Associated Papers
Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study.
Svorenova T et al.
Annals of Neurology, 2025
VPS16-Related Dystonia: Expanding the Clinical Spectrum and Therapeutic Insights.
Panigrahi B et al.
Movement Disorders Clinical Practice, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
VPS16-Associated Dystonia: A Cohort-Based Clinical, Imaging and Genetic Profile.
Mahale RR et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 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
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
Monfrini E et al.
Movement Disorders Clinical Practice, 2024
Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.
Wadon ME et al.
Journal of Neurology, 2022
De Novo Missense Mutation of VPS16 in a Chinese Patient with Generalized Dystonia with Myoclonus.
Gu X et al.
Movement Disorders Clinical Practice, 2022
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia.
Park J et al.
Neurology. Genetics, 2022
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.
Monfrini E et al.
Brain : a Journal of Neurology, 2021
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.
Ostrozovicova M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients.
Li XY et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Steel D et al.
Annals of Neurology, 2020