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Results 1 - 10 of 12 for Dystonia 32
  1. Dopa-responsive dystonia 
    ... cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5). Chang Gung Med J. 2009 Jan-Feb;32(1):1-11. Citation on PubMed Stafford BM, ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  2. Deafness-dystonia-optic neuronopathy syndrome 
    ... new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet. 1995 Apr;32(4):257-63. doi: 10.1136/jmg.32. ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
  3. Dystonia 6 
    ... Claustres M, Beroud C, Collod-Beroud G. DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. Hum Mutat. 2011 Nov;32(11):1213-24. doi: 10.1002/humu.21564. ...
    https://medlineplus.gov/genetics/condition/dystonia-6 - Genetics
  4. Sepiapterin reductase deficiency 
    ... biopterin metabolism. J Inherit Metab Dis. 2009 Jun;32(3):333-42. doi: 10.1007/s10545-009- ... Erratum In: J Inherit Metab Dis. 2009 Jun;32(3):457. Citation on PubMed Neville BG, Parascandalo ...
    https://medlineplus.gov/.../sepiapterin-reductase-deficiency - Genetics
  5. Succinate-CoA ligase deficiency 
    ... depletion syndromes. J Inherit Metab Dis. 2009 Apr;32(2):143-58. doi: 10.1007/s10545-008- ...
    https://medlineplus.gov/.../succinate-coa-ligase-deficiency - Genetics
  6. Pelizaeus-Merzbacher disease 
    ... disease. Neurosci Lett. 2016 Aug 3;627:222-32. doi: 10.1016/j.neulet.2016.05.028. ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
  7. Familial paroxysmal nonkinesigenic dyskinesia 
    ... Mol Genet. 2011 Jun 15;20(12):2322-32. doi: 10.1093/hmg/ddr125. Epub 2011 Apr ...
    https://medlineplus.gov/...lial-paroxysmal-nonkinesigenic-dyskinesia - Genetics
  8. Aicardi-Goutières syndrome 
    ... response. Nat Genet. 2009 Jul;41(7):829-32. doi: 10.1038/ng.373. Epub 2009 Jun ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  9. Niemann-Pick disease 
    ... trials. Neurology. 2006 Jan 24;66(2):228-32. doi: 10.1212/01.wnl.0000194208.08904.0c. ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  10. Pelizaeus-Merzbacher-like disease type 1 
    ... and related hypomyelinating disorders. Semin Neurol. 2012 Feb;32(1):62-7. doi: 10.1055/s-0032- ...
    https://medlineplus.gov/.../pelizaeus-merzbacher-like-disease-type-1 - Genetics
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