Associated Papers
Expanding the Phenotypic Horizon of VAC14-Related Neurodegeneration.
Chowdhury SR et al.
Movement Disorders Clinical Practice, 2025
Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival.
Cuinat S et al.
Movement Disorders Clinical Practice, 2025
40443206 (PubMed )
Supplement: MDC3-12-1668-s002.xlsx › Feuil1
Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome.
Beauregard-Lacroix É et al.
Genetics in Medicine Open, 2024
39669591 (PubMed )
Supplement: mmc3.xlsx › Feuil1
An Emerging Role for Phosphoinositides in the Pathophysiology of Parkinson's Disease.
Schechter M et al.
Journal of Parkinson's Disease, 2021
Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature.
Baumann H et al.
Parkinsonism & Related Disorders, 2020
Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.
Liao S et al.
Molecular Genetics & Genomic Medicine, 2020
A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.
Taghavi S et al.
Molecular Neurobiology, 2018
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