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
SNAP25 variant I67N: synaptic phenotypes, drug response and proteome changes in human neurons.
Østergaard M et al.
Brain : a Journal of Neurology, 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
Neurotransmitter release is triggered by a calcium-induced rearrangement in the Synaptotagmin-1/SNARE complex primary interface.
Toulmé E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
SNAP25 disease mutations change the energy landscape for synaptic exocytosis due to aberrant SNARE interactions.
Kádková A et al.
Elife, 2024
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
Single-cell long-read sequencing in human cerebral organoids uncovers cell-type-specific and autism-associated exons.
Yang Y et al.
Cell Reports, 2023
Genetic disorders of neurotransmitter release machinery.
Uzay B et al.
Frontiers in Synaptic Neuroscience, 2023
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
Disorders of synaptic vesicle fusion machinery.
Melland H et al.
Journal of Neurochemistry, 2021
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Klöckner C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Dysfunction of the SNARE complex in neurological and psychiatric disorders.
Chen F et al.
Pharmacological Research, 2021
Role of Aberrant Spontaneous Neurotransmission in SNAP25-Associated Encephalopathies.
Alten B et al.
Neuron, 2021
Molecule-to-Circuit Disease Mechanisms of a Synaptic SNAREopathy.
Praschberger R et al.
Neuron, 2021
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.
Fukuda H et al.
Journal of Human Genetics, 2018
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF et al.
American Journal of Human Genetics, 2017
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability.
Shen XM et al.
Neurology, 2014
Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability.
Rohena L et al.
Rare Diseases (austin, Tex.), 2013