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Journal Abstract Search

363 related items for PubMed ID: 12707079

  • 1.
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  • 2. 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
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  • 4. [Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Jan; 46(1):19-34. PubMed ID: 16541791
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  • 5. 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
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  • 6. 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; 44(1):10-6. PubMed ID: 9667588
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  • 7. [Dopa-responsive dystonia].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Nov; 46(11):769-73. PubMed ID: 17432176
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  • 11. 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 Nov; 94():217-23. PubMed ID: 14509676
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  • 13. High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.
    Steinberger D, Weber Y, Korinthenberg R, Deuschl G, Benecke R, Martinius J, Müller U.
    Ann Neurol; 1998 May; 43(5):634-9. PubMed ID: 9585358
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  • 15. Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia.
    Bezin L, Nygaard TG, Neville JD, Shen H, Levine RA.
    Neurology; 1998 Apr; 50(4):1021-7. PubMed ID: 9566389
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  • 17. Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.
    Trender-Gerhard I, Sweeney MG, Schwingenschuh P, Mir P, Edwards MJ, Gerhard A, Polke JM, Hanna MG, Davis MB, Wood NW, Bhatia KP.
    J Neurol Neurosurg Psychiatry; 2009 Aug; 80(8):839-45. PubMed ID: 19332422
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  • 18. Drug-induced motor complications in dopa-responsive dystonia: implications for the pathogenesis of dyskinesias and motor fluctuations.
    de la Fuente-Fernández R.
    Clin Neuropharmacol; 1999 Aug; 22(4):216-9. PubMed ID: 10442251
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  • 19. Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia.
    Camargos ST, Cardoso F, Momeni P, Gianetti JG, Lees A, Hardy J, Singleton A.
    Mov Disord; 2008 Jan 30; 23(2):299-302. PubMed ID: 18044725
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  • 20. [Clinical analysis of dopa-responsive dystonia and mutation analysis of the GCH I gene].
    Xie H, Wu ZY, Wang N, Li ZW, Lin MT, Murong SX.
    Zhonghua Er Ke Za Zhi; 2006 Jul 30; 44(7):492-5. PubMed ID: 17044972
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