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Journal Abstract Search

217 related items for PubMed ID: 11930268

  • 1. Dopa-responsive dystonia -- the story so far.
    Bandmann O, Wood NW.
    Neuropediatrics; 2002 Feb; 33(1):1-5. PubMed ID: 11930268
    [Abstract] [Full Text] [Related]

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

  • 3. [Dopa-responsive dystonia].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Nov; 46(11):769-73. PubMed ID: 17432176
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. 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]

  • 7. Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia.
    Furukawa Y, Nygaard TG, Gütlich M, Rajput AH, Pifl C, DiStefano L, Chang LJ, Price K, Shimadzu M, Hornykiewicz O, Haycock JW, Kish SJ.
    Neurology; 1999 Sep 22; 53(5):1032-41. PubMed ID: 10496263
    [Abstract] [Full Text] [Related]

  • 8. [Autosomal-dominant DOPA-responsive dystonia, caused by mutations in the GTP-cyclohydrolase I gene].
    Nagatsu T, Ichinose H.
    Vopr Med Khim; 1998 Sep 22; 44(3):225-8. PubMed ID: 9703621
    [Abstract] [Full Text] [Related]

  • 9. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
    Hoffmann GF, Assmann B, Bräutigam C, Dionisi-Vici C, Häussler M, de Klerk JB, Naumann M, Steenbergen-Spanjers GC, Strassburg HM, Wevers RA.
    Ann Neurol; 2003 Sep 22; 54 Suppl 6():S56-65. PubMed ID: 12891655
    [Abstract] [Full Text] [Related]

  • 10. [Segawa disease (hereditary progressive dystonia with marked diurnal fluctuation-HPD) and abnormalities in pteridin metabolism].
    Segawa M.
    Rinsho Shinkeigaku; 1996 Dec 22; 36(12):1322-3. PubMed ID: 9128393
    [Abstract] [Full Text] [Related]

  • 11. [Segawa disease].
    Nomura Y.
    Rinsho Shinkeigaku; 1997 Dec 22; 37(12):1137-8. PubMed ID: 9577670
    [Abstract] [Full Text] [Related]

  • 12. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
    Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, Sân C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A, French Dystonia Network.
    Brain; 2009 Jul 22; 132(Pt 7):1753-63. PubMed ID: 19491146
    [Abstract] [Full Text] [Related]

  • 13. GTP cyclohydrolase I gene, dystonia, juvenile parkinsonism, and Parkinson's disease.
    Nagatsu T, Ichinose H.
    J Neural Transm Suppl; 1997 Jul 22; 49():203-9. PubMed ID: 9266429
    [Abstract] [Full Text] [Related]

  • 14. [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 22; 19(2):85-9. PubMed ID: 10464780
    [Abstract] [Full Text] [Related]

  • 15. Motor control in childhood onset dopa-responsive dystonia (Segawa syndrome).
    Müller K, Hömberg V, Lenard HG.
    Neuropediatrics; 1989 Nov 22; 20(4):185-91. PubMed ID: 2514399
    [Abstract] [Full Text] [Related]

  • 16. Dopa-responsive dystonia and Tourette syndrome in a large Danish family.
    Romstad A, Dupont E, Krag-Olsen B, Østergaard K, Guldberg P, Güttler F.
    Arch Neurol; 2003 Apr 22; 60(4):618-22. PubMed ID: 12707079
    [Abstract] [Full Text] [Related]

  • 17. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.
    Blau N, Bonafé L, Thöny B.
    Mol Genet Metab; 2001 Apr 22; 74(1-2):172-85. PubMed ID: 11592814
    [Abstract] [Full Text] [Related]

  • 18. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.
    Furukawa Y, Kish SJ, Bebin EM, Jacobson RD, Fryburg JS, Wilson WG, Shimadzu M, Hyland K, Trugman JM.
    Ann Neurol; 1998 Jul 22; 44(1):10-6. PubMed ID: 9667588
    [Abstract] [Full Text] [Related]

  • 19. Two in the hand, an essential lesson in tremor management.
    Gallagher P, Archibald N, Goldsmith P, Burn D.
    Pract Neurol; 2010 Jun 22; 10(3):160-3. PubMed ID: 20498189
    [Abstract] [Full Text] [Related]

  • 20. High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening.
    Hagenah J, Saunders-Pullman R, Hedrich K, Kabakci K, Habermann K, Wiegers K, Mohrmann K, Lohnau T, Raymond D, Vieregge P, Nygaard T, Ozelius LJ, Bressman SB, Klein C.
    Neurology; 2005 Mar 08; 64(5):908-11. PubMed ID: 15753436
    [Abstract] [Full Text] [Related]

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