Associated Papers
Mutations in VPS18 lead to a neutrophil maturation defect associated with disturbed vesicle homeostasis.
Gao J et al.
Cell Death & Disease, 2026
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
VPS16-Related Dystonia: Expanding the Clinical Spectrum and Therapeutic Insights.
Panigrahi B et al.
Movement Disorders Clinical Practice, 2025
Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.
Yıldız Y et al.
Clinical Genetics, 2021
Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.
Sofou K et al.
Embo Molecular Medicine, 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
Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.
Chen YP et al.
Journal of Parkinson's Disease, 2021
Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.
Cai X et al.
Scientific Reports, 2016
DYT30 due to VPS16 Mutation: An Etiology of Childhood-Onset Generalized Dystonia.
Shashi S et al.
Annals of Indian Academy of Neurology, 0