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
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
Monfrini E et al.
Movement Disorders Clinical Practice, 2024
Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia.
Petry-Schmelzer JN et al.
Neurological Research and 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
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
DYT30 due to VPS16 Mutation: An Etiology of Childhood-Onset Generalized Dystonia.
Shashi S et al.
Annals of Indian Academy of Neurology, 0