Associated Papers
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.
Novelli M et al.
Movement Disorders Clinical Practice, 2024
Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.
Cronin SJF et al.
Biorxiv : the Preprint Server for Biology, 2023
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
Genetic etiology and clinical challenges of phenylketonuria.
Elhawary NA et al.
Human Genomics, 2022
Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.
Weissbach A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review.
Chen Y et al.
Frontiers in Genetics, 2022
GCH1 mutations in hereditary spastic paraplegia.
Varghaei P et al.
Clinical Genetics, 2021
A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia.
Giri S et al.
Journal of Molecular Neuroscience : Mn, 2019
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.
Khatami S et al.
Jimd Reports, 2017
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci NE et al.
Brain : a Journal of Neurology, 2014
Clinical spectrum of dopa-responsive dystonia and related disorders.
Lee WW et al.
Current Neurology and Neuroscience Reports, 2014
Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation.
Sato H et al.
Brain & Development, 2014
[Causative gene and its associated gene for Parkinson disease and dystonia].
Hasegawa K et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2009
Dopa-responsive dystonia presenting as delayed and awkward gait.
Cheyette BN et al.
Pediatric Neurology, 2008
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
Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions.
Munhoz RP et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2004
Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
Kikuchi A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2004
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
[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
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