Related references
Note: Only part of the references are listed.Bassoon and Piccolo maintain synapse integrity by regulating protein ubiquitination and degradation
Clarissa L. Waites et al.
EMBO JOURNAL (2013)
Selective preservation of MeCP2 in catecholaminergic cells is sufficient to improve the behavioral phenotype of male and female Mecp2-deficient mice
Min Lang et al.
HUMAN MOLECULAR GENETICS (2013)
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
David Neal Franz et al.
LANCET (2013)
Autism-related deficits via dysregulated eIF4E-dependent translational control
Christos G. Gkogkas et al.
NATURE (2013)
Activity-dependent neuronal signalling and autism spectrum disorder
Daniel H. Ebert et al.
NATURE (2013)
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Timothy W. Yu et al.
NEURON (2013)
Lovastatin Corrects Excess Protein Synthesis and Prevents Epileptogenesis in a Mouse Model of Fragile X Syndrome
Emily K. Osterweil et al.
NEURON (2013)
AMPAKINE enhancement of social interaction in the BTBR mouse model of autism
J. L. Silverman et al.
NEUROPHARMACOLOGY (2013)
Allen Brain Atlas: an integrated spatio-temporal portal for exploring the central nervous system
Susan M. Sunkin et al.
NUCLEIC ACIDS RESEARCH (2013)
Developmental Trajectories in Children With and Without Autism Spectrum Disorders: The First 3Years
Rebecca J. Landa et al.
CHILD DEVELOPMENT (2013)
A nationwide survey on quality of life and associated factors of adults with high-functioning autism spectrum disorders
Yoko Kamio et al.
AUTISM (2013)
Differences in White Matter Fiber Tract Development Present From 6 to 24 Months in Infants With Autism
Jason J. Wolff et al.
AMERICAN JOURNAL OF PSYCHIATRY (2012)
Genetic reduction of muscarinic M4 receptor modulates analgesic response and acoustic startle response in a mouse model of fragile X syndrome (FXS)
Surabi Veeraragavan et al.
BEHAVIOURAL BRAIN RESEARCH (2012)
Minocycline treatment reverses ultrasonic vocalization production deficit in a mouse model of Fragile X Syndrome
Sarah E. Rotschafer et al.
BRAIN RESEARCH (2012)
Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses
James P. Clement et al.
CELL (2012)
HDAC4 Governs a Transcriptional Program Essential for Synaptic Plasticity and Memory
Richard Sando et al.
CELL (2012)
Genetic architecture in autism spectrum disorder
Bernie Devlin et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2012)
Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model
S. M. Goebel-Goody et al.
GENES BRAIN AND BEHAVIOR (2012)
Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits
Melanie Lacaria et al.
HUMAN MOLECULAR GENETICS (2012)
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
Sara Conti et al.
JOURNAL OF CHILD NEUROLOGY (2012)
Treatment of Neurodevelopmental Disorders in Adulthood
Eero Castren et al.
JOURNAL OF NEUROSCIENCE (2012)
Early Behavioral Intervention Is Associated With Normalized Brain Activity in Young Children With Autism
Geraldine Dawson et al.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2012)
SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism
C. M. Durand et al.
MOLECULAR PSYCHIATRY (2012)
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons
Hsien-Sung Huang et al.
NATURE (2012)
Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission
Sung Han et al.
NATURE (2012)
Wild-type microglia arrest pathology in a mouse model of Rett syndrome
Noel C. Derecki et al.
NATURE (2012)
Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function
Hyejung Won et al.
NATURE (2012)
Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
Peter T. Tsai et al.
NATURE (2012)
FMRP targets distinct mRNA sequence elements to regulate protein expression
Manuel Ascano et al.
NATURE (2012)
Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin
Robert P. Carson et al.
NEUROBIOLOGY OF DISEASE (2012)
Simons Variation in Individuals Project (Simons VIP): A Genetics-First Approach to Studying Autism Spectrum and Related Neurodevelopmental Disorders
NEURON (2012)
Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice
Aubin Michalon et al.
NEURON (2012)
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Santhosh Girirajan et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Developmental Trajectories of Resting EEG Power: An Endophenotype of Autism Spectrum Disorder
Adrienne L. Tierney et al.
PLOS ONE (2012)
Six Developmental Trajectories Characterize Children With Autism
Christine Fountain et al.
PEDIATRICS (2012)
Fingolimod, a sphingosine-1 phosphate receptor modulator, increases BDNF levels and improves symptoms of a mouse model of Rett syndrome
Ruben Deogracias et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Shared Synaptic Pathophysiology in Syndromic and Nonsyndromic Rodent Models of Autism
Stephane J. Baudouin et al.
SCIENCE (2012)
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
Gaia Novarino et al.
SCIENCE (2012)
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Brian J. O'Roak et al.
SCIENCE (2012)
Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABAB Receptors with Arbaclofen
Christina Henderson et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: A Randomized, Controlled, Phase 2 Trial
Elizabeth M. Berry-Kravis et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Synapse dysfunction in autism: a molecular medicine approach to drug discovery in neurodevelopmental disorders
Will Spooren et al.
TRENDS IN PHARMACOLOGICAL SCIENCES (2012)
Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?
Willem M. A. Verhoeven et al.
NEUROPSYCHIATRIC DISEASE AND TREATMENT (2012)
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
Claire S. Leblond et al.
PLOS GENETICS (2012)
A randomised controlled trial of bumetanide in the treatment of autism in children
E. Lemonnier et al.
TRANSLATIONAL PSYCHIATRY (2012)
Social Peers Rescue Autism-Relevant Sociability Deficits in Adolescent Mice
Mu Yang et al.
AUTISM RESEARCH (2011)
Behavioral Profiles of Mouse Models for Autism Spectrum Disorders
Elodie Ey et al.
AUTISM RESEARCH (2011)
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Jennifer C. Darnell et al.
CELL (2011)
Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits
Olga Penagarikano et al.
CELL (2011)
Mechanisms of dendritic mRNA transport and its role in synaptic tagging
Michael Doyle et al.
EMBO JOURNAL (2011)
Spatio-temporal transcriptome of the human brain
Hyo Jung Kang et al.
NATURE (2011)
Mutations causing syndromic autism define an axis of synaptic pathophysiology
Benjamin D. Auerbach et al.
NATURE (2011)
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
Joao Peca et al.
NATURE (2011)
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
Brian J. O'Roak et al.
NATURE GENETICS (2011)
Reversal of Fragile X Phenotypes by Manipulation of AβPP/Aβ Levels in Fmr1KO Mice
Cara J. Westmark et al.
PLOS ONE (2011)
A Systematic Review of Medical Treatments for Children With Autism Spectrum Disorders
Melissa L. McPheeters et al.
PEDIATRICS (2011)
Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056
Sebastien Jacquemont et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders
Dan Ehninger et al.
TRENDS IN MOLECULAR MEDICINE (2011)
Autism: A Critical Period Disorder?
Jocelyn J. LeBlanc et al.
NEURAL PLASTICITY (2011)
Rett Syndrome Diagnostic Criteria: Lessons from the Natural History Study
Alan K. Percy et al.
ANNALS OF NEUROLOGY (2010)
Altered neuroligin expression is involved in social deficits in a mouse model of the fragile X syndrome
Regina Dahlhaus et al.
BEHAVIOURAL BRAIN RESEARCH (2010)
Open-label add-on treatment trial of minocycline in fragile X syndrome
Carlo Paribello et al.
BMC NEUROLOGY (2010)
Neuroligin-1 Deletion Results in Impaired Spatial Memory and Increased Repetitive Behavior
Jacqueline Blundell et al.
JOURNAL OF NEUROSCIENCE (2010)
Fine-tuning of pre-balanced excitation and inhibition during auditory cortical development
Yujiao J. Sun et al.
NATURE (2010)
Rare diseases, orphan drugs and their regulation: questions and misconceptions
Erik Tambuyzer
NATURE REVIEWS DRUG DISCOVERY (2010)
Repetitive Self-Grooming Behavior in the BTBR Mouse Model of Autism is Blocked by the mGluR5 Antagonist MPEP
Jill L. Silverman et al.
NEUROPSYCHOPHARMACOLOGY (2010)
Randomized, Controlled Trial of an Intervention for Toddlers With Autism: The Early Start Denver Model
Geraldine Dawson et al.
PEDIATRICS (2010)
The role of SAP97 in synaptic glutamate receptor dynamics
MacKenzie A. Howard et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia
Julie Gauthier et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Key role for gene dosage and synaptic homeostasis in autism spectrum disorders
Roberto Toro et al.
TRENDS IN GENETICS (2010)
The ESSENCE in child psychiatry: Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations
Christopher Gillberg
RESEARCH IN DEVELOPMENTAL DISABILITIES (2010)
Side Effects of Minocycline Treatment in Patients With Fragile X Syndrome and Exploration of Outcome Measures
Agustini Utari et al.
AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES (2010)
Lack of Efficacy of Citalopram in Children With Autism Spectrum Disorders and High Levels of Repetitive Behavior Citalopram Ineffective in Children With Autism
Bryan H. King et al.
ARCHIVES OF GENERAL PSYCHIATRY (2009)
Atypical Face Versus Object Processing and Hemispheric Asymmetries in 10-Month-Old Infants at Risk for Autism
Joseph P. McCleery et al.
BIOLOGICAL PSYCHIATRY (2009)
Genetic advances in autism: heterogeneity and convergence on shared pathways
Brent R. Bill et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2009)
Deregulation of EIF4E: a novel mechanism for autism
M. Neves-Pereira et al.
JOURNAL OF MEDICAL GENETICS (2009)
Pharmacological Inhibition of mTORC1 Suppresses Anatomical, Cellular, and Behavioral Abnormalities in Neural-Specific Pten Knock-Out Mice
Jing Zhou et al.
JOURNAL OF NEUROSCIENCE (2009)
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Joseph T. Glessner et al.
NATURE (2009)
Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice
Daniela Tropea et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model
T. V. Bilousova et al.
JOURNAL OF MEDICAL GENETICS (2009)
Developmental course of autistic social impairment in males
John N. Constantino et al.
DEVELOPMENT AND PSYCHOPATHOLOGY (2009)
Reversal of Sensorimotor Gating Abnormalities in Fmr1 Knockout Mice Carrying a Human FMR1 Transgene
Richard Paylor et al.
BEHAVIORAL NEUROSCIENCE (2008)
Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene
Corinne A. Spencer et al.
BEHAVIORAL NEUROSCIENCE (2008)
The Autistic Neuron: Troubled Translation?
Raymond J. Kelleher et al.
CELL (2008)
Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome -: Mecp2 gene dosage effects and BDNF expression
Mari Kondo et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2008)
Failure of neuronal homeostasis results in common neuropsychiatric phenotypes
Melissa B. Ramocki et al.
NATURE (2008)
Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis
Dan Ehninger et al.
NATURE MEDICINE (2008)
Advances in autism genetics: on the threshold of a new neurobiology
Brett S. Abrahams et al.
NATURE REVIEWS GENETICS (2008)
Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis
John J. Bissler et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Oral treatment with desipramine improves breathing and life span in Rett syndrome mouse model
Sebastien Zanella et al.
RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY (2008)
Neuronal regulation of alternative pre-mRNA splicing
Qin Li et al.
NATURE REVIEWS NEUROSCIENCE (2007)
Neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice
Katsuhiko Tabuchi et al.
SCIENCE (2007)
Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome
Michael Ogier et al.
JOURNAL OF NEUROSCIENCE (2007)
Reversal of neurological defects in a mouse model of Rett syndrome
Jacky Guy et al.
SCIENCE (2007)
Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2
Emanuela Giacometti et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
The disease progression mutant mice is affected of Mecp2 by the level of BDNF expression
QA Chang et al.
NEURON (2006)
Fmr1 KO mice as a possible model of autistic features
Maude Bernardet et al.
THESCIENTIFICWORLDJOURNAL (2006)
Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP
QJ Yan et al.
NEUROPHARMACOLOGY (2005)
Critical period plasticity in local cortical circuits
TK Hensch
NATURE REVIEWS NEUROSCIENCE (2005)
Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome
L Restivo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
When is the brain enlarged in autism? A meta-analysis of all brain size reports
E Redcay et al.
BIOLOGICAL PSYCHIATRY (2005)
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
MG Butler et al.
JOURNAL OF MEDICAL GENETICS (2005)
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
S Jamain et al.
NATURE GENETICS (2003)
Risperidone in children with autism and serious behavioral problems
JT McCracken et al.
NEW ENGLAND JOURNAL OF MEDICINE (2002)
(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features
AM Peier et al.
HUMAN MOLECULAR GENETICS (2000)