Associated Papers
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
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
A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.
Sowińska-Seidler A et al.
Frontiers in Molecular Biosciences, 2023
SYT1-Associated Neurodevelopmental Disorder: A Narrative Review.
Riggs E et al.
Children (basel, Switzerland), 2022
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
Alterations of presynaptic proteins in autism spectrum disorder.
Yeo XY et al.
Frontiers in Molecular Neuroscience, 2022
Disorders of synaptic vesicle fusion machinery.
Melland H et al.
Journal of Neurochemistry, 2021
Molecular Basis for Synaptotagmin-1-Associated Neurodevelopmental Disorder.
Bradberry MM et al.
Neuron, 2020
SYT1-associated neurodevelopmental disorder: a case series.
Baker K et al.
Brain : a Journal of Neurology, 2018
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
Cafiero C et al.
European Journal of Human Genetics : Ejhg, 2015
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