Associated Papers
SYN1 variant causes X-linked neurodevelopmental disorders: a case report of variable clinical phenotypes in siblings.
Ren B et al.
Frontiers in Neurology, 2024
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
35863433 (PubMed )
Supplement: mmc4.xlsx › -1_position
Alterations of presynaptic proteins in autism spectrum disorder.
Yeo XY et al.
Frontiers in Molecular Neuroscience, 2022
The different clinical facets of SYN1-related neurodevelopmental disorders.
Parenti I et al.
Frontiers in Cell and Developmental Biology, 2022
An updated reappraisal of synapsins: structure, function and role in neurological and psychiatric disorders.
Longhena F et al.
Neuroscience and Biobehavioral Reviews, 2021
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.
Accogli A et al.
Neurology, 2021
Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients.
Xiong J et al.
Bmc Medical Genomics, 2021
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility.
Guarnieri FC et al.
Human Molecular Genetics, 2017
Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity.
Gilbert J et al.
Frontiers in Cellular Neuroscience, 2017
Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsins.
Giovedí S et al.
Frontiers in Pediatrics, 2014
Synaptic proteins and receptors defects in autism spectrum disorders.
Chen J et al.
Frontiers in Cellular Neuroscience, 2014
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.
Paemka L et al.
Plos One, 2013
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
Fassio A et al.
Human Molecular Genetics, 2011
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