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207 related items for PubMed ID: 10582612

  • 1. 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; 73(6):2510-6. PubMed ID: 10582612
    [Abstract] [Full Text] [Related]

  • 2. Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease.
    Ichinose H, Inagaki H, Suzuki T, Ohye T, Nagatsu T.
    Brain Dev; 2000 Sep; 22 Suppl 1():S107-10. PubMed ID: 10984669
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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; 105(3):226-30. PubMed ID: 10987649
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene.
    Furuya H, Murai H, Takasugi K, Ohyagi Y, Urano F, Kishi T, Ichinose H, Kira J.
    Clin Neurol Neurosurg; 2006 Dec; 108(8):784-6. PubMed ID: 16289769
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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; 50(4):1015-20. PubMed ID: 9566388
    [Abstract] [Full Text] [Related]

  • 9. 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; 39(5):609-17. PubMed ID: 8619546
    [Abstract] [Full Text] [Related]

  • 10. Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia.
    Ueno S, Hirano M.
    Brain Dev; 2000 Sep; 22 Suppl 1():S111-4. PubMed ID: 10984670
    [Abstract] [Full Text] [Related]

  • 11. Molecular genetics of dopa-responsive dystonia.
    Ichinose H, Suzuki T, Inagaki H, Ohye T, Nagatsu T.
    Biol Chem; 1999 Dec; 380(12):1355-64. PubMed ID: 10661862
    [Abstract] [Full Text] [Related]

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

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism.
    Nagatsu T, Ichinose H.
    Neurochem Res; 1996 Feb 15; 21(2):245-50. PubMed ID: 9182249
    [Abstract] [Full Text] [Related]

  • 15. [Molecular biology of hereditary dystonia].
    Nagatsu T, Ichinose H.
    No To Hattatsu; 1998 Mar 15; 30(2):93-100. PubMed ID: 9545771
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.
    Cai C, Shi W, Zeng Z, Zhang M, Ling C, Chen L, Cai C, Zhang B, Li WD.
    PLoS One; 2013 Oct 15; 8(6):e65215. PubMed ID: 23762320
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. A novel missense mutation of the GTP cyclohydrolase 1 gene in a Taiwanese family with dopa-responsive dystonia: A case report.
    Yang CC, Wang WC, Yeh TH, Chen TH, Liu YL, Lu MK, Lu CS, Tsai CH.
    Clin Neurol Neurosurg; 2018 Feb 19; 165():21-23. PubMed ID: 29289916
    [Abstract] [Full Text] [Related]

  • 20. 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]

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