Associated Papers
Dopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis.
Fontanesi D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
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
Aberrant proteins expressed in skin fibroblasts of Parkinson's disease patients carrying heterozygous variants of glucocerebrosidase and parkin genes.
Sawangareetrakul P et al.
Biomedical Reports, 2021
Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.
Schneider SA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Clot F et al.
Brain : a Journal of Neurology, 2009
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