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Journal Abstract Search

126 related items for PubMed ID: 10984670

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. 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]

  • 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; 44(3):365-71. PubMed ID: 9749603
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia.
    Nishiyama N, Yukishita S, Hagiwara H, Kakimoto S, Nomura Y, Segawa M.
    Brain Dev; 2000 Sep 05; 22 Suppl 1():S102-6. PubMed ID: 10984668
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.
    Ichinose H, Ohye T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S, Fujita K, Nagatsu T.
    Neurosci Lett; 1995 Aug 18; 196(1-2):5-8. PubMed ID: 7501255
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  • 9.
    ; . PubMed ID:
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  • 10. [Segawa disease (hereditary progressive dystonia with marked diurnal fluctuation-HPD) and abnormalities in pteridin metabolism].
    Segawa M.
    Rinsho Shinkeigaku; 1996 Dec 18; 36(12):1322-3. PubMed ID: 9128393
    [Abstract] [Full Text] [Related]

  • 11. A new deletion in autosomal dominant guanosine triphosphate cyclohydrolase I deficiency gene--Segawa disease.
    Bianca S, Bianca M.
    J Neural Transm (Vienna); 2006 Feb 18; 113(2):159-62. PubMed ID: 15959854
    [Abstract] [Full Text] [Related]

  • 12. 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 18; 22 Suppl 1():S107-10. PubMed ID: 10984669
    [Abstract] [Full Text] [Related]

  • 13. 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 Sep 18; 94():217-23. PubMed ID: 14509676
    [No Abstract] [Full Text] [Related]

  • 14. Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
    Yum MS, Ko TS, Yoo HW, Chung SJ.
    Pediatr Neurol; 2008 May 18; 38(5):367-9. PubMed ID: 18410856
    [Abstract] [Full Text] [Related]

  • 15. Segawa disease with a novel heterozygous mutation in exon 5 of the GCH-1 gene (E183K).
    Ikeda T, Kanmura K, Kodama Y, Sawada K, Nunoi H, Hasegawa K.
    Brain Dev; 2009 Feb 18; 31(2):173-5. PubMed ID: 18621497
    [Abstract] [Full Text] [Related]

  • 16. 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 18; 50(4):1015-20. PubMed ID: 9566388
    [Abstract] [Full Text] [Related]

  • 17. 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 18; 108(8):784-6. PubMed ID: 16289769
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Growth hormone deficiency in a dopa-responsive dystonia patient with a novel mutation of guanosine triphosphate cyclohydrolase 1 gene.
    Lin Y, Wang DN, Chen WJ, Lin X, Lin MT, Wang N.
    J Child Neurol; 2015 May 15; 30(6):796-9. PubMed ID: 24939974
    [Abstract] [Full Text] [Related]

  • 20. 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]

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