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Results 1 - 10 of 19 for Dystonia 9
  1. THAP1 gene 
    ... DYT6) are an additional cause of early-onset dystonia. Neurology. 2010 Mar 9;74(10):846-50. doi: 10.1212/WNL.0b013e3181d5276d. Citation on PubMed or Free article on PubMed Central ... dystonia: molecular foundations and description of new cases. Parkinsonism ...
    https://medlineplus.gov/genetics/gene/thap1 - Genetics
  2. TOR1A gene 
    ... Hanson PI, Standaert DG. The pathophysiological basis of dystonias. Nat Rev Neurosci. 2008 Mar;9(3):222-34. doi: 10.1038/nrn2337. Citation on PubMed Domingo A, Yadav R, Ozelius LJ. Isolated dystonia: clinical and genetic updates. J Neural Transm (Vienna). ...
    https://medlineplus.gov/genetics/gene/tor1a - Genetics
  3. 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. Citation ...
    https://medlineplus.gov/genetics/gene/pla2g6 - Genetics
  4. SLC30A10 gene 
    ... Bonifati V. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet. 2012 Mar 9;90(3):467-77. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/slc30a10 - Genetics
  5. PRKRA gene 
    ... of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in ... Front Biol (Beijing). 2014 Oct;9(5):382-388. doi: 10.1007/s11515-014- ...
    https://medlineplus.gov/genetics/gene/prkra - Genetics
  6. GCH1 gene 
    ... 1007/s10545-009-1067-2. Epub 2009 Feb 9. Erratum In: J Inherit Metab Dis. 2009 Jun;32(3):457. Citation on PubMed Muller U, Steinberger D, Topka H. Mutations of GCH1 in Dopa-responsive dystonia. J Neural Transm (Vienna). 2002 Mar;109(3): ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  7. ALS2 gene 
    ... j.ejpn.2013.09.009. Epub 2013 Oct 9. Citation on PubMed Sheerin UM, Schneider SA, Carr L, Deuschl G, Hopfner F, Stamelou M, Wood NW, Bhatia KP. ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology. 2014 Mar 25;82(12):1065-7. ...
    https://medlineplus.gov/genetics/gene/als2 - Genetics
  8. SPR gene 
    ... 1007/s10545-009-1067-2. Epub 2009 Feb 9. Erratum In: J Inherit Metab Dis. 2009 ... with dopa-responsive dystonia. Neurogenetics. 2004 Sep;5(3):187-90. doi: ...
    https://medlineplus.gov/genetics/gene/spr - Genetics
  9. MT-ND1 gene 
    ... J Med Genet. 2006 Feb;43(2):175-9. doi: 10.1136/jmg.2005.032474. Epub 2005 Jun ... mutation in adult-onset dystonia. Neurogenetics. 2003 Aug;4(4):199-205. doi: ...
    https://medlineplus.gov/genetics/gene/mt-nd1 - Genetics
  10. ATP1A3 gene 
    ... gene-identification study. Lancet Neurol. 2012 Sep;11(9):764-73. doi: ... case of rapid-onset dystonia-parkinsonism. J Neurol Sci. 2008 Oct 15;273( ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
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