Lessons learned from studying syndromic autism spectrum disorders

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

(2016) Zhen Liu et al.   NATURE

Adult restoration of Shank3 expression rescues selective autistic-like phenotypes

(2016) Yuan Mei et al.   NATURE

Symptom profiles of autism spectrum disorder in tuberous sclerosis complex

(2016) Shafali S. Jeste et al.   NEUROLOGY

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

(2016) S.W. Hulbert et al.   NEUROSCIENCE

Clinical trials for neurodevelopmental disorders: At a therapeutic frontier

(2016) Shafali S. Jeste et al.   Science Translational Medicine

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

(2015) Frederic Esclassan et al.   BEHAVIORAL NEUROSCIENCE

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

(2015) Jessica Mariani et al.   CELL

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

(2015) Sally M. Till et al.   HUMAN MOLECULAR GENETICS

Gene-targeting pharmaceuticals for single-gene disorders

(2015) Arthur L. Beaudet et al.   HUMAN MOLECULAR GENETICS

MECP2 disorders: from the clinic to mice and back

(2015) Laura Marie Lombardi et al.   JOURNAL OF CLINICAL INVESTIGATION

Altered neuronal network and rescue in a human MECP2 duplication model

(2015) S Nageshappa et al.   MOLECULAR PSYCHIATRY

Perspective: Enforce the clinical guidelines

(2015) Monique Roobol   NATURE

Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice

(2015) Shuang Hao et al.   NATURE

From the genetic architecture to synaptic plasticity in autism spectrum disorder

(2015) Thomas Bourgeron   NATURE REVIEWS NEUROSCIENCE

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

(2015) Crystal T. Engineer et al.   NEUROBIOLOGY OF DISEASE

Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders

(2015) Sacha B. Nelson et al.   NEURON

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

(2015) Aya Ito-Ishida et al.   NEURON

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

(2015) Vincenzo A Gennarino et al.   eLife

Exploring the Validity of Valproic Acid Animal Model of Autism

(2015) Darine Froy N. Mabunga et al.   Experimental Neurobiology

The Familial Risk of Autism

(2014) Sven Sandin et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR

(2014) A Oguro-Ando et al.   MOLECULAR PSYCHIATRY

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

(2014) K Griesi-Oliveira et al.   MOLECULAR PSYCHIATRY

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

(2014) Linyan Meng et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

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

(2014) Yang Zhan et al.   NATURE NEUROSCIENCE

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

(2014) Jorge Castro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2014) E. Santini et al.   Science Signaling

The mouse that roared: neural mechanisms of social hierarchy

(2014) Fei Wang et al.   TRENDS IN NEUROSCIENCES

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

(2014) Laura Dean Heckman et al.   eLife

Costs of Autism Spectrum Disorders in the United Kingdom and the United States

(2014) Ariane V. S. Buescher et al.   JAMA Pediatrics

An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders

(2013) Steven Andrew Baker et al.   CELL

Systemic Delivery of MeCP2 Rescues Behavioral and Cellular Deficits in Female Mouse Models of Rett Syndrome

(2013) S. K. Garg et al.   JOURNAL OF NEUROSCIENCE

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

(2013)   LANCET

Activity-dependent neuronal signalling and autism spectrum disorder

(2013) Daniel H. Ebert et al.   NATURE

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

(2013) Matthew J Lyst et al.   NATURE NEUROSCIENCE

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

(2013) Jennifer C Darnell et al.   NATURE NEUROSCIENCE

A Magnetic Resonance Imaging Study of Cerebellar Volume in Tuberous Sclerosis Complex

(2013) Neil I. Weisenfeld et al.   PEDIATRIC NEUROLOGY

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

(2013) Latha Soorya et al.   Molecular Autism

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

(2013) M D Bauman et al.   Translational Psychiatry

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Behavioral Phenotype inMECP2Duplication Syndrome: A Comparison With Idiopathic Autism

(2012) Sarika U. Peters et al.   Autism Research

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

(2012) Richard Anney et al.   HUMAN MOLECULAR GENETICS

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

(2012) Rodney C. Samaco et al.   HUMAN MOLECULAR GENETICS

A Mouse Model for MeCP2 Duplication Syndrome: MeCP2 Overexpression Impairs Learning and Memory and Synaptic Transmission

(2012) E. S. Na et al.   JOURNAL OF NEUROSCIENCE

Treatment of Neurodevelopmental Disorders in Adulthood

(2012) E. Castren et al.   JOURNAL OF NEUROSCIENCE

Evidence of a Distinct Behavioral Phenotype in Young Boys With Fragile X Syndrome and Autism

(2012) Jason J. Wolff et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Improved Survival and Reduced Phenotypic Severity Following AAV9/MECP2 Gene Transfer to Neonatal and Juvenile Male Mecp2 Knockout Mice

(2012) Kamal KE Gadalla et al.   MOLECULAR THERAPY

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

(2012) Sung Han et al.   NATURE

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

(2012) Peter T. Tsai et al.   NATURE

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

(2012) Stephan J. Sanders et al.   NATURE

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

(2012) Brian J. O’Roak et al.   NATURE

Down syndrome: the brain in trisomic mode

(2012) Mara Dierssen   NATURE REVIEWS NEUROSCIENCE

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

(2012) R. Michelle Reith et al.   NEUROBIOLOGY OF DISEASE

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Shared Synaptic Pathophysiology in Syndromic and Nonsyndromic Rodent Models of Autism

(2012) S. J. Baudouin et al.   SCIENCE

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

(2012) Will Spooren et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

(2012) H. Y. Zoghbi et al.   Cold Spring Harbor Perspectives in Biology

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

(2012) Atsushi Sato et al.   Nature Communications

Rett Syndrome

(2011) Alan K. Percy   ARCHIVES OF NEUROLOGY

Elevated Transcription Factor Specificity Protein 1 in Autistic Brains Alters the Expression of Autism Candidate Genes

(2011) Ismail Thanseem et al.   BIOLOGICAL PSYCHIATRY

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

(2011) Victorio Bambini-Junior et al.   BRAIN RESEARCH

FMR1 premutation and full mutation molecular mechanisms related to autism

(2011) Randi Hagerman et al.   Journal of Neurodevelopmental Disorders

Autism in Fragile X Syndrome: A Category Mistake?

(2011) Scott S. Hall et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

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

(2011) Sergiu P Paşca et al.   NATURE MEDICINE

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

(2011) R. Michelle Reith et al.   NEUROBIOLOGY OF DISEASE

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

(2011) Stephan J. Sanders et al.   NEURON

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

(2011) Stephen M. Siviy et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Autism-Associated Gene Expression in Peripheral Leucocytes Commonly Observed between Subjects with Autism and Healthy Women Having Autistic Children

(2011) Yuki Kuwano et al.   PLoS One

Adult Neural Function Requires MeCP2

(2011) C. M. McGraw et al.   SCIENCE

Maternal infection and immune involvement in autism

(2011) Paul H. Patterson   TRENDS IN MOLECULAR MEDICINE

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

(2010) Maria C.N. Marchetto et al.   CELL

Differential Modeling of Fragile X Syndrome by Human Embryonic Stem Cells and Induced Pluripotent Stem Cells

(2010) Achia Urbach et al.   Cell Stem Cell

Exogenous Brain-Derived Neurotrophic Factor Rescues Synaptic Dysfunction in Mecp2-Null Mice

(2010) D. D. Kline et al.   JOURNAL OF NEUROSCIENCE

Removing Brakes on Adult Brain Plasticity: From Molecular to Behavioral Interventions

(2010) D. Bavelier et al.   JOURNAL OF NEUROSCIENCE

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

(2010) Hsiao-Tuan Chao et al.   NATURE

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

(2010) Stormy J. Chamberlain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2010) Ki Chan Kim et al.   TOXICOLOGY LETTERS

Potential therapeutic interventions for fragile X syndrome

(2010) Josien Levenga et al.   TRENDS IN MOLECULAR MEDICINE

Autism and other neuropsychiatric symptoms are prevalent in individuals withMeCP2duplication syndrome

(2009) Melissa B. Ramocki et al.   ANNALS OF NEUROLOGY

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

(2009) Regina Dahlhaus et al.   BEHAVIOURAL BRAIN RESEARCH

Pharmacological Inhibition of mTORC1 Suppresses Anatomical, Cellular, and Behavioral Abnormalities in Neural-Specific Pten Knock-Out Mice

(2009) J. Zhou et al.   JOURNAL OF NEUROSCIENCE

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

(2009) Lauren A. Weiss et al.   NATURE

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

(2009) Daniela Tropea et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2008) Loren A. Martin et al.   BRAIN BEHAVIOR AND IMMUNITY

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   CELL

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

(2008) Dorien Lugtenberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2008) C. S. Loat et al.   GENES BRAIN AND BEHAVIOR

Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

(2008) G Bradley Schaefer et al.   GENETICS IN MEDICINE

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

(2008) R. C. Samaco et al.   HUMAN MOLECULAR GENETICS

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

(2008) Cheryl Dissanayake et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Tuberous sclerosis

(2008) Paolo Curatolo et al.   LANCET

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

(2008) Melissa B. Ramocki et al.   NATURE

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

(2008) Dan Ehninger et al.   NATURE MEDICINE

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

(2008) Tomasz Schneider et al.   PSYCHONEUROENDOCRINOLOGY

MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription

(2008) M. Chahrour et al.   SCIENCE

Characterization of Autism in Young Children With Tuberous Sclerosis Complex

(2007) Shafali S. Jeste et al.   JOURNAL OF CHILD NEUROLOGY