Associated Papers
The genetic architecture of Parkinson's disease on the Island of Crete.
Boura I et al.
Npj Parkinson's Disease, 2025
41413081 (PubMed )
Supplement: 41531_2025_1192_MOESM1_ESM.pdf
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
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
Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia.
Lee JY et al.
Parkinsonism & Related Disorders, 2013
Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy.
Lee JH et al.
Journal of Korean Medical Science, 2011
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