SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

A Postsynaptic Signaling Pathway that May Account for the Cognitive Defect Due to IL1RAPL1 Mutation

(2010) Alice Pavlowsky et al.   CURRENT BIOLOGY

MAPK/Erk-dependent phosphorylation of synapsin mediates formation of functional synapses and short-term homosynaptic plasticity

(2010) Carlo Natale Giuseppe Giachello et al.   JOURNAL OF CELL SCIENCE

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

(2010) Simone Berkel et al.   NATURE GENETICS

The synapsins: Key actors of synapse function and plasticity

(2010) F. Cesca et al.   PROGRESS IN NEUROBIOLOGY

The highly conserved synapsin domain E mediates synapsin dimerization and phospholipid vesicle clustering

(2009) Ilaria Monaldi et al.   BIOCHEMICAL JOURNAL

A synaptic trek to autism

(2009) Thomas Bourgeron   CURRENT OPINION IN NEUROBIOLOGY

Mice lacking synapsin III show abnormalities in explicit memory and conditioned fear

(2009) B. Porton et al.   GENES BRAIN AND BEHAVIOR

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

(2009) R. A. Kumar et al.   JOURNAL OF MEDICAL GENETICS

A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export

(2009) C. Zhang et al.   JOURNAL OF NEUROSCIENCE

Mouse neurexin-1  deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments

(2009) M. R. Etherton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Behavioral abnormalities in synapsin II knockout mice implicate a causal factor in schizophrenia

(2009) Bailee A. Dyck et al.   SYNAPSE

Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

(2008) Maricela Alarcón et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism

(2008) Dan E. Arking et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders

(2008) Betul Bakkaloglu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autism and Brain Development

(2008) Christopher A. Walsh et al.   CELL

Opposite Changes in Glutamatergic and GABAergic Transmission Underlie the Diffuse Hyperexcitability of Synapsin I–Deficient Cortical Networks

(2008) Michela Chiappalone et al.   CEREBRAL CORTEX

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

(2008) A. Piton et al.   HUMAN MOLECULAR GENETICS

Neuroligins and neurexins link synaptic function to cognitive disease

(2008) Thomas C. Südhof   NATURE

Advances in autism genetics: on the threshold of a new neurobiology

(2008) Brett S. Abrahams et al.   NATURE REVIEWS GENETICS