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
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
Atypical presentation of dopa-responsive dystonia in Taiwan.
Weng YC et al.
Brain and Behavior, 2018
A novel tyrosine hydroxylase variant in a group of Chinese patients with dopa-responsive dystonia.
Yan YP et al.
The International Journal of Neuroscience, 2017
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 guanosine triphosphate cyclohydrolase I deficiency with novel mutations.
Yum MS et al.
Pediatric Neurology, 2008
[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
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