(Q45777752)

15 December 2017

title

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

1 reference

15 December 2017

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1

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15 December 2017

Amélie Piton

5

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15 December 2017

Guy A. Rouleau

19

Guy A Rouleau

1 reference

15 December 2017

Davide Pozzi

7

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Flavia Valtorta

Flavia Valtorta

17

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Laurent Mottron

16

Laurent Mottron

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15 December 2017

6

Julie Gauthier

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15 December 2017

21

Patrick Cossette

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15 December 2017

Lysanne Patry

2

Lysanne Patry

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15 December 2017

Judith St-Onge

14

Judith St-Onge

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15 December 2017

Anna Corradi

11

Anna Corradi

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15 December 2017

Manuela Fadda

10

Manuela Fadda

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15 December 2017

Fabio Benfenati

20

Fabio Benfenati

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15 December 2017

Caroline Meloche

15

Caroline Meloche

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15 December 2017

author name string

Sonia Congia

3

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15 December 2017

Franco Onofri

4

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15 December 2017

Mirko Messa

8

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15 December 2017

Enrico Defranchi

9

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15 December 2017

Pietro Baldelli

12

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15 December 2017

Line Lapointe

13

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15 December 2017

Dang Khoa Nguyen

18

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15 December 2017

language of work or name

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25 March 2011

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15 December 2017

published in

Human Molecular Genetics

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15 December 2017

volume

20

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15 December 2017

issue

12

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15 December 2017

page(s)

2297-2307

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15 December 2017

A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden

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1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Autism as a strongly genetic disorder: evidence from a British twin study

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Autism and brain development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Contribution of SHANK3 mutations to autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Disruption of neurexin 1 associated with autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

A synaptic trek to autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Exploring New Gene Discoveries in Idiopathic Generalized Epilepsy

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Essential functions of synapsins I and II in synaptic vesicle regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Impairment of synaptic vesicle clustering and of synaptic transmission, and increased seizure propensity, in synapsin I-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Abnormal neurotransmission in mice lacking synaptic vesicle protein 2A (SV2A)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

SV2A and SV2B function as redundant Ca2+ regulators in neurotransmitter release

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

The synapsins: key actors of synapse function and plasticity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Synaptic vesicle-associated Ca2+/calmodulin-dependent protein kinase II is a binding protein for synapsin I

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Molecular determinants of synapsin targeting to presynaptic terminals

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Specificity of the binding of synapsin I to Src homology 3 domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Synaptic vesicle mobilization is regulated by distinct synapsin I phosphorylation pathways at different frequencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Impairment of axonal development and of synaptogenesis in hippocampal neurons of synapsin I-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

The use of pHluorins for optical measurements of presynaptic activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Studying vesicle cycling in presynaptic terminals using the genetically encoded probe synaptopHluorin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Postnatal Neurodevelopmental Disorders: Meeting at the Synapse?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Neuroligins and neurexins link synaptic function to cognitive disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

The synapsin domain E accelerates the exoendocytotic cycle of synaptic vesicles in cerebellar Purkinje cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Different presynaptic roles of synapsins at excitatory and inhibitory synapses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Opposite changes in glutamatergic and GABAergic transmission underlie the diffuse hyperexcitability of synapsin I-deficient cortical networks

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

Two sites of action for synapsin domain E in regulating neurotransmitter release

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR122

21 January 2018

Identifiers

DOI

10.1093/HMG/DDR122

1 reference

15 December 2017

1 reference

15 December 2017