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
Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation.
Lin JJ et al.
Journal of Neurology, 2018
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
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
[Monogenetic dystonia: revisiting the dopaminergic hypothesis].
Blanchard A et al.
Revue Neurologique, 2010
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