Associated Papers
Synaptobrevin-2 disease variants reveal spatial constraints within the presynaptic active zone.
Guzikowski NJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.
Scorrano G et al.
International Journal of Molecular Sciences, 2024
VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders.
Bogue D et al.
Molecular Syndromology, 2023
Vesicle trafficking with snares: a perspective for autism.
Özdemir Ç et al.
Molecular Biology Reports, 2022
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
34716697 (PubMed )
Supplement: MGG3-9-e1836-s002.xlsx › Feuil1
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Salpietro V et al.
American Journal of Human Genetics, 2019
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