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
Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.
Butz H et al.
Frontiers in Oncology, 2022
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Alaimo JT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson's disease: a two-cohort case-control study.
Pan HX et al.
Translational Neurodegeneration, 2020
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
Common and rare GCH1 variants are associated with Parkinson's disease.
Rudakou U et al.
Neurobiology of Aging, 2019
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Batllori M et al.
Scientific Reports, 2017
Low frequency of GCH1 and TH mutations in Parkinson's disease.
Rengmark A et al.
Parkinsonism & Related Disorders, 2016
Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci NE et al.
Brain : a Journal of Neurology, 2015
Parkinsonism in GTP cyclohydrolase 1 mutation carriers.
Guella I et al.
Brain : a Journal of Neurology, 2015
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
Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.
Leuzzi V et al.
Jimd Reports, 2013
D216H polymorphism within TOR1A does not affect penetrance in DRD and is not a general modifier in primary dystonia.
Herzfeld T et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2011
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
[Causative gene and its associated gene for Parkinson disease and dystonia].
Hasegawa K et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2009
Frequency of GCH1 deletions in Dopa-responsive dystonia.
Zirn B et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008
A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia.
Scola RH et al.
Arquivos De Neuro-psiquiatria, 2007
Adult-onset dystonia: atypical manifestation of Segawa disease.
Regula JU et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease.
Hertz JM et al.
European Journal of Neurology, 2006
Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations.
Furukawa Y 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
Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group.
Steinberger D et al.
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
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
Tardive dyskinesia in dopa-responsive dystonia: a reappraisal of the dopamine hypothesis of tardive dyskinesia.
de la Fuente-Fernández R
Neurology, 1998
Clinical and molecular genetics of primary dystonias.
Müller U et al.
Neurogenetics, 1998
GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs.
Jarman PR et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 1997
Mutations in GTP-cyclohydrolase I gene and vitiligo.
de la Fuente-Fernández R
Lancet (london, England), 1997