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22. New nonsense mutation in the GTP-cyclohydrolase I gene in L-DOPA responsive dystonia-parkinsonism. Hoenicka J; Vidal L; Godoy M; Ochoa JJ; García de Yébenes J Mov Disord; 2001 Mar; 16(2):364-6. PubMed ID: 11295799 [No Abstract] [Full Text] [Related]
23. Dopa responsive dystonia with Turner's syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP-cyclohydrolase I gene. Nitschke M; Steinberger D; Heberlein I; Otto V; Müller U; Vieregge P J Neurol Neurosurg Psychiatry; 1998 Jun; 64(6):806-8. PubMed ID: 9647318 [TBL] [Abstract][Full Text] [Related]
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29. 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 [TBL] [Abstract][Full Text] [Related]
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33. Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia. Hirano M; Imaiso Y; Ueno S Biochem Biophys Res Commun; 1997 May; 234(2):316-9. PubMed ID: 9177267 [TBL] [Abstract][Full Text] [Related]
34. 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 [TBL] [Abstract][Full Text] [Related]
35. [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]
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38. Molecular genetics of hereditary dystonia--mutations in the GTP cyclohydrolase I gene. Ichinose H; Nagatsu T Brain Res Bull; 1997; 43(1):35-8. PubMed ID: 9205791 [TBL] [Abstract][Full Text] [Related]