Dysfunctional mTORC1 Signaling: A Convergent Mechanism between Syndromic and Nonsyndromic Forms of Autism Spectrum Disorder?

Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex

(2017) Ebru Ercan et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Dendritic Spine Instability in a Mouse Model of CDKL5 Disorder Is Rescued by Insulin-like Growth Factor 1

(2016) Grazia Della Sala et al.   BIOLOGICAL PSYCHIATRY

mTORC1–S6K1 inhibition or mTORC2 activation improves hippocampal synaptic plasticity and learning in Angelman syndrome mice

(2016) Jiandong Sun et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Brain and behaviour phenotyping of a mouse model of neurofibromatosis type-1: an MRI/DTI study on social cognition

(2016) L. I. Petrella et al.   GENES BRAIN AND BEHAVIOR

Lessons learned from studying syndromic autism spectrum disorders

(2016) Yehezkel Sztainberg et al.   NATURE NEUROSCIENCE

The mTOR signalling cascade: paving new roads to cure neurological disease

(2016) Peter B. Crino   Nature Reviews Neurology

Angelman syndrome — insights into a rare neurogenetic disorder

(2016) Karin Buiting et al.   Nature Reviews Neurology

Rapamycin prevents, but does not reverse, aberrant migration in Pten knockout neurons

(2016) Stephanie A. Getz et al.   NEUROBIOLOGY OF DISEASE

Layered hydrogels accelerate iPSC-derived neuronal maturation and reveal migration defects caused by MeCP2 dysfunction

(2016) Zhen-Ning Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hyperconnectivity of prefrontal cortex to amygdala projections in a mouse model of macrocephaly/autism syndrome

(2016) Wen-Chin Huang et al.   Nature Communications

Impaired Neurite Contact Guidance in Ubiquitin Ligase E3a (Ube3a)-Deficient Hippocampal Neurons on Nanostructured Substrates

(2016) I. Tonazzini et al.   Advanced Healthcare Materials

Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex

(2016) Darius Ebrahimi-Fakhari et al.   Cell Reports

Increased expression of the PI3K catalytic subunit p110δ underlies elevated S6 phosphorylation and protein synthesis in an individual with autism from a multiplex family

(2016) Ashwini C. Poopal et al.   Molecular Autism

Of mothers and myelin: Aberrant myelination phenotypes in mouse model of Angelman syndrome are dependent on maternal and dietary influences

(2015) Mark D. Grier et al.   BEHAVIOURAL BRAIN RESEARCH

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

(2015) Laura A. Jansen et al.   BRAIN

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

(2015) Jessica Mariani et al.   CELL

Autism and the synapse

(2015) Darius Ebrahimi-Fakhari et al.   CURRENT OPINION IN NEUROLOGY

Cerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerisms

(2015) Stephan CJ Huijbregts et al.   Journal of Neurodevelopmental Disorders

Imbalanced Mechanistic Target of Rapamycin C1 and C2 Activity in the Cerebellum of Angelman Syndrome Mice Impairs Motor Function

(2015) J. Sun et al.   JOURNAL OF NEUROSCIENCE

The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex

(2015) D. Nie et al.   JOURNAL OF NEUROSCIENCE

Functional Deficiencies in Fragile X Neurons Derived from Human Embryonic Stem Cells

(2015) M. Telias et al.   JOURNAL OF NEUROSCIENCE

Dysregulation of Mammalian Target of Rapamycin Signaling in Mouse Models of Autism

(2015) K. M. Huber et al.   JOURNAL OF NEUROSCIENCE

Hyperactivity of Newborn Pten Knock-out Neurons Results from Increased Excitatory Synaptic Drive

(2015) M. R. Williams et al.   JOURNAL OF NEUROSCIENCE

Altered mTORC1 signaling in multipotent stem cells from nearly 25% of patients with nonsyndromic autism spectrum disorders

(2015) A M Suzuki et al.   MOLECULAR PSYCHIATRY

From the genetic architecture to synaptic plasticity in autism spectrum disorder

(2015) Thomas Bourgeron   NATURE REVIEWS NEUROSCIENCE

MECP2e1 isoform mutation affects the form and function of neurons derived from Rett syndrome patient iPS cells

(2015) Ugljesa Djuric et al.   NEUROBIOLOGY OF DISEASE

Cortical maturation and myelination in healthy toddlers and young children

(2015) Sean C.L. Deoni et al.   NEUROIMAGE

Impaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis Complex

(2015) Uk Yeol Moon et al.   Cell Reports

Persistent astrocyte activation in the fragile X mouse cerebellum

(2015) Laura K. K. Pacey et al.   Brain and Behavior

Decreased mTOR signaling pathway in human idiopathic autism and in rats exposed to valproic acid

(2015) Chiara Nicolini et al.   Acta Neuropathologica Communications

mTOR Inhibitors in Tuberous Sclerosis Complex

(2015) Paolo Curatolo et al.   Current Neuropharmacology

Toward a Broader View of Ube3a in a Mouse Model of Angelman Syndrome: Expression in Brain, Spinal Cord, Sciatic Nerve and Glial Cells

(2015) Mark D. Grier et al.   PLoS One

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening

(2014) Maria Marchese et al.   BMC Medical Genetics

Spatial Control of the TSC Complex Integrates Insulin and Nutrient Regulation of mTORC1 at the Lysosome

(2014) Suchithra Menon et al.   CELL

Developmental brain abnormalities in tuberous sclerosis complex: A comparative tissue analysis of cortical tubers and perituberal cortex

(2014) Véronique Ruppe et al.   EPILEPSIA

NF1 regulation of RAS/ERK signaling is required for appropriate granule neuron progenitor expansion and migration in cerebellar development

(2014) Efrain Sanchez-Ortiz et al.   GENES & DEVELOPMENT

Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons

(2014) Emily Cunningham Williams et al.   HUMAN MOLECULAR GENETICS

Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1

(2014) Alessia Di Nardo et al.   HUMAN MOLECULAR GENETICS

The Familial Risk of Autism

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

Changes in mGlu5 Receptor-Dependent Synaptic Plasticity and Coupling to Homer Proteins in the Hippocampus of Ube3A Hemizygous Mice Modeling Angelman Syndrome

(2014) M. Pignatelli et al.   JOURNAL OF NEUROSCIENCE

Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR

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

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Most genetic risk for autism resides with common variation

(2014) Trent Gaugler et al.   NATURE GENETICS

FMRP regulates multipolar to bipolar transition affecting neuronal migration and cortical circuitry

(2014) Giorgio La Fata et al.   NATURE NEUROSCIENCE

The role of de novo mutations in the genetics of autism spectrum disorders

(2014) Michael Ronemus et al.   NATURE REVIEWS GENETICS

Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a Neurofibromatosis Clinical Trials Consortium phase II study

(2014) B. Weiss et al.   NEURO-ONCOLOGY

Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning Deficits

(2014) Guomei Tang et al.   NEURON

The Neurology of mTOR

(2014) Jonathan O. Lipton et al.   NEURON

Patches of Disorganization in the Neocortex of Children with Autism

(2014) Rich Stoner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sirolimus Improves Pain in NF1 Patients With Severe Plexiform Neurofibromas

(2014) C. Hua et al.   PEDIATRICS

FMRP S499 Is Phosphorylated Independent of mTORC1-S6K1 Activity

(2014) Christopher M. Bartley et al.   PLoS One

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

iPSC-Derived Forebrain Neurons from FXS Individuals Show Defects in Initial Neurite Outgrowth

(2014) Matthew E. Doers et al.   STEM CELLS AND DEVELOPMENT

Developmental and maintenance defects in Rett syndrome neurons identified by a new mouse staging system in vitro

(2014) Gabriele Baj et al.   Frontiers in Cellular Neuroscience

Enhanced synapse remodelling as a common phenotype in mouse models of autism

(2014) Masaaki Isshiki et al.   Nature Communications

Cerebellar plasticity and motor learning deficits in a copy-number variation mouse model of autism

(2014) Claire Piochon et al.   Nature Communications

Activation of Rheb, but not of mTORC1, impairs spine synapse morphogenesis in tuberous sclerosis complex

(2014) Shin Yasuda et al.   Scientific Reports

Pharmacogenetic Inhibition of eIF4E-Dependent Mmp9 mRNA Translation Reverses Fragile X Syndrome-like Phenotypes

(2014) Christos G. Gkogkas et al.   Cell Reports

Transient inhibition of the ERK pathway prevents cerebellar developmental defects and improves long-term motor functions in murine models of neurofibromatosis type 1

(2014) Edward Kim et al.   eLife

The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines

(2014) M Pathania et al.   Translational Psychiatry

Evidence linking oxidative stress, mitochondrial dysfunction, and inflammation in the brain of individuals with autism

(2014) Daniel A. Rossignol et al.   Frontiers in Physiology

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly andPTENmutations

(2013) Adeline Vanderver et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Global Transcriptional and Translational Repression in Human-Embryonic-Stem-Cell-Derived Rett Syndrome Neurons

(2013) Yun Li et al.   Cell Stem Cell

Epilepsy in individuals with neurofibromatosis type 1

(2013) Adam P. Ostendorf et al.   EPILEPSIA

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly

(2013) Judith A Hobert et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Conditional and domain-specific inactivation of theTsc2gene in neural progenitor cells

(2013) Cary Fu et al.   GENESIS

Delayed myelination in a mouse model of fragile X syndrome

(2013) L. K. K. Pacey et al.   HUMAN MOLECULAR GENETICS

Ablation of the mTORC2 component rictor in brain or Purkinje cells affects size and neuron morphology

(2013) Venus Thomanetz et al.   JOURNAL OF CELL BIOLOGY

The Angelman Syndrome Protein Ube3a Is Required for Polarized Dendrite Morphogenesis in Pyramidal Neurons

(2013) S. Miao et al.   JOURNAL OF NEUROSCIENCE

Dendritic Arborization and Spine Dynamics Are Abnormal in the Mouse Model of MECP2 Duplication Syndrome

(2013) M. Jiang et al.   JOURNAL OF NEUROSCIENCE

mTOR complexes in neurodevelopmental and neuropsychiatric disorders

(2013) Mauro Costa-Mattioli et al.   NATURE NEUROSCIENCE

Circuit level defects in the developing neocortex of Fragile X mice

(2013) J Tiago Gonçalves et al.   NATURE NEUROSCIENCE

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

(2013) Jennifer C Darnell et al.   NATURE NEUROSCIENCE

FMRP Regulates Neurotransmitter Release and Synaptic Information Transmission by Modulating Action Potential Duration via BK Channels

(2013) Pan-Yue Deng et al.   NEURON

CYFIP1 Coordinates mRNA Translation and Cytoskeleton Remodeling to Ensure Proper Dendritic Spine Formation

(2013) Silvia De Rubeis et al.   NEURON

Excitatory/Inhibitory Synaptic Imbalance Leads to Hippocampal Hyperexcitability in Mouse Models of Tuberous Sclerosis

(2013) Helen S. Bateup et al.   NEURON

Rett Syndrome and Epilepsy: An Update for Child Neurologists

(2013) Alison Dolce et al.   PEDIATRIC NEUROLOGY

Neurofibromatosis Type 1 and Autism Spectrum Disorder

(2013) S. Garg et al.   PEDIATRICS

Dysregulation of synaptic plasticity precedes appearance of morphological defects in a Pten conditional knockout mouse model of autism

(2013) K. Takeuchi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Magnetization Transfer Imaging Study of Corpus Callosum Myelination in Young Children with Autism

(2012) Marta Gozzi et al.   BIOLOGICAL PSYCHIATRY

mTOR Signaling in Growth Control and Disease

(2012) Mathieu Laplante et al.   CELL

Genetic architecture in autism spectrum disorder

(2012) Bernie Devlin et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Impaired induction of long-term potentiation-like plasticity in patients with high-functioning autism and Asperger syndrome

(2012) NIKOLAI H JUNG et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Reduction of BDNF expression inFmr1knockout mice worsens cognitive deficits but improves hyperactivity and sensorimotor deficits

(2012) M. Uutela et al.   GENES BRAIN AND BEHAVIOR

MeCP2 Is Critical for Maintaining Mature Neuronal Networks and Global Brain Anatomy during Late Stages of Postnatal Brain Development and in the Mature Adult Brain

(2012) M. V. C. Nguyen et al.   JOURNAL OF NEUROSCIENCE

LTP Induction Translocates Cortactin at Distant Synapses in Wild-Type But Not Fmr1 Knock-Out Mice

(2012) R. R. Seese et al.   JOURNAL OF NEUROSCIENCE

TBC1D7 Is a Third Subunit of the TSC1-TSC2 Complex Upstream of mTORC1

(2012) Christian C. Dibble et al.   MOLECULAR CELL

Autism-related deficits via dysregulated eIF4E-dependent translational control

(2012) Christos G. Gkogkas et al.   NATURE

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

(2012) Peter T. Tsai et al.   NATURE

Exaggerated translation causes synaptic and behavioural aberrations associated with autism

(2012) Emanuela Santini et al.   NATURE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale 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

The functions and regulation of the PTEN tumour suppressor

(2012) Min Sup Song et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Genetic Removal of p70 S6 Kinase 1 Corrects Molecular, Synaptic, and Behavioral Phenotypes in Fragile X Syndrome Mice

(2012) Aditi Bhattacharya et al.   NEURON

Maternal Loss of Ube3a Produces an Excitatory/Inhibitory Imbalance through Neuron Type-Specific Synaptic Defects

(2012) Michael L. Wallace et al.   NEURON

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Alterations in White Matter Microstructure in Neurofibromatosis-1

(2012) Katherine H. Karlsgodt et al.   PLoS One

Shared Synaptic Pathophysiology in Syndromic and Nonsyndromic Rodent Models of Autism

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

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

(2012) Atsushi Sato et al.   Nature Communications

Common genetic variants, acting additively, are a major source of risk for autism

(2012) Lambertus Klei et al.   Molecular Autism

Autism spectrum disorders and autistic traits: A decade of new twin studies

(2011) Angelica Ronald et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

Sustained Activation of mTOR Pathway in Embryonic Neural Stem Cells Leads to Development of Tuberous Sclerosis Complex-Associated Lesions

(2011) Laura Magri et al.   Cell Stem Cell

What Can We Learn about Autism from Studying Fragile X Syndrome?

(2011) Dejan B. Budimirovic et al.   DEVELOPMENTAL NEUROSCIENCE

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

(2011) Rachel D. Burnside et al.   HUMAN GENETICS

Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model

(2011) Sara Ricciardi et al.   HUMAN MOLECULAR GENETICS

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

(2011) Sara Conti et al.   JOURNAL OF CHILD NEUROLOGY

Valosin-containing protein and neurofibromin interact to regulate dendritic spine density

(2011) Hsiao-Fang Wang et al.   JOURNAL OF CLINICAL INVESTIGATION

Loss of Tsc1 In Vivo Impairs Hippocampal mGluR-LTD and Increases Excitatory Synaptic Function

(2011) H. S. Bateup et al.   JOURNAL OF NEUROSCIENCE

Pten Knockdown In Vivo Increases Excitatory Drive onto Dentate Granule Cells

(2011) B. W. Luikart et al.   JOURNAL OF NEUROSCIENCE

Mutations causing syndromic autism define an axis of synaptic pathophysiology

(2011) Benjamin D. Auerbach et al.   NATURE

The conundrums of understanding genetic risks for autism spectrum disorders

(2011) Matthew W State et al.   NATURE NEUROSCIENCE

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

(2011) Sarah R. Gilman et al.   NEURON

Epigenetic Characterization of the FMR1 Gene and Aberrant Neurodevelopment in Human Induced Pluripotent Stem Cell Models of Fragile X Syndrome

(2011) Steven D. Sheridan et al.   PLoS One

Neurofibromatosis-1 regulates mTOR-mediated astrocyte growth and glioma formation in a TSC/Rheb-independent manner

(2011) S. Banerjee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Increased Gene Dosage of Ube3a Results in Autism Traits and Decreased Glutamate Synaptic Transmission in Mice

(2011) S. E. P. Smith et al.   Science Translational Medicine

Epilepsy in Rett syndrome: Association between phenotype and genotype, and implications for practice

(2011) Basil Cardoza et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes

(2010) Jerzy Wegiel et al.   ACTA NEUROPATHOLOGICA

Angelman syndrome: Mutations influence features in early childhood

(2010) Wen-Hann Tan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prader-Willi syndrome and Angelman syndrome

(2010) Karin Buiting   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

(2010) Kim L. McBride et al.   Autism Research

Autism spectrum disorders and epilepsy: Moving towards a comprehensive approach to treatment

(2010) Roberto Tuchman et al.   BRAIN & DEVELOPMENT

Brain growth across the life span in autism: Age-specific changes in anatomical pathology

(2010) Eric Courchesne et al.   BRAIN RESEARCH

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

(2010) Catalina Betancur   BRAIN RESEARCH

The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc

(2010) Paul L. Greer et al.   CELL

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

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

Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of Tuberous Sclerosis Complex

(2010) L.-H. Zeng et al.   HUMAN MOLECULAR GENETICS

Lithium ameliorates phenotypic deficits in a mouse model of fragile X syndrome

(2010) Zhong-Hua Liu et al.   INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY

Excess Phosphoinositide 3-Kinase Subunit Synthesis and Activity as a Novel Therapeutic Target in Fragile X Syndrome

(2010) C. Gross et al.   JOURNAL OF NEUROSCIENCE

Dysregulation of mTOR Signaling in Fragile X Syndrome

(2010) A. Sharma et al.   JOURNAL OF NEUROSCIENCE

Defective cAMP Generation Underlies the Sensitivity of CNS Neurons to Neurofibromatosis-1 Heterozygosity

(2010) J. A. Brown et al.   JOURNAL OF NEUROSCIENCE

Regulation of the mTOR Complex 1 Pathway by Nutrients, Growth Factors, and Stress

(2010) Shomit Sengupta et al.   MOLECULAR CELL

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders

(2010) Dan Ehninger et al.   TRENDS IN MOLECULAR MEDICINE

Fragile X and autism: Intertwined at the molecular level leading to targeted treatments

(2010) Randi Hagerman et al.   Molecular Autism

A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder

(2009) Bert van der Zwaag et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders

(2009) Jeffrey J. Hutsler et al.   BRAIN RESEARCH

Abnormal Behavior in a Chromosome- Engineered Mouse Model for Human 15q11-13 Duplication Seen in Autism

(2009) Jin Nakatani et al.   CELL

The natural history of epilepsy in tuberous sclerosis complex

(2009) Catherine J. Chu-Shore et al.   EPILEPSIA

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

(2009) Marianne Doornbos et al.   European Journal of Medical Genetics

Abnormal myelination in Angelman syndrome

(2009) Manuel Castro-Gago et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

MeCP2 functions largely cell-autonomously, but also non-cell-autonomously, in neuronal maturation and dendritic arborization of cortical pyramidal neurons

(2009) Noriyuki Kishi et al.   EXPERIMENTAL NEUROLOGY

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

(2009) Elizabeth A Varga et al.   GENETICS IN MEDICINE

Preclinicalin vivoevaluation of rapamycin in human malignant peripheral nerve sheath explant xenograft

(2009) Priya Bhola et al.   INTERNATIONAL JOURNAL OF CANCER

Deregulation of EIF4E: a novel mechanism for autism

(2009) M Neves-Pereira et al.   JOURNAL OF MEDICAL GENETICS

Modulation of dendritic spine development and plasticity by BDNF and vesicular trafficking: fundamental roles in neurodevelopmental disorders associated with mental retardation and autism

(2009) Christopher A. Chapleau et al.   Journal of Neurodevelopmental Disorders

Rett Syndrome Astrocytes Are Abnormal and Spread MeCP2 Deficiency through Gap Junctions

(2009) I. Maezawa et al.   JOURNAL OF NEUROSCIENCE

KIF5B Motor Adaptor Syntabulin Maintains Synaptic Transmission in Sympathetic Neurons

(2009) H. Ma et al.   JOURNAL OF NEUROSCIENCE

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

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

(2009) Joseph T. Glessner et al.   NATURE

Non–cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology

(2009) Nurit Ballas et al.   NATURE NEUROSCIENCE

Ube3a is required for experience-dependent maturation of the neocortex

(2009) Koji Yashiro et al.   NATURE NEUROSCIENCE

The Role of Epilepsy and Epileptiform EEGs in Autism Spectrum Disorders

(2009) Sarah J Spence et al.   PEDIATRIC RESEARCH

Epidemiology of Pervasive Developmental Disorders

(2009) Eric Fombonne   PEDIATRIC RESEARCH

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

Origins of Epilepsy in Fragile X Syndrome

(2009) Paul J. Hagerman et al.   Epilepsy Currents

Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers

(2008) Delia M. Talos et al.   ANNALS OF NEUROLOGY

Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex

(2008) Ling-Hui Zeng et al.   ANNALS OF NEUROLOGY

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   CELL

The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a New 4E-BP

(2008) Ilaria Napoli et al.   CELL

TORC1 Is Essential for NF1-Associated Malignancies

(2008) Cory M. Johannessen et al.   CURRENT BIOLOGY

Abnormal myelination in Angelman syndrome

(2008) Inga Harting et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Tuberous sclerosis complex proteins control axon formation

(2008) Y.-J. Choi et al.   GENES & DEVELOPMENT

S6K1 Phosphorylates and Regulates Fragile X Mental Retardation Protein (FMRP) with the Neuronal Protein Synthesis-dependent Mammalian Target of Rapamycin (mTOR) Signaling Cascade

(2008) Usha Narayanan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Response of a Neuronal Model of Tuberous Sclerosis to Mammalian Target of Rapamycin (mTOR) Inhibitors: Effects on mTORC1 and Akt Signaling Lead to Improved Survival and Function

(2008) L. Meikle et al.   JOURNAL OF NEUROSCIENCE

Synaptic ionotropic glutamate receptors and plasticity are developmentally altered in the CA1 field ofFmr1knockout mice

(2008) Yair Pilpel et al.   JOURNAL OF PHYSIOLOGY-LONDON

Tuberous sclerosis

(2008) Paolo Curatolo et al.   LANCET

Copy-number variations associated with neuropsychiatric conditions

(2008) Edwin H. Cook Jr et al.   NATURE

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

(2008) Dan Ehninger et al.   NATURE MEDICINE

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

Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities

(2007) M.M. Fraser et al.   NEUROSCIENCE