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
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Genome-wide tandem repeat expansions contribute to schizophrenia risk.
Mojarad BA et al.
Molecular Psychiatry, 2022
35546631 (PubMed )
Supplement: 41380_2022_1575_MOESM2_ESM.xlsx › Supplementary_Table_S5
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
Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients.
Xiong J et al.
Bmc Medical Genomics, 2021
Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia.
Mojarad BA et al.
Translational Psychiatry, 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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