Associated Papers
Genetic and clinical profile of a Brazilian cohort of dopa-responsive dystonia.
de Alencar Guerra A et al.
Journal of the Neurological Sciences, 2025
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › GCH1_Short_Variants_Pathogeneti
Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.
Wadon ME et al.
Journal of Neurology, 2022
35925398 (PubMed )
Supplement: 415_2022_11307_MOESM4_ESM.xlsx › Sheet1
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
A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family.
Bernal-Pacheco O et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2013
A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene.
Furuya H et al.
Clinical Neurology and Neurosurgery, 2006
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