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Journal Abstract Search

155 related items for PubMed ID: 9749603

  • 1. Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia.
    Hirano M, Yanagihara T, Ueno S.
    Ann Neurol; 1998 Sep; 44(3):365-71. PubMed ID: 9749603
    [Abstract] [Full Text] [Related]

  • 2. Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia.
    Hirano M, Tamaru Y, Nagai Y, Ito H, Imai T, Ueno S.
    Biochem Biophys Res Commun; 1995 Aug 15; 213(2):645-51. PubMed ID: 7544125
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  • 3. Dopa-responsive dystonia is induced by a dominant-negative mechanism.
    Hwu WL, Chiou YW, Lai SY, Lee YM.
    Ann Neurol; 2000 Oct 15; 48(4):609-13. PubMed ID: 11026444
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  • 4. [Segawa disease (hereditary progressive dystonia with marked diurnal fluctuation-HPD) and abnormalities in pteridin metabolism].
    Segawa M.
    Rinsho Shinkeigaku; 1996 Dec 15; 36(12):1322-3. PubMed ID: 9128393
    [Abstract] [Full Text] [Related]

  • 5. Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset.
    Hirano M, Tamaru Y, Ito H, Matsumoto S, Imai T, Ueno S.
    Ann Neurol; 1996 Nov 15; 40(5):796-8. PubMed ID: 8957022
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  • 6. A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia.
    Hirano M, Komure O, Ueno S.
    Neurosci Lett; 1999 Feb 05; 260(3):181-4. PubMed ID: 10076897
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  • 7. Dopa-responsive dystonia: a clinical and molecular genetic study.
    Bandmann O, Valente EM, Holmans P, Surtees RA, Walters JH, Wevers RA, Marsden CD, Wood NW.
    Ann Neurol; 1998 Oct 05; 44(4):649-56. PubMed ID: 9778264
    [Abstract] [Full Text] [Related]

  • 8. Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene?
    Segawa M, Nomura Y, Yukishita S, Nishiyama N, Yokochi M.
    Adv Neurol; 2004 Oct 05; 94():217-23. PubMed ID: 14509676
    [No Abstract] [Full Text] [Related]

  • 9. [Hereditary progressive dystonia with marked diurnal fluctuation--clinical features and GTP cyclohydrolase I gene mutations].
    Tamaru Y, Ito H, Imai T, Hirano M, Ueno S.
    Nihon Rinsho; 1997 Jan 05; 55(1):135-8. PubMed ID: 9014437
    [Abstract] [Full Text] [Related]

  • 10. Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystonia.
    Hwu WL, Lu MY, Hwa KY, Fan SW, Lee YM.
    Ann Neurol; 2004 Jun 05; 55(6):875-8. PubMed ID: 15174023
    [Abstract] [Full Text] [Related]

  • 11. GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia.
    Furukawa Y, Shimadzu M, Rajput AH, Shimizu Y, Tagawa T, Mori H, Yokochi M, Narabayashi H, Hornykiewicz O, Mizuno Y, Kish SJ.
    Ann Neurol; 1996 May 05; 39(5):609-17. PubMed ID: 8619546
    [Abstract] [Full Text] [Related]

  • 12. Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia.
    Hirano M, Imaiso Y, Ueno S.
    Biochem Biophys Res Commun; 1997 May 19; 234(2):316-9. PubMed ID: 9177267
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  • 15. Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia.
    Ueno S, Hirano M.
    Brain Dev; 2000 Sep 19; 22 Suppl 1():S111-4. PubMed ID: 10984670
    [Abstract] [Full Text] [Related]

  • 16. 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 19; 8(3):236-42. PubMed ID: 7874165
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