Associated Papers
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.
Novelli M et al.
Movement Disorders Clinical Practice, 2024
GiOPARK Project: The Genetic Study of Parkinson's Disease in the Croatian Population.
Rački V et al.
Genes, 2024
Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.
Cronin SJF et al.
Biorxiv : the Preprint Server for Biology, 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
Longitudinal evaluations of somatosensory-motor inhibition in Dopa-responsive dystonia.
Weissbach A et al.
Parkinsonism & Related Disorders, 2022
Common and rare GCH1 variants are associated with Parkinson's disease.
Rudakou U et al.
Neurobiology of Aging, 2019
Low frequency of GCH1 and TH mutations in Parkinson's disease.
Rengmark A et al.
Parkinsonism & Related Disorders, 2016
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E et al.
Brain : a Journal of Neurology, 2016
Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci NE et al.
Brain : a Journal of Neurology, 2015
Parkinsonism in GTP cyclohydrolase 1 mutation carriers.
Guella I et al.
Brain : a Journal of Neurology, 2015
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci NE et al.
Brain : a Journal of Neurology, 2014
Hereditary dystonia and parkinsonism: two sides of the same coin?
Weissbach A et al.
Brain : a Journal of Neurology, 2014
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Clot F et al.
Brain : a Journal of Neurology, 2009
Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations.
Furukawa Y et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2004