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Journal Abstract Search

246 related items for PubMed ID: 17044972

  • 1. [Clinical analysis of dopa-responsive dystonia and mutation analysis of the GCH I gene].
    Xie H, Wu ZY, Wang N, Li ZW, Lin MT, Murong SX.
    Zhonghua Er Ke Za Zhi; 2006 Jul; 44(7):492-5. PubMed ID: 17044972
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  • 4. [Dopa-responsive dystonia].
    Durić G, Svetel M, Dzoljić E, Kostić V.
    Vojnosanit Pregl; 2009 Jan; 66(1):29-34. PubMed ID: 19195260
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  • 6. Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia.
    Lee JY, Yang HJ, Kim JM, Jeon BS.
    Parkinsonism Relat Disord; 2013 Dec; 19(12):1156-9. PubMed ID: 24018121
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  • 7. A novel missense mutation of the GTP cyclohydrolase I gene in a Korean family with hereditary progressive dystonia/dopa-responsive dystonia.
    Kang JH, Kang SY, Kang HK, Koh YS, Im JH, Lee MC.
    Brain Dev; 2004 Aug; 26(5):287-91. PubMed ID: 15165667
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  • 10. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.
    Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S.
    Nat Genet; 1994 Nov; 8(3):236-42. PubMed ID: 7874165
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  • 11. A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia.
    Scola RH, Carducci C, Amaral VG, Lorenzoni PJ, Teive HA, Giovanniello T, Werneck LC.
    Arq Neuropsiquiatr; 2007 Dec; 65(4B):1224-7. PubMed ID: 18345435
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  • 14. Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.
    Wu ZY, Lin Y, Chen WJ, Zhao GX, Xie H, Murong SX, Wang N.
    Clin Genet; 2008 Dec; 74(6):513-21. PubMed ID: 18554280
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  • 15. Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene.
    Tamaru Y, Hirano M, Ito H, Kawamura J, Matsumoto S, Imai T, Ueno S.
    J Neurol Neurosurg Psychiatry; 1998 Apr; 64(4):469-73. PubMed ID: 9576537
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  • 16. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.
    Bandmann O, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE.
    Hum Mol Genet; 1996 Mar; 5(3):403-6. PubMed ID: 8852666
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  • 20. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.
    Furukawa Y, Kish SJ, Bebin EM, Jacobson RD, Fryburg JS, Wilson WG, Shimadzu M, Hyland K, Trugman JM.
    Ann Neurol; 1998 Jul; 44(1):10-6. PubMed ID: 9667588
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