Associated Papers
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
VAC14 oligomerization is essential for the function of the FAB1/PIKfyve-VAC14-FIG4 complex.
Zhang L et al.
Molecular Biology of the Cell, 2025
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
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
36918699 (PubMed )
Supplement: 41598_2023_31134_MOESM1_ESM.pdf
Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.
Liao S et al.
Molecular Genetics & Genomic Medicine, 2020
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