Associated Papers
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
Genetic disorders of neurotransmitter release machinery.
Uzay B et al.
Frontiers in Synaptic Neuroscience, 2023
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.
Reynolds HM et al.
Cold Spring Harbor Molecular Case Studies, 2022
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
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
SNAP-25 Puts SNAREs at Center Stage in Metabolic Disease.
Irfan M et al.
Neuroscience, 2019
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
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