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Results 1 - 10 of 24 for Dystonia 1
  1. TOR1A gene 
    ... onset dystonias. More About This Health Condition DQ2 Dystonia 1 protein dystonia 1, torsion (autosomal dominant; torsinA) DYT1 TOR1A_HUMAN torsin ... TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol Dis. 2003 Feb;12(1):11-24. doi: 10.1016/s0969-9961(02) ...
    https://medlineplus.gov/genetics/gene/tor1a - Genetics
  2. SLC30A10 gene 
    ... and cirrhosis (HMDPC, also known as hypermanganesemia with dystonia 1). This inherited disorder is characterized by high levels ... PT, Gospe SM Jr, Mills PB. Hypermanganesemia with Dystonia 1. 2012 Aug 30 [updated 2021 Dec 23]. In: ...
    https://medlineplus.gov/genetics/gene/slc30a10 - Genetics
  3. TIMM8A gene 
    ... Rapaport D. Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology. Hum Mol Genet. 2012 Jan ... Curran SP, Tranebjaerg L, Koehler CM. Human deafness dystonia syndrome is caused by ... complex. Hum Mol Genet. 2002 Mar 1;11(5):477-86. doi: 10.1093/hmg/ ...
    https://medlineplus.gov/genetics/gene/timm8a - Genetics
  4. GCH1 gene 
    ... Condition DYT5 DYT5a GCH GCH1_HUMAN GTP cyclohydrolase 1 (dopa-responsive dystonia) GTPCH1 Tests of GCH1 PubMed GTP CYCLOHYDROLASE I; ... M. Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5). Chang Gung Med J. 2009 ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  5. ATP1A3 gene 
    ... sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. Hum Mol Genet. 2009 Jul 1;18(13):2370-7. doi: 10.1093/hmg/ ... in a new sporadic case of rapid-onset dystonia-parkinsonism. J Neurol Sci. 2008 Oct 15;273(1-2):148-51. doi: 10.1016/j.jns. ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
  6. MT-ND1 gene 
    ... to increase the risk of developing adult-onset dystonia. mitochondrially encoded NADH dehydrogenase 1 MTND1 NADH dehydrogenase 1 NADH dehydrogenase subunit 1 ...
    https://medlineplus.gov/genetics/gene/mt-nd1 - Genetics
  7. THAP1 gene 
    ... R, Hadjigeorgiou GM, Bhatia KP. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord. 2012 Sep 1;27(10):1290-4. doi: 10.1002/mds. ...
    https://medlineplus.gov/genetics/gene/thap1 - Genetics
  8. SPR gene 
    ... Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Mol Genet Metab. 2006 Sep-Oct;89(1-2):116-20. doi: 10.1016/j.ymgme. ...
    https://medlineplus.gov/genetics/gene/spr - Genetics
  9. ARX gene 
    ... mental retardation with infantile epilepsy and/or hand dystonia. Am J Med Genet A. 2011 Jan;155A(1):98-105. doi: 10.1002/ajmg.a.33785. ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  10. SGCE gene 
    ... F, Ciano C, Ghezzi D, Garavaglia B. Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. Mov Disord. 2008 Jan;23(1):28-34. doi: 10.1002/mds.21715. Citation ...
    https://medlineplus.gov/genetics/gene/sgce - Genetics
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