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Journal Abstract Search

178 related items for PubMed ID: 11026444

  • 1. Dopa-responsive dystonia is induced by a dominant-negative mechanism.
    Hwu WL, Chiou YW, Lai SY, Lee YM.
    Ann Neurol; 2000 Oct; 48(4):609-13. PubMed ID: 11026444
    [Abstract] [Full Text] [Related]

  • 2. 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; 55(6):875-8. PubMed ID: 15174023
    [Abstract] [Full Text] [Related]

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

  • 4. 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]

  • 5. 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; 44(4):649-56. PubMed ID: 9778264
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation.
    Uncini A, De Angelis MV, Di Fulvio P, Ragno M, Annesi G, Filla A, Stuppia L, Gambi D.
    Mov Disord; 2004 Oct; 19(10):1139-45. PubMed ID: 15390021
    [Abstract] [Full Text] [Related]

  • 9. Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5).
    Segawa M.
    Chang Gung Med J; 2009 Oct; 32(1):1-11. PubMed ID: 19292934
    [Abstract] [Full Text] [Related]

  • 10. [Molecular genetics of hereditary progressive dystonia (HPD/Segawa's disease)].
    Ichinose H, Nagatsu T.
    Nihon Rinsho; 1996 May; 54(5):1453-9. PubMed ID: 8965384
    [Abstract] [Full Text] [Related]

  • 11. Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene.
    Furukawa Y, Guttman M, Sparagana SP, Trugman JM, Hyland K, Wyatt P, Lang AE, Rouleau GA, Shimadzu M, Kish SJ.
    Ann Neurol; 2000 Apr; 47(4):517-20. PubMed ID: 10762165
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
    Segawa M, Nomura Y, Nishiyama N.
    Ann Neurol; 2003 Feb 05; 54 Suppl 6():S32-45. PubMed ID: 12891652
    [Abstract] [Full Text] [Related]

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  • 15. 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 Feb 05; 94():217-23. PubMed ID: 14509676
    [No Abstract] [Full Text] [Related]

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  • 17. 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
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  • 20. [Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Jan 05; 46(1):19-34. PubMed ID: 16541791
    [Abstract] [Full Text] [Related]

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