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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; 94():217-23. PubMed ID: 14509676 [No Abstract] [Full Text] [Related]
16. 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; 31(2):173-5. PubMed ID: 18621497 [TBL] [Abstract][Full Text] [Related]
17. 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; 40(5):796-8. PubMed ID: 8957022 [TBL] [Abstract][Full Text] [Related]
18. [Hereditary progressive dystonia with marked diurnal fluctuation; dominant Dopa-responsive dystonia linked to GTP cyclohydrolase I gene (HPD/DRD); Segawa's disease]. Segawa M Ryoikibetsu Shokogun Shirizu; 1999; (27 Pt 2):144-7. PubMed ID: 10434614 [No Abstract] [Full Text] [Related]