(Q38992291)

8 September 2017

1 reference

title

Lessons learned from studying syndromic autism spectrum disorders (English)

1 reference

8 September 2017

main subject

autism spectrum disorder

0 references

0 references

1 reference

Huda Y Zoghbi

2

0 references

author name string

Yehezkel Sztainberg

series ordinal

1

1 reference

8 September 2017

language of work or name

English

0 references

publication date

1 October 2016

1 reference

8 September 2017

1 reference

8 September 2017

volume

19

1 reference

8 September 2017

issue

11

1 reference

8 September 2017

page(s)

1408-1417

1 reference

Pervasive Developmental Disorders in Preschool Children

8 September 2017

cites work

1 reference

Costs of autism spectrum disorders in the United Kingdom and the United States

21 January 2018

1 reference

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

1 reference

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

21 January 2018

1 reference

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

1 reference

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease

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

The familial risk of autism

21 January 2018

1 reference

A genome-wide linkage and association scan reveals novel loci for autism

21 January 2018

1 reference

A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p.

21 January 2018

1 reference

Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

21 January 2018

1 reference

Individual common variants exert weak effects on the risk for autism spectrum disorders

21 January 2018

1 reference

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

21 January 2018

1 reference

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

21 January 2018

1 reference

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

21 January 2018

1 reference

De Novo Gene Disruptions in Children on the Autistic Spectrum

21 January 2018

1 reference

The contribution of de novo coding mutations to autism spectrum disorder

21 January 2018

1 reference

Prevalence of tuberous sclerosis estimated by capture-recapture analysis.

21 January 2018

1 reference

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

1 reference

Identification and characterization of the tuberous sclerosis gene on chromosome 16

21 January 2018

1 reference

Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis.

21 January 2018

1 reference

Characterization of autism in young children with tuberous sclerosis complex.

21 January 2018

1 reference

Symptom profiles of autism spectrum disorder in tuberous sclerosis complex

21 January 2018

1 reference

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

21 January 2018

1 reference

Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex

21 January 2018

1 reference

Reciprocal signaling between translational control pathways and synaptic proteins in autism spectrum disorders

21 January 2018

1 reference

A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.

21 January 2018

1 reference

Fragile X and X-linked intellectual disability: four decades of discovery

21 January 2018

1 reference

FMR1 premutation and full mutation molecular mechanisms related to autism

21 January 2018

1 reference

Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

21 January 2018

1 reference

Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP.

21 January 2018

1 reference

The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.

21 January 2018

1 reference

Behavioural and cognitive phenotypes in idiopathic autism versus autism associated with fragile X syndrome.

21 January 2018

1 reference

Behavioral phenotype of fragile X syndrome in adolescence and adulthood

21 January 2018

1 reference

Evidence of a distinct behavioral phenotype in young boys with fragile X syndrome and autism

21 January 2018

1 reference

Autism in Fragile X Syndrome: A Category Mistake?

21 January 2018

1 reference

DNA methylation represses FMR-1 transcription in fragile X syndrome

21 January 2018

1 reference

A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability

21 January 2018

1 reference

FMRP RNA targets: identification and validation

21 January 2018

1 reference

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

21 January 2018

1 reference

The mGluR theory of fragile X mental retardation

21 January 2018

1 reference

Decreased expression of the GABAA receptor in fragile X syndrome

21 January 2018

1 reference

The story of Rett syndrome: from clinic to neurobiology

21 January 2018

1 reference

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

21 January 2018

1 reference

Rett syndrome: exploring the autism link

21 January 2018

1 reference

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities

21 January 2018

1 reference

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

21 January 2018

1 reference

Reversal of neurological defects in a mouse model of Rett syndrome

21 January 2018

1 reference

Adult neural function requires MeCP2.

21 January 2018

1 reference

XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.

21 January 2018

1 reference

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

21 January 2018

1 reference

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

21 January 2018

1 reference

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

21 January 2018

1 reference

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

21 January 2018

1 reference

The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism

21 January 2018

1 reference

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

21 January 2018

1 reference

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

21 January 2018

1 reference

Perspective: Enforce the clinical guidelines.

21 January 2018

1 reference

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

21 January 2018

1 reference

The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder

21 January 2018

1 reference

Down syndrome: the brain in trisomic mode

21 January 2018

1 reference

Aggressive behavioral phenotypes in mice

21 January 2018

1 reference

The mouse that roared: neural mechanisms of social hierarchy

21 January 2018

1 reference

Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links.

21 January 2018

1 reference

In search of the neurobiological substrates for social playfulness in mammalian brains

21 January 2018

1 reference

Exploring the Validity of Valproic Acid Animal Model of Autism

21 January 2018

1 reference

The critical period of valproate exposure to induce autistic symptoms in Sprague-Dawley rats

21 January 2018

1 reference

Animal model of autism induced by prenatal exposure to valproate: behavioral changes and liver parameters.

21 January 2018

1 reference

Behavioral alterations in rats prenatally exposed to valproic acid: animal model of autism

21 January 2018

1 reference

Gender-specific behavioral and immunological alterations in an animal model of autism induced by prenatal exposure to valproic acid

21 January 2018

1 reference

Degraded neural and behavioral processing of speech sounds in a rat model of Rett syndrome.

21 January 2018

1 reference

Conserved hippocampal cellular pathophysiology but distinct behavioural deficits in a new rat model of FXS.

21 January 2018

1 reference

Phenotypic characterization of nonsocial behavioral impairment in neurexin 1α knockout rats

21 January 2018

1 reference

Maternal infection and immune involvement in autism

21 January 2018

1 reference

Stereotypies and hyperactivity in rhesus monkeys exposed to IgG from mothers of children with autism

21 January 2018

1 reference

Maternal antibodies from mothers of children with autism alter brain growth and social behavior development in the rhesus monkey

21 January 2018

1 reference

Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2.

21 January 2018

1 reference

A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells

21 January 2018

1 reference

Altered neuronal network and rescue in a human MECP2 duplication model.

21 January 2018

1 reference

Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells

21 January 2018

1 reference

Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader–Willi syndromes

21 January 2018

1 reference

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

21 January 2018

1 reference

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

21 January 2018

1 reference

FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders

21 January 2018

1 reference

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

21 January 2018

1 reference

Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders

21 January 2018

1 reference

MeCP2, a key contributor to neurological disease, activates and represses transcription

21 January 2018

1 reference

The Autistic Neuron: Troubled Translation?

21 January 2018

1 reference

Activity-dependent neuronal signalling and autism spectrum disorder

21 January 2018

1 reference

Deficient neuron-microglia signaling results in impaired functional brain connectivity and social behavior.

21 January 2018

1 reference

The translation of translational control by FMRP: therapeutic targets for FXS.

21 January 2018

1 reference

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

21 January 2018

1 reference

MECP2 disorders: from the clinic to mice and back

21 January 2018

1 reference

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

21 January 2018

1 reference

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

21 January 2018

1 reference

Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies

21 January 2018

1 reference

A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

21 January 2018

1 reference

An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders

21 January 2018

1 reference

Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice

21 January 2018

1 reference

Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor

21 January 2018

1 reference

A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission

21 January 2018

1 reference

Identification of MeCP2 mutations in a series of females with autistic disorder

21 January 2018

1 reference

Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism

21 January 2018

1 reference

Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders

21 January 2018

1 reference

Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation

21 January 2018

1 reference

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

21 January 2018

1 reference

Autism-associated gene expression in peripheral leucocytes commonly observed between subjects with autism and healthy women having autistic children

21 January 2018

1 reference

Elevated transcription factor specificity protein 1 in autistic brains alters the expression of autism candidate genes.

21 January 2018

1 reference

Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice

21 January 2018

1 reference

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

21 January 2018

1 reference

Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

A magnetic resonance imaging study of cerebellar volume in tuberous sclerosis complex

21 January 2018

1 reference

Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration

21 January 2018

1 reference

Neuroanatomic observations of the brain in autism: a review and future directions

21 January 2018

1 reference

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

21 January 2018

1 reference

Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex.

21 January 2018

1 reference

Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1

21 January 2018

1 reference

Correction of fragile X syndrome in mice.

21 January 2018

1 reference

Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.

21 January 2018

1 reference

Adult restoration of Shank3 expression rescues selective autistic-like phenotypes

21 January 2018

1 reference

Evidence-based comprehensive treatments for early autism

21 January 2018

1 reference

Interventions to improve communication in autism

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

Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR

21 January 2018

1 reference

Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2-null mice

21 January 2018

1 reference

Potential therapeutic interventions for fragile X syndrome

21 January 2018

1 reference

Clinical trials for neurodevelopmental disorders: At a therapeutic frontier.

21 January 2018

1 reference

Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice.

21 January 2018

1 reference

Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome

21 January 2018

1 reference

Gene-targeting pharmaceuticals for single-gene disorders

21 January 2018

1 reference

Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice

21 January 2018

1 reference

From the genetic architecture to synaptic plasticity in autism spectrum disorder

21 January 2018

1 reference

Removing brakes on adult brain plasticity: from molecular to behavioral interventions

21 January 2018

1 reference

Treatment of neurodevelopmental disorders in adulthood

21 January 2018

1 reference

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

21 January 2018

1 reference

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

21 January 2018

1 reference

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

21 January 2018

1 reference

12 December 2020

Modeling autism spectrum disorders with human neurons

1 reference

12 December 2020

Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010

1 reference

12 December 2020

On a unusual brain atrophy syndrome in hyperammonemia in childhood

1 reference

12 December 2020

Evidence that the gene for tuberous sclerosis is on chromosome 9

1 reference

12 December 2020

Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides

1 reference

12 December 2020

1 reference

12 December 2020

The relationship of Rett syndrome and MECP2 disorders to autism.

1 reference

12 December 2020

What We Have Learned about Autism Spectrum Disorder from Valproic Acid

1 reference

12 December 2020

EVIDENCE THAT THE GENE FOR TUBEROUS SCLEROSIS IS ON CHROMOSOME 9

1 reference

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NN.4420

1 reference

8 September 2017

1 reference