonia 5
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. TIMM8A gene 
    ... Curran SP, Tranebjaerg L, Koehler CM. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet. 2002 Mar 1;11(5):477-86. doi: 10.1093/hmg/11.5. ...
    https://medlineplus.gov/genetics/gene/timm8a - Genetics
  8. SLC39A14 gene 
    ... the body is not well understood. At least five SLC39A14 gene mutations have been found to cause hypermanganesemia with dystonia 2, a condition that begins in early childhood ...
    https://medlineplus.gov/genetics/gene/slc39a14 - Genetics
  9. ATP1A3 gene 
    ... Ozelius LJ. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and ... 2008 Feb 7 [updated 2024 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
  10. PRKRA gene 
    ... of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a ... Front Biol (Beijing). 2014 Oct;9(5):382-388. doi: 10.1007/s11515-014-1325- ...
    https://medlineplus.gov/genetics/gene/prkra - Genetics
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