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
Unfolding of Novel Independent Missense Mutations in VAMP2 and AGRN and Their Collective Role in Global Developmental Delay: A Case Report.
Heidarpour N et al.
Cureus, 2022
Presynaptic dysfunction in neurodevelopmental disorders: Insights from the synaptic vesicle life cycle.
Bonnycastle K et al.
Journal of Neurochemistry, 2021
Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.
Simmons RL et al.
Human Mutation, 2020
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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