Associated Papers
Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.
Cronin SJF et al.
Biorxiv : the Preprint Server for Biology, 2023
37214873 (PubMed )
Supplement: media-1.pdf
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
GCH1 mutations in hereditary spastic paraplegia.
Varghaei P et al.
Clinical Genetics, 2021
GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.
Yoshino H et al.
Journal of Neurology, 2018
Atypical presentation of dopa-responsive dystonia in Taiwan.
Weng YC et al.
Brain and Behavior, 2018
Establishment of DYT5 patient-specific induced pluripotent stem cells with a GCH1 mutation.
Murakami N et al.
Stem Cell Research, 2017
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci NE et al.
Brain : a Journal of Neurology, 2014
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
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