(Q38112617)

29 August 2017

Progress toward treatments for synaptic defects in autism (English)

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29 August 2017

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6

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29 August 2017

Roberto Toro

3

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Marion Leboyer

object named as

Marion Leboyer

series ordinal

4

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Richard Delorme

object named as

Richard Delorme

series ordinal

1

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Christopher Gillberg

series ordinal

5

object named as

Christopher Gillberg

1 reference

29 August 2017

Elodie Ey

2

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PubMed ID

23744158

29 August 2017

language of work or name

English

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publication date

6 June 2013

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29 August 2017

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29 August 2017

19

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29 August 2017

6

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29 August 2017

685-694

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https://scigraph.springernature.com/pub.10.1038/nm.3193

29 August 2017

0 references

cites work

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

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Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

21 January 2018

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Spatio-temporal transcriptome of the human brain

21 January 2018

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Reversal of neurological defects in a mouse model of Rett syndrome

21 January 2018

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Developmental course of autistic social impairment in males

21 January 2018

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Six developmental trajectories characterize children with autism

21 January 2018

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Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model

21 January 2018

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The ESSENCE in child psychiatry: Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations.

21 January 2018

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Critical period plasticity in local cortical circuits

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Brain mechanisms in early language acquisition

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Critical period regulation

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Fine-tuning of pre-balanced excitation and inhibition during auditory cortical development

21 January 2018

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Autism: a "critical period" disorder?

21 January 2018

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

21 January 2018

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Genetic architecture in autism spectrum disorder

21 January 2018

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Mutations causing syndromic autism define an axis of synaptic pathophysiology

21 January 2018

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Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

21 January 2018

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A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice

21 January 2018

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Activity-dependent neuronal signalling and autism spectrum disorder

21 January 2018

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FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

21 January 2018

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Allen Brain Atlas: an integrated spatio-temporal portal for exploring the central nervous system

21 January 2018

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Neuroligin 1 is a postsynaptic cell-adhesion molecule of excitatory synapses

21 January 2018

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The role of SAP97 in synaptic glutamate receptor dynamics

21 January 2018

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SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.

21 January 2018

1 reference

Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses

21 January 2018

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Developmental trajectories in children with and without autism spectrum disorders: the first 3 years

21 January 2018

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When is the brain enlarged in autism? A meta-analysis of all brain size reports

21 January 2018

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Differences in white matter fiber tract development present from 6 to 24 months in infants with autism

21 January 2018

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Developmental trajectories of resting EEG power: an endophenotype of autism spectrum disorder

21 January 2018

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Atypical face versus object processing and hemispheric asymmetries in 10-month-old infants at risk for autism

21 January 2018

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Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome.

21 January 2018

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Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

21 January 2018

1 reference

Behavioral profiles of mouse models for autism spectrum disorders

21 January 2018

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AMPAKINE enhancement of social interaction in the BTBR mouse model of autism

21 January 2018

1 reference

(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features

21 January 2018

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Reversal of sensorimotor gating abnormalities in Fmr1 knockout mice carrying a human Fmr1 transgene.

21 January 2018

1 reference

Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene

21 January 2018

1 reference

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

21 January 2018

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Altered neuroligin expression is involved in social deficits in a mouse model of the fragile X syndrome

21 January 2018

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Correction of fragile X syndrome in mice.

21 January 2018

1 reference

Reversal of fragile X phenotypes by manipulation of AβPP/Aβ levels in Fmr1KO mice

21 January 2018

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Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model.

21 January 2018

1 reference

The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression.

21 January 2018

1 reference

Selective preservation of MeCP2 in catecholaminergic cells is sufficient to improve the behavioral phenotype of male and female Mecp2-deficient mice.

21 January 2018

1 reference

Wild-type microglia arrest pathology in a mouse model of Rett syndrome

21 January 2018

1 reference

Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model

21 January 2018

1 reference

Minocycline treatment reverses ultrasonic vocalization production deficit in a mouse model of Fragile X Syndrome

21 January 2018

1 reference

Genetic reduction of muscarinic M4 receptor modulates analgesic response and acoustic startle response in a mouse model of fragile X syndrome (FXS).

21 January 2018

1 reference

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

21 January 2018

1 reference

Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior

21 January 2018

1 reference

Fingolimod, a sphingosine-1 phosphate receptor modulator, increases BDNF levels and improves symptoms of a mouse model of Rett syndrome.

21 January 2018

1 reference

Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits

21 January 2018

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Risperidone in children with autism and serious behavioral problems

21 January 2018

1 reference

The Autistic Neuron: Troubled Translation?

21 January 2018

1 reference

Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders

21 January 2018

1 reference

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

21 January 2018

1 reference

Deregulation of EIF4E: a novel mechanism for autism.

21 January 2018

1 reference

Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy

21 January 2018

1 reference

Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis

21 January 2018

1 reference

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

21 January 2018

1 reference

Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin.

21 January 2018

1 reference

Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice

21 January 2018

1 reference

Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial.

21 January 2018

1 reference

Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis

21 January 2018

1 reference

Treatment of neurodevelopmental disorders in adulthood

21 January 2018

1 reference

Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice.

21 January 2018

1 reference

Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.

21 January 2018

1 reference

Repetitive self-grooming behavior in the BTBR mouse model of autism is blocked by the mGluR5 antagonist MPEP.

21 January 2018

1 reference

Shared synaptic pathophysiology in syndromic and nonsyndromic rodent models of autism.

21 January 2018

1 reference

Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome

21 January 2018

1 reference

Open-label add-on treatment trial of minocycline in fragile X syndrome

21 January 2018

1 reference

Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures

21 January 2018

1 reference

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

21 January 2018

1 reference

Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission.

21 January 2018

1 reference

Reversal of disease-related pathologies in the fragile X mouse model by selective activation of GABAB receptors with arbaclofen.

21 January 2018

1 reference

A randomised controlled trial of bumetanide in the treatment of autism in children

21 January 2018

1 reference

Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome--Mecp2 gene dosage effects and BDNF expression

21 January 2018

1 reference

Social peers rescue autism-relevant sociability deficits in adolescent mice.

21 January 2018

1 reference

Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits

21 January 2018

1 reference

Early behavioral intervention is associated with normalized brain activity in young children with autism

21 January 2018

1 reference

Fmr1 KO mice as a possible model of autistic features.

21 January 2018

1 reference

A systematic review of medical treatments for children with autism spectrum disorders

21 January 2018

1 reference

Synapse dysfunction in autism: a molecular medicine approach to drug discovery in neurodevelopmental disorders

21 January 2018

1 reference

Rare diseases, orphan drugs and their regulation: questions and misconceptions

21 January 2018

1 reference

Lack of efficacy of citalopram in children with autism spectrum disorders and high levels of repetitive behavior: citalopram ineffective in children with autism

21 January 2018

1 reference

A nationwide survey on quality of life and associated factors of adults with high-functioning autism spectrum disorders

21 January 2018

1 reference

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

21 January 2018

1 reference

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

21 January 2018

1 reference

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

21 January 2018

1 reference

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

21 January 2018

1 reference

Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders

21 January 2018

1 reference

Rett syndrome diagnostic criteria: lessons from the Natural History Study

21 January 2018

1 reference

Using whole-exome sequencing to identify inherited causes of autism

21 January 2018

1 reference

Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons

21 January 2018

1 reference

HDAC4 governs a transcriptional program essential for synaptic plasticity and memory

21 January 2018

1 reference

Neuronal regulation of alternative pre-mRNA splicing

21 January 2018

1 reference

Mechanisms of dendritic mRNA transport and its role in synaptic tagging.

21 January 2018

1 reference

Bassoon and Piccolo maintain synapse integrity by regulating protein ubiquitination and degradation

21 January 2018

1 reference

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

21 January 2018

1 reference

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

21 January 2018

1 reference

FMRP targets distinct mRNA sequence elements to regulate protein expression

21 January 2018

1 reference

21 January 2018

1 reference

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

21 January 2018

1 reference

Genetic advances in autism: heterogeneity and convergence on shared pathways

21 January 2018

1 reference

Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP.

21 January 2018

1 reference

Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

21 January 2018

1 reference

Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome.

21 January 2018

1 reference

Pharmacological treatment of Rett syndrome improves breathing and survival in a mouse model

21 January 2018

1 reference

Oral treatment with desipramine improves breathing and life span in Rett syndrome mouse model

21 January 2018

1 reference

Absence of deficits in social behaviors and ultrasonic vocalizations in later generations of mice lacking neuroligin4.

21 January 2018

1 reference

12 December 2020

Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function

1 reference

12 December 2020

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

1 reference

12 December 2020

Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density

1 reference

12 December 2020

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

1 reference

12 December 2020

Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial

1 reference

12 December 2020

Dendritic protein synthesis in the normal and diseased brain

1 reference

12 December 2020

Identifiers

DOI

10.1038/NM.3193

1 reference

PubMed ID

23744158

Dimensions Publication ID

29 August 2017

0 references

1 reference

PubMed ID

23744158