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Results 1 - 10 of 42 for Dystonia 27
  1. Hypermanganesemia with dystonia 
    ... disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. Citation on ...
    https://medlineplus.gov/.../hypermanganesemia-with-dystonia - Genetics
  2. SLC39A14 gene 
    ... disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. Citation on ...
    https://medlineplus.gov/genetics/gene/slc39a14 - Genetics
  3. Dystonia 6 
    ... 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.25146. ...
    https://medlineplus.gov/genetics/condition/dystonia-6 - Genetics
  4. 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.25146. ...
    https://medlineplus.gov/genetics/gene/thap1 - Genetics
  5. TIMM8A gene 
    ... Tranebjaerg L, Fung VS. The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. Mov Disord. 2012 Jul;27(8):1034-40. doi: 10.1002/mds.25033. ...
    https://medlineplus.gov/genetics/gene/timm8a - Genetics
  6. Deafness-dystonia-optic neuronopathy syndrome 
    ... Tranebjaerg L, Fung VS. The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. Mov Disord. 2012 Jul;27(8):1034-40. doi: 10.1002/mds.25033. ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
  7. ATP1A3 gene 
    ... Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms. J Biol Chem. 2006 Jul 7;281(27):18539-48. doi: 10.1074/jbc.M601780200. Epub ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
  8. ADCY5-related dyskinesia 
    ... mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord. 2015 Mar;30(3):423-7. doi: 10.1002/mds.26115. Epub 2014 Dec 27. Citation on PubMed Chen DH, Meneret A, Friedman ...
    https://medlineplus.gov/genetics/condition/adcy5-related-dyskinesia - Genetics
  9. ADCY5 gene 
    ... mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord. 2015 Mar;30(3):423-7. doi: 10.1002/mds.26115. Epub 2014 Dec 27. Citation on PubMed Chen DH, Meneret A, Friedman ...
    https://medlineplus.gov/genetics/gene/adcy5 - Genetics
  10. TOR1A gene 
    ... PubMed Domingo A, Yadav R, Ozelius LJ. Isolated dystonia: clinical and genetic updates. J Neural Transm (Vienna). 2021 Apr;128(4):405-416. doi: 10.1007/s00702-020-02268-x. Epub 2020 Nov 27. Citation on PubMed Gomez-Garre P, Jesus S, ...
    https://medlineplus.gov/genetics/gene/tor1a - Genetics
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