Associated Papers
Genetic and clinical profile of a Brazilian cohort of dopa-responsive dystonia.
de Alencar Guerra A et al.
Journal of the Neurological Sciences, 2025
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
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: Guitarist's cramp as the initial manifestation of dopa-responsive dystonia with a novel heterozygous GCH1 mutation.
Hasegawa T et al.
F1000research, 2021
Residual signs of dopa-responsive dystonia with GCH1 mutation following levodopa treatment are uncommon in Korean patients.
Ahn TB et al.
Parkinsonism & Related Disorders, 2019
GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.
Yoshino H et al.
Journal of Neurology, 2018
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.
Haskell GT et al.
Neurology. Genetics, 2018
Dopa-Responsive Dystonia and gait analysis: A case study of levodopa therapeutic effects.
Rebour R et al.
Brain & Development, 2015
GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia.
Fan Z et al.
Journal of Neurology, 2014
Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiency.
Mayahi L et al.
Circulation. Cardiovascular Genetics, 2010
Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.
Trender-Gerhard I et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2009
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Clot F et al.
Brain : a Journal of Neurology, 2009
[Causative gene and its associated gene for Parkinson disease and dystonia].
Hasegawa K et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2009
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
Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation.
Uncini A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2004
[Molecular genetic analysis of hereditary neurodegenerative diseases].
Illarioshkin SN et al.
Genetika, 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
Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
Tassin J et al.
Brain : a Journal of Neurology, 2000
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
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
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