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
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
Retrospective chart review of inherited and idiopathic dystonia.
Alakkas A et al.
Frontiers in Genetics, 2025
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
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
Atypical presentation of dopa-responsive dystonia in Taiwan.
Weng YC et al.
Brain and Behavior, 2018
[Causative gene and its associated gene for Parkinson disease and dystonia].
Hasegawa K et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2009
Predisposition of genetic disease by modestly decreased expression of GCH1 mutant allele.
Kim YS et al.
Experimental & Molecular Medicine, 2008
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
Regulation of GTP cyclohydrolase I by alternative splicing in mononuclear cells.
Hwu WL et al.
Biochemical and Biophysical Research Communications, 2003
Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.
Nardocci N et al.
Neurology, 2003
Dopa-responsive dystonia is induced by a dominant-negative mechanism.
Hwu WL et al.
Annals of Neurology, 2000
Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.
Hwu WL et al.
Human Genetics, 1999