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
Blepharoclonus - a novel phenotypic association with a VAC14 variant.
Madhavi K et al.
Clinical Parkinsonism & Related Disorders, 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
Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.
Liao S et al.
Molecular Genetics & Genomic Medicine, 2020
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
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
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.
Lenk GM et al.
American Journal of Human Genetics, 2016
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