Associated Papers
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.
Cronin SJF et al.
Biorxiv : the Preprint Server for Biology, 2023
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 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
Association analysis of SYT11, FGF20, GCH1 rare variants in Parkinson's disease.
Pu JL et al.
Cns Neuroscience & Therapeutics, 2022
GCH1 mutations in hereditary spastic paraplegia.
Varghaei P et al.
Clinical Genetics, 2021
Brain structural alterations in patients with GCH1 mutations associated DOPA-responsive dystonia.
Kostić VS et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia.
Giri S et al.
Journal of Molecular Neuroscience : Mn, 2019
Common and rare GCH1 variants are associated with Parkinson's disease.
Rudakou U et al.
Neurobiology of Aging, 2019
GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.
Dobričić V et al.
Parkinsonism & Related Disorders, 2017
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
[Analysis of clinical phenotype and CGH1 gene mutations in a family affected with dopa-responsive dystonia].
Yan Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
Transcranial sonography in dopa-responsive dystonia.
Svetel M et al.
European Journal of Neurology, 2017
Discovery of common human genetic variants of GTP cyclohydrolase 1 (GCH1) governing nitric oxide, autonomic activity, and cardiovascular risk.
Zhang L et al.
The Journal of Clinical Investigation, 2007
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