Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
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
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
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