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Journal Abstract Search

146 related items for PubMed ID: 9921872

  • 1. Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia.
    Hirano M, Ueno S.
    Neurology; 1999 Jan 01; 52(1):182-4. PubMed ID: 9921872
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia.
    Hirano M, Yanagihara T, Ueno S.
    Ann Neurol; 1998 Sep 05; 44(3):365-71. PubMed ID: 9749603
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  • 4. Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.
    Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R, Lillquist YP, Connolly M, Hyland K, Blau N, Rupar T, Waters PJ.
    Mol Genet Metab; 2008 May 05; 94(1):127-31. PubMed ID: 18276179
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  • 5. Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.
    Hwu WL, Wang PJ, Hsiao KJ, Wang TR, Chiou YW, Lee YM.
    Hum Genet; 1999 Sep 05; 105(3):226-30. PubMed ID: 10987649
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  • 6. Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia.
    Ueno S, Hirano M.
    Brain Dev; 2000 Sep 05; 22 Suppl 1():S111-4. PubMed ID: 10984670
    [Abstract] [Full Text] [Related]

  • 7. [Autosomal-dominant DOPA-responsive dystonia, caused by mutations in the GTP-cyclohydrolase I gene].
    Nagatsu T, Ichinose H.
    Vopr Med Khim; 1998 Sep 05; 44(3):225-8. PubMed ID: 9703621
    [Abstract] [Full Text] [Related]

  • 8. Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
    Kikuchi A, Takeda A, Fujihara K, Kimpara T, Shiga Y, Tanji H, Nagai M, Ichinose H, Urano F, Okamura N, Arai H, Itoyama Y.
    Mov Disord; 2004 May 05; 19(5):590-3. PubMed ID: 15133828
    [Abstract] [Full Text] [Related]

  • 9. Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia.
    Suzuki T, Ohye T, Inagaki H, Nagatsu T, Ichinose H.
    J Neurochem; 1999 Dec 05; 73(6):2510-6. PubMed ID: 10582612
    [Abstract] [Full Text] [Related]

  • 10. 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 05; 65(4B):1224-7. PubMed ID: 18345435
    [Abstract] [Full Text] [Related]

  • 11. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia.
    Furukawa Y, Lang AE, Trugman JM, Bird TD, Hunter A, Sadeh M, Tagawa T, St George-Hyslop PH, Guttman M, Morris LW, Hornykiewicz O, Shimadzu M, Kish SJ.
    Neurology; 1998 Apr 05; 50(4):1015-20. PubMed ID: 9566388
    [Abstract] [Full Text] [Related]

  • 12. Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.
    Leuzzi V, Carducci C, Carducci C, Cardona F, Artiola C, Antonozzi I.
    Neurology; 2002 Oct 22; 59(8):1241-3. PubMed ID: 12391354
    [Abstract] [Full Text] [Related]

  • 13. Molecular genetics of hereditary dystonia--mutations in the GTP cyclohydrolase I gene.
    Ichinose H, Nagatsu T.
    Brain Res Bull; 1997 Oct 22; 43(1):35-8. PubMed ID: 9205791
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  • 18. [Molecular biology of hereditary dystonia].
    Nagatsu T, Ichinose H.
    No To Hattatsu; 1998 Mar 22; 30(2):93-100. PubMed ID: 9545771
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  • 20. The GTP cyclohydrolase I gene in Russian families with dopa-responsive dystonia.
    Illarioshkin SN, Markova ED, Slominsky PA, Miklina NI, Popova SN, Limborska SA, Tsuji S, Ivanova-Smolenskaya IA.
    Arch Neurol; 1998 Jun 22; 55(6):789-92. PubMed ID: 9626769
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