Associated Papers
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Asadollahi R et al.
Nature Genetics, 2025
De novo missense variants of UNC13A are implicated in epileptic encephalopathies and neurodevelopmental disorders.
Su K et al.
Genes & Diseases, 2025
Combined impact of CHCHD10 p.Gly66Val and three other variants suggests oligogenic contributions to ALS.
Wang Y et al.
Frontiers in 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
Activation of Munc13-1 by Diacylglycerol (DAG)-Lactones.
Das J et al.
Biochemistry, 2023
Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1-/- mice.
Wang J et al.
Iscience, 2023
37599823 (PubMed )
Supplement: mmc2.zip › Supplemental_tables › Supplemental_table_3.xlsx › Table_S3
UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target.
Willemse SW et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2023
The neurodevelopmental spectrum of synaptic vesicle cycling disorders.
John A et al.
Journal of Neurochemistry, 2021
Disorders of synaptic vesicle fusion machinery.
Melland H et al.
Journal of Neurochemistry, 2021
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
32853554 (PubMed )
Supplement: mmc2.xlsx › S6
STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?
Lanoue V et al.
Neurology, 2019
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.
Lipstein N et al.
The Journal of Clinical Investigation, 2017
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