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
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
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Zeevi DA et al.
Molecular Genetics & Genomic Medicine, 2021
Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.
Liao S et al.
Molecular Genetics & Genomic Medicine, 2020
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.
Lyon GJ et al.
Cold Spring Harbor Molecular Case Studies, 2019
Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.
Kaur P et al.
Journal of Human Genetics, 2019
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