Associated Papers
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
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
[Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia].
Tan D et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Predisposition of genetic disease by modestly decreased expression of GCH1 mutant allele.
Kim YS et al.
Experimental & Molecular Medicine, 2008
[TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia].
Liu W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
Gene symbol: GCH1. Disease: Dopa-responsive dystonia.
Zhou H et al.
Human Genetics, 2004
[Recessive dopa-responsive form of dystonia due to a mutation of the tyrosine hydroxylase gene].
Rondot P et al.
Bulletin De L'academie Nationale De Medecine, 1999
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