Related references
Note: Only part of the references are listed.Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening
Maria Marchese et al.
BMC MEDICAL GENETICS (2014)
Pten haploinsufficient mice show broad brain overgrowth but selective impairments in autism-relevant behavioral tests
Amy E. Clipperton-Allen et al.
HUMAN MOLECULAR GENETICS (2014)
Common EIF4E variants modulate risk for autism spectrum disorders in the high-functioning range
Regina Waltes et al.
JOURNAL OF NEURAL TRANSMISSION (2014)
Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome
Dilek Colak et al.
SCIENCE (2014)
Autism-associated gene Dlgap2 mutant mice demonstrate exacerbated aggressive behaviors and orbitofrontal cortex deficits
Li-Feng Jiang-Xie et al.
MOLECULAR AUTISM (2014)
Autism genetics
Antonio M. Persico et al.
BEHAVIOURAL BRAIN RESEARCH (2013)
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
Luigi Boccuto et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Activity-dependent neuronal signalling and autism spectrum disorder
Daniel H. Ebert et al.
NATURE (2013)
Genetic and acute CPEB1 depletion ameliorate fragile X pathophysiology
Tsuyoshi Udagawa et al.
NATURE MEDICINE (2013)
The translation of translational control by FMRP: therapeutic targets for FXS
Jennifer C. Darnell et al.
NATURE NEUROSCIENCE (2013)
Functional Consequences of Mutations in Postsynaptic Scaffolding Proteins and Relevance to Psychiatric Disorders
Jonathan T. Ting et al.
ANNUAL REVIEW OF NEUROSCIENCE, VOL 35 (2012)
Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses
James P. Clement et al.
CELL (2012)
Genetic architecture in autism spectrum disorder
Bernie Devlin et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2012)
PTEN signaling in autism spectrum disorders
Jing Zhou et al.
CURRENT OPINION IN NEUROBIOLOGY (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)
Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
Peter T. Tsai et al.
NATURE (2012)
Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome
Jennifer A. Ronesi et al.
NATURE NEUROSCIENCE (2012)
BC1-FMRP interaction is modulated by 2′-O-methylation: RNA-binding activity of the tudor domain and translational regulation at synapses
Caroline Lacoux et al.
NUCLEIC ACIDS RESEARCH (2012)
Approach to the Genetic Evaluation of the Child with Autism
Helga V. Toriello
PEDIATRIC CLINICS OF NORTH AMERICA (2012)
Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities
Huda Y. Zoghbi et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2012)
Common genetic variants, acting additively, are a major source of risk for autism
Lambertus Klei et al.
MOLECULAR AUTISM (2012)
Family-Based Genetic Association Study of DLGAP3 in Tourette Syndrome
Jacquelyn Crane et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2011)
Sociability and motor functions in Shank1 mutant mice
Jill L. Silverman et al.
BRAIN RESEARCH (2011)
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Jennifer C. Darnell et al.
CELL (2011)
Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population
Leigh Boardman et al.
COMPREHENSIVE PSYCHIATRY (2011)
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3
Xiaoming Wang et al.
HUMAN MOLECULAR GENETICS (2011)
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
Joao Peca et al.
NATURE (2011)
Communication Impairments in Mice Lacking Shank1: Reduced Levels of Ultrasonic Vocalizations and Scent Marking Behavior
Markus Woehr et al.
PLOS ONE (2011)
Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study
Sally Ozonoff et al.
PEDIATRICS (2011)
Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development
Chikako Waga et al.
PSYCHIATRIC GENETICS (2011)
Genetics of autism spectrum disorders
Daniel H. Geschwind
TRENDS IN COGNITIVE SCIENCES (2011)
22q13.3 Deletion Syndrome: Clinical and Molecular Analysis Using Array CGH
S. U. Dhar et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Excess Phosphoinositide 3-Kinase Subunit Synthesis and Activity as a Novel Therapeutic Target in Fragile X Syndrome
Christina Gross et al.
JOURNAL OF NEUROSCIENCE (2010)
Dysregulation of mTOR Signaling in Fragile X Syndrome
Ali Sharma et al.
JOURNAL OF NEUROSCIENCE (2010)
Functional impact of global rare copy number variation in autism spectrum disorders
Dalila Pinto et al.
NATURE (2010)
Tsc2-Rheb signaling regulates EphA-mediated axon guidance
Duyu Nie et al.
NATURE NEUROSCIENCE (2010)
Fragile X: Leading the Way for Targeted Treatments in Autism
Lulu W. Wang et al.
NEUROTHERAPEUTICS (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)
Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication
Ozlem Bozdagi et al.
MOLECULAR AUTISM (2010)
Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA
Bradford Coffee et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Novel De Novo SHANK3 Mutation in Autistic Patients
Julie Gauthier et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2009)
Sapap3 and Pathological Grooming in Humans: Results From the OCD Collaborative Genetics Study
O. J. Bienvenu et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2009)
Autism and Nonsyndromic Mental Retardation Associated with a De Novo Mutation in the NLGN4X Gene Promoter Causing an Increased Expression Level
Hussein Daoud et al.
BIOLOGICAL PSYCHIATRY (2009)
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly
A. Orrico et al.
CLINICAL GENETICS (2009)
A synaptic trek to autism
Thomas Bourgeron
CURRENT OPINION IN NEUROBIOLOGY (2009)
Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit
K. Radyushkin et al.
GENES BRAIN AND BEHAVIOR (2009)
Fragile X Mental Retardation Protein Regulates the Levels of Scaffold Proteins and Glutamate Receptors in Postsynaptic Densities
Janin Schuett et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders
Pat Levitt et al.
JOURNAL OF CLINICAL INVESTIGATION (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)
Multiple rare SAPAP3 missense variants in trichotillomania and OCD
S. Zuchner et al.
MOLECULAR PSYCHIATRY (2009)
Mutations in SYNGAP1 in Autosomal nonsyndromic Mental Retardation
Fadi F. Hamdan et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Haploinsufficiency for Pten and Serotonin transporter cooperatively influences brain size and social behavior
Damon T. Page et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist
C. Lintas et al.
JOURNAL OF MEDICAL GENETICS (2009)
From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis
D. Ehninger et al.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH (2009)
Structural variation of chromosomes in autism spectrum disorder
Christian R. Marshall et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Disruption of neurexin 1 associated with autism spectrum disorder
Hyung-Goo Kim et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Abnormal striatal GABA transmission in the mouse model for the fragile X syndrome
Diego Centonze et al.
BIOLOGICAL PSYCHIATRY (2008)
The Autistic Neuron: Troubled Translation?
Raymond J. Kelleher et al.
CELL (2008)
The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP
Ilaria Napoli et al.
CELL (2008)
Familial deletion within NLGN4 associated with autism and Tourette syndrome
Amy Lawson-Yuen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1
Albert Y. Hung et al.
JOURNAL OF NEUROSCIENCE (2008)
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
Lynsey Meikle et al.
JOURNAL OF NEUROSCIENCE (2008)
Neuroligins and neurexins link synaptic function to cognitive disease
Thomas C. Sudhof
NATURE (2008)
Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis
Dan Ehninger et al.
NATURE MEDICINE (2008)
Neurexin 1α structural variants associated with autism
Jin Yan et al.
NEUROSCIENCE LETTERS (2008)
Deletion 22q13.3 syndrome
Mary C. Phelan
ORPHANET JOURNAL OF RARE DISEASES (2008)
Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism
Stephane Jamain et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α
F. R. Zahir et al.
JOURNAL OF MEDICAL GENETICS (2008)
Contribution of SHANK3 mutations to autism spectrum disorder
Rainald Moessner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Cognitive deficits in Tsc1+/-mice in the absence of cerebral lesions and seizures
Susanna M. I. Goorden et al.
ANNALS OF NEUROLOGY (2007)
Neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice
Katsuhiko Tabuchi et al.
SCIENCE (2007)
Therapeutic suppression of translation initiation factor eIF4E expression reduces tumor growth without toxicity
Jeremy R. Graff et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Cortico-striatal synaptic defects and OCD-like behaviours in Sapap3-mutant mice
Jeffrey M. Welch et al.
NATURE (2007)
Activity-dependent validation of excitatory versus inhibitory synapses by neuroligin-1 versus neuroligin-2
Alexander A. Chubykin et al.
NEURON (2007)
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
Joseph D. Buxbaum et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2007)
A mouse model of tuberous sclerosis: Neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival
Lynsey Meikle et al.
JOURNAL OF NEUROSCIENCE (2007)
A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability
Francesca Zalfa et al.
NATURE NEUROSCIENCE (2007)
Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect
M. Macarov et al.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH (2007)
Silencing of neuroligin function by postsynaptic neurexins
Hiroki Taniguchi et al.
JOURNAL OF NEUROSCIENCE (2007)
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Peter Szatmari et al.
NATURE GENETICS (2007)
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
Christelle M. Durand et al.
NATURE GENETICS (2007)
High frequency of neurexin 1β signal peptide structural variants in patients with autism
Jinong Feng et al.
NEUROSCIENCE LETTERS (2006)
Neuroligins determine synapse maturation and function
Frederique Varoqueaux et al.
NEURON (2006)
Searching for ways out of the autism maze: genetic, epigenetic and environmental clues
Antonio M. Persico et al.
TRENDS IN NEUROSCIENCES (2006)
Pten regulates neuronal arborization and social interaction in mice
Chang-Hyuk Kwon et al.
NEURON (2006)
Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism
Z Talebizadeh et al.
JOURNAL OF MEDICAL GENETICS (2006)
SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons
G Rumbaugh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers
S Chocholska et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Regulation of eukaryotic initiation factor 4E by converging signaling pathways during metabotropic glutamate receptor-dependent long-term depression
JL Banko et al.
JOURNAL OF NEUROSCIENCE (2006)
Epileptogenesis and reduced inward rectifier potassium current in tuberous sclerosis complex-1-deficient astrocytes
LA Jansen et al.
EPILEPSIA (2005)
Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways
DJ Kwiatkowski et al.
HUMAN MOLECULAR GENETICS (2005)
A reduced number of metabotropic glutamate subtype 5 receptors are associated with constitutive homer proteins in a mouse model of fragile X syndrome
R Giuffrida et al.
JOURNAL OF NEUROSCIENCE (2005)
Dendritic spine abnormalities in the occipital cortex of C57BL/6 Fmr1 knockout mice
BC McKinney et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2005)
Ontogeny of postsynaptic density proteins at glutamatergic synapses
RS Petralia et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2005)
Differential roles of NR2A- and NR2B-containing NMDA receptors in and AMPA receptor Ras-ERK signaling trafficking
MJ Kim et al.
NEURON (2005)
Postadolescent changes in regional cerebral protein synthesis:: An in vivo study in the Fmr1 null mouse
M Qin et al.
JOURNAL OF NEUROSCIENCE (2005)
Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients
J Yan et al.
MOLECULAR 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)
Regulation of cap-dependent translation by eIF4E inhibitory proteins
JD Richter et al.
NATURE (2005)
Dysregulation of the TSC-mTOR pathway in human disease
K Inoki et al.
NATURE GENETICS (2005)
Differential mRNA expression and protein localization of the SAP90/PSD-95-associated proteins (SAPAPs) in the nervous system of the mouse
JM Welch et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2004)
The fragile X mental retardation protein has nucleic acid chaperone properties
C Gabus et al.
NUCLEIC ACIDS RESEARCH (2004)
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
F Laumonnier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Associated medical disorders and disabilities in children with autistic disorder - A population-based study
M Kielinen et al.
AUTISM (2004)
Neuroligin 2 is exclusively localized to inhibitory synapses
F Varoqueaux et al.
EUROPEAN JOURNAL OF CELL BIOLOGY (2004)
SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor dependent synaptic AMPA receptor potentiation
G Krapivinsky et al.
NEURON (2004)
Fragile X mental retardation protein is associated with translating polyribosomes in neuronal cells
G Stefani et al.
JOURNAL OF NEUROSCIENCE (2004)
Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins
ER Graf et al.
CELL (2004)
Biochemical mechanisms for translational regulation in synaptic plasticity
E Klann et al.
NATURE REVIEWS NEUROSCIENCE (2004)
Phosphorylation influences the translation state of FMRP-associated polyribosomes
S Ceman et al.
HUMAN MOLECULAR GENETICS (2003)
A genomewide screen of 345 families for autism-susceptibility loci
AL Yonan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
HL Wilson et al.
JOURNAL OF MEDICAL GENETICS (2003)
Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling
K Inoki et al.
GENES & DEVELOPMENT (2003)
Epidemiological surveys of autism and other pervasive developmental disorders: An update
E Fombonne
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2003)
α-neurexins couple Ca2+ channels to synaptic vesicle exocytosis
M Missler et al.
NATURE (2003)
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
S Jamain et al.
NATURE GENETICS (2003)
Rheb fills a GAP between TSC and TOR
BD Manning et al.
TRENDS IN BIOCHEMICAL SCIENCES (2003)
Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures
EJ Uhlmann et al.
ANNALS OF NEUROLOGY (2002)
Structure and evolution of neurexin genes:: Insight into the mechanism of alternative splicing
K Tabuchi et al.
GENOMICS (2002)
Altered synaptic plasticity in a mouse model of fragile X mental retardation
KM Huber et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
FISH-mapping of a 100-kb terminal 22q13 deletion
BM Anderlid et al.
HUMAN GENETICS (2002)
Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease
CH Kwon et al.
NATURE GENETICS (2001)
Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease
SA Backman et al.
NATURE GENETICS (2001)
Regulation of dendritic spine morphology and synaptic function by Shank and Homer
C Sala et al.
NEURON (2001)
Evidence that fragile X mental retardation protein is a negative regulator of translation
B Laggerbauer et al.
HUMAN MOLECULAR GENETICS (2001)
Macrocephaly in autism and other pervasive developmental disorders
DJ Fidler et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2000)
Dendritic spine structural anomalies in fragile-X mental retardation syndrome
SA Irwin et al.
CEREBRAL CORTEX (2000)
Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons
P Scheiffele et al.
CELL (2000)