Associated Papers
Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.
Cronin SJF et al.
Biorxiv : the Preprint Server for Biology, 2023
Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.
Leuzzi V et al.
Jimd Reports, 2013
[Causative gene and its associated gene for Parkinson disease and dystonia].
Hasegawa K et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2009
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
Steinberger D et al.
Neurogenetics, 2007
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
Thöny B et al.
Human Mutation, 2006
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 et al.
Advances in Neurology, 2004
Mutations of GCH1 in Dopa-responsive dystonia.
Müller U et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2002
Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia.
Suzuki T et al.
Journal of Neurochemistry, 1999
Molecular genetics of dopa-responsive dystonia.
Ichinose H et al.
Biological Chemistry, 1999
[The relation between metabolism of biopterin and dystonia-parkinsonism].
Ichinose H et al.
Nihon Shinkei Seishin Yakurigaku Zasshi = Japanese Journal of Psychopharmacology, 1999
Molecular biology of catecholamine-related enzymes in relation to Parkinson's disease.
Nagatsu T et al.
Cellular and Molecular Neurobiology, 1999
Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin.
Nagatsu T et al.
Molecular Neurobiology, 1999
Molecular genetics of DOPA-responsive dystonia.
Ichinose H et al.
Advances in Neurology, 1999
[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
Dopa-responsive dystonia: a clinical and molecular genetic study.
Bandmann O et al.
Annals of Neurology, 1998
Clinical and molecular genetics of primary dystonias.
Müller U et al.
Neurogenetics, 1998
[Molecular biology of hereditary dystonia].
Nagatsu T et al.
No to Hattatsu = Brain and Development, 1998
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.
Thöny B et al.
Human Mutation, 1997
Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.
Bandmann O et al.
Human Molecular Genetics, 1996
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency.
Ichinose H et al.
The Journal of Biological Chemistry, 1995
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.
Ichinose H et al.
Nature Genetics, 1994