Associated Papers
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
Genetic and clinical profile of a Brazilian cohort of dopa-responsive dystonia.
de Alencar Guerra A et al.
Journal of the Neurological Sciences, 2025
Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Association of Amyotrophic Lateral Sclerosis and Dopa-responsive dystonia in a Tunisian patient.
Kacem I et al.
Parkinsonism & Related Disorders, 2025
Genetics of Cerebral Palsy: Diagnosis, Differential Diagnosis, and Beyond.
Jang DH et al.
Annals of Rehabilitation Medicine, 2024
Parkinson's Disease Gene Screening in Familial Cases from Central and South America.
Lorenzo-Betancor O et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
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
Pure hypotonia in a four-year-old patient: An atypical presentation of Dopa-responsive dystonia.
Eye PG et al.
Journal of the Neurological Sciences, 2019
A novel missense mutation of the GTP cyclohydrolase 1 gene in a Taiwanese family with dopa-responsive dystonia: A case report.
Yang CC et al.
Clinical Neurology and Neurosurgery, 2018
Atypical presentation of dopa-responsive dystonia in Taiwan.
Weng YC et al.
Brain and Behavior, 2018
Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia.
Lee JY et al.
Parkinsonism & Related Disorders, 2013
Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients.
Yu L et al.
European Journal of Human Genetics : Ejhg, 2013
A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population.
Hu FY et al.
European Journal of Neurology, 2011
High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia.
Wu-Chou YH et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2010
GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.
Liu X et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
[Causative gene and its associated gene for Parkinson disease and dystonia].
Hasegawa K et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2009
[Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia].
Li J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness.
Kong CK et al.
Neurology, 2001
A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping.
Skrygan M et al.
Journal of Inherited Metabolic Disease, 2001
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
Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia.
Ueno S et al.
Brain & Development, 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
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
L-dopa reversal of muscular spasm, vomiting and insomnia in a patient with an atypical form of familial dystonia.
Coleman MP et al.
Transactions of the American Neurological Association, 1969