Associated Papers
Regulation of spontaneous neurotransmission and homeostatic synaptic plasticity by synaptotagmin-1 disease variants at the SNARE primary interface.
Bagatelas ED et al.
Biorxiv : the Preprint Server for Biology, 2026
Correlation between evoked neurotransmitter release and adaptive functions in SYT1-associated neurodevelopmental disorder.
Park PY et al.
Ebiomedicine, 2024
Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns.
Huang W et al.
Neurogenetics, 2024
Expanding the genetic and phenotypic spectrum of Baker-Gordon syndrome: a new de novo SYT1 variant.
Cotrina-Vinagre FJ et al.
Journal of Genetics, 2024
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Melland H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
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