Associated Papers
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
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
Monfrini E et al.
Movement Disorders Clinical Practice, 2024
38291845 (PubMed )
Supplement: MDC3-11-87-s001.xlsx › Foglio1
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
Mutation screening of VPS16 gene in patients with isolated dystonia.
Li LX et al.
Parkinsonism & Related Disorders, 2021
DYT30 due to VPS16 Mutation: An Etiology of Childhood-Onset Generalized Dystonia.
Shashi S et al.
Annals of Indian Academy of Neurology, 0
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