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Journal Abstract Search

335 related items for PubMed ID: 8619546

  • 1. 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
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  • 3. [Significance of CSF biopterin and neopterin in hereditary progressive dystonia with marked diurnal fluctuation (HPD)--a clue to pathogenesis].
    Furukawa Y, Nishi K, Mizuno Y, Narabayashi H.
    No To Shinkei; 1995 Mar; 47(3):261-8. PubMed ID: 7669428
    [Abstract] [Full Text] [Related]

  • 4. 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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  • 5. Molecular genetics of dopa-responsive dystonia.
    Ichinose H, Suzuki T, Inagaki H, Ohye T, Nagatsu T.
    Biol Chem; 1999 Dec 15; 380(12):1355-64. PubMed ID: 10661862
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  • 6. 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 15; 8(3):236-42. PubMed ID: 7874165
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  • 7. [Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Jan 15; 46(1):19-34. PubMed ID: 16541791
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  • 8. 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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  • 9. GTP cyclohydrolase I gene, dystonia, juvenile parkinsonism, and Parkinson's disease.
    Nagatsu T, Ichinose H.
    J Neural Transm Suppl; 1997 May 19; 49():203-9. PubMed ID: 9266429
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  • 10. 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 19; 64(4):469-73. PubMed ID: 9576537
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  • 11. [Segawa disease (hereditary progressive dystonia with marked diurnal fluctuation-HPD) and abnormalities in pteridin metabolism].
    Segawa M.
    Rinsho Shinkeigaku; 1996 Dec 19; 36(12):1322-3. PubMed ID: 9128393
    [Abstract] [Full Text] [Related]

  • 12. 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 19; 108(8):784-6. PubMed ID: 16289769
    [Abstract] [Full Text] [Related]

  • 13. 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 19; 44(4):649-56. PubMed ID: 9778264
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  • 14. Dopamine transporter density measured by [123I]beta-CIT single-photon emission computed tomography is normal in dopa-responsive dystonia.
    Jeon BS, Jeong JM, Park SS, Kim JM, Chang YS, Song HC, Kim KM, Yoon KY, Lee MC, Lee SB.
    Ann Neurol; 1998 Jun 19; 43(6):792-800. PubMed ID: 9629849
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  • 15. [The relation between metabolism of biopterin and dystonia-parkinsonism].
    Ichinose H, Ohye T, Suzuki T, Inagaki H, Nagatsu T.
    Nihon Shinkei Seishin Yakurigaku Zasshi; 1999 Apr 19; 19(2):85-9. PubMed ID: 10464780
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  • 17. 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 Apr 19; 94():217-23. PubMed ID: 14509676
    [No Abstract] [Full Text] [Related]

  • 18. 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 19; 47(4):517-20. PubMed ID: 10762165
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  • 19. 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 19; 40(5):796-8. PubMed ID: 8957022
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