相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Sleep disturbance as a transdiagnostic marker of psychiatric risk in children with neurodevelopmental risk genetic conditions
Samuel J. R. A. Chawner et al.
TRANSLATIONAL PSYCHIATRY (2023)
Stem Cell Models for Context-Specific Modeling in Psychiatric Disorders
Carina Seah et al.
BIOLOGICAL PSYCHIATRY (2023)
Neurexin-2 restricts synapse numbers and restrains the presynaptic release probability by an alternative splicing-dependent mechanism
Pei-Yi Lin et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2023)
Allelic contribution of Nrxn1 alpha to autism-relevant behavioral phenotypes in mice
Bing Xu et al.
PLOS GENETICS (2023)
Excessive self-grooming, gene dysregulation and imbalance between the striosome and matrix compartments in the striatum of Shank3 mutant mice
Allain-Thibeault Ferhat et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2023)
Altered medial prefrontal cortex and dorsal raphe activity predict genotype and correlate with abnormal learning behavior in a mouse model of autism-associated 2p16.3 deletion
Rebecca B. Hughes et al.
AUTISM RESEARCH (2022)
Conventional laboratory housing increases morbidity and mortality in research rodents: results of a meta-analysis
Jessica Cait et al.
BMC BIOLOGY (2022)
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium
Tess Levy et al.
HUMAN MOLECULAR GENETICS (2022)
Autism genes converge on asynchronous development of shared neuron classes
Bruna Paulsen et al.
NATURE (2022)
Engineering brain assembloids to interrogate human neural circuits
Yuki Miura et al.
NATURE PROTOCOLS (2022)
The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions
Jennifer Cooke et al.
FRONTIERS IN NEUROSCIENCE (2022)
Sensory Processing Phenotypes in Phelan-McDermid Syndrome and SYNGAP1-Related Intellectual Disability
Ariel M. Lyons-Warren et al.
BRAIN SCIENCES (2022)
A systematic review of person-centred adjustments to facilitate magnetic resonance imaging for autistic patients without the use of sedation or anaesthesia
Nikolaos Stogiannos et al.
AUTISM (2022)
Neuroligin-3 and neuroligin-4X form nanoscopic clusters and regulate growth cone organization and size
Nicholas J. F. Gatford et al.
HUMAN MOLECULAR GENETICS (2022)
Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome
Paige M. Siper et al.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2022)
iPSC toolbox for understanding and repairing disrupted brain circuits in autism
Simone Chiola et al.
MOLECULAR PSYCHIATRY (2022)
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
Vassily Trubetskoy et al.
NATURE (2022)
How does genetic variation modify ND-CNV phenotypes?
Thomas J. Dinneen et al.
TRENDS IN GENETICS (2022)
Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome
Emily L. Isenstein et al.
FRONTIERS IN NEUROSCIENCE (2022)
Development of iPSC-based clinical trial selection platform for patients with ultrarare diseases
Glen Lester Sequiera et al.
SCIENCE ADVANCES (2022)
From mechanisms to markers: novel noninvasive EEG proxy markers of the neural excitation and inhibition system in humans
Jumana Ahmad et al.
TRANSLATIONAL PSYCHIATRY (2022)
Functional neuronal circuitry and oscillatory dynamics in human brain organoids
Tal Sharf et al.
NATURE COMMUNICATIONS (2022)
Neural circuit pathology driven by Shank3 mutation disrupts social behaviors
Sunwhi Kim et al.
CELL REPORTS (2022)
Adventures and Advances in Time Travel With Induced Pluripotent Stem Cells and Automated Patch Clamp
Kadla R. Rosholm et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2022)
Neuroligin-3 confines AMPA receptors into nanoclusters, thereby controlling synaptic strength at the calyx of Held synapses
Ying Han et al.
SCIENCE ADVANCES (2022)
Shank3 influences mammalian sleep development
Elizabeth Medina et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2022)
Analyses of the autism-associated neuroligin-3 R451C mutation in human neurons reveal a gain-of-function synaptic mechanism
Le Wang et al.
MOLECULAR PSYCHIATRY (2022)
Maturation and circuit integration of transplanted human cortical organoids
Omer Revah et al.
NATURE (2022)
Functional regulatory variants implicate distinct transcriptional networks in dementia
Yonatan A. Cooper et al.
SCIENCE (2022)
Modeling human telencephalic development and autism-associated SHANK3 deficiency using organoids generated from single neural rosettes
Yueqi Wang et al.
NATURE COMMUNICATIONS (2022)
Distinct neurexin-cerebellin complexes control AMPA- and NMDA-receptor responses in a circuit-dependent manner
Jinye Dai et al.
ELIFE (2022)
From bench to bedside: The mGluR5 system in people with and without Autism Spectrum Disorder and animal model systems
Cornelia Carey et al.
TRANSLATIONAL PSYCHIATRY (2022)
Neurexin1α knockout rats display oscillatory abnormalities and sensory processing deficits back-translating key endophenotypes of psychiatric disorders
Philipp Janz et al.
TRANSLATIONAL PSYCHIATRY (2022)
How can we obtain truly translational mouse models to improve clinical outcomes in schizophrenia?
Steven J. Clapcote
DISEASE MODELS & MECHANISMS (2022)
Trajectories of Symptom Severity in Children with Autism: Variability and Turning Points through the Transition to School
Stelios Georgiades et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2022)
Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals
Dwaipayan Adhya et al.
BIOLOGICAL PSYCHIATRY (2021)
Novel Therapeutic Approach for Excitatory/Inhibitory Imbalance in Neurodevelopmental and Neurodegenerative Diseases
Swagata Ghatak et al.
ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY, VOL 61, 2021 (2021)
Recent advances in three-dimensional microelectrode array technologies for in vitro and in vivo cardiac and neuronal interfaces
Jong Seob Choi et al.
BIOSENSORS & BIOELECTRONICS (2021)
Recent developments in Phelan-McDermid syndrome research: an update on cognitive development, communication and psychiatric disorders
Annick Vogels et al.
CURRENT OPINION IN PSYCHIATRY (2021)
Major motor and gait deficits with sexual dimorphism in a Shank3 mutant mouse model
Emmanuel Matas et al.
MOLECULAR AUTISM (2021)
Application of Airy beam light sheet microscopy to examine early neurodevelopmental structures in 3D hiPSC-derived human cortical spheroids
Dwaipayan Adhya et al.
MOLECULAR AUTISM (2021)
Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study
Sylvia B. Guillory et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2021)
Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications
Jan Philipp Delling et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2021)
Defective AMPA-mediated synaptic transmission and morphology in human neurons with hemizygous SHANK3 deletion engrafted in mouse prefrontal cortex
Simone Chiola et al.
MOLECULAR PSYCHIATRY (2021)
Neurexin1α differentially regulates synaptic efficacy within striatal circuits
M. Felicia Davatolhagh et al.
CELL REPORTS (2021)
Increased ribosomal protein levels and protein synthesis in the striatal synaptosome of Shank3-overexpressing transgenic mice
Chunmei Jin et al.
MOLECULAR BRAIN (2021)
Variable Emergence of Autism Spectrum Disorder Symptoms From Childhood to Early Adulthood
Lucy Riglin et al.
AMERICAN JOURNAL OF PSYCHIATRY (2021)
Emerging evidence implicating a role for neurexins in neurodegenerative and neuropsychiatric disorders
Katelyn Cuttler et al.
OPEN BIOLOGY (2021)
Touchscreen cognitive testing: Cross-species translation and co-clinical trials in neurodegenerative and neuropsychiatric disease
Daniel Palmer et al.
NEUROBIOLOGY OF LEARNING AND MEMORY (2021)
Neuropixels 2.0: A miniaturized high-density probe for stable, long-term brain recordings
Nicholas A. Steinmetz et al.
SCIENCE (2021)
Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome
Michael. G. Mariscal et al.
MOLECULAR AUTISM (2021)
Reduced brain volume and white matter alterations in Shank3-deficient rats
Carla E. M. Golden et al.
AUTISM RESEARCH (2021)
Social Behavior in Prepubertal Neurexin 1α Deficient Rats: A Model of Neurodevelopmental Disorders
Katherine E. Kight et al.
BEHAVIORAL NEUROSCIENCE (2021)
NRXN1α+/- is associated with increased excitability in ASD iPSC-derived neurons
Sahar Avazzadeh et al.
BMC NEUROSCIENCE (2021)
GluD1 is a signal transduction device disguised as an ionotropic receptor
Jinye Dai et al.
NATURE (2021)
Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons
ChangHui Pak et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)
Sensory Reactivity Phenotype in Phelan-McDermid Syndrome Is Distinct from Idiopathic ASD
Teresa Tavassoli et al.
GENES (2021)
Sleep Abnormalities in the Synaptopathies-SYNGAP1-Related Intellectual Disability and Phelan-McDermid Syndrome
Constance Smith-Hicks et al.
BRAIN SCIENCES (2021)
Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review
Paola Castronovo et al.
CLINICAL GENETICS (2020)
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
F. Kyle Satterstrom et al.
CELL (2020)
Assessing the developmental trajectory of mouse models of neurodevelopmental disorders: Social and communication deficits in mice with Neurexin 1α deletion
Emily C. Armstrong et al.
GENES BRAIN AND BEHAVIOR (2020)
The Causal Role of Left and Right Superior Temporal Gyri in Speech Perception in Noise: A Transcranial Magnetic Stimulation Study
Dan Kennedy-Higgins et al.
JOURNAL OF COGNITIVE NEUROSCIENCE (2020)
The clinical relevance of intragenic NRXN1 deletions
Nele Cosemans et al.
JOURNAL OF MEDICAL GENETICS (2020)
Dysfunction of cortical GABAergic neurons leads to sensory hyper-reactivity in a Shank3 mouse model of ASD
Qian Chen et al.
NATURE NEUROSCIENCE (2020)
Severe white matter damage in SHANK3 deficiency: a human and translational study
Sarah Jesse et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2020)
A Multiplex Human Pluripotent Stem Cell Platform Defines Molecular and Functional Subclasses of Autism-Related Genes
Gustav Y. Cederquist et al.
CELL STEM CELL (2020)
Deletion of NRXN1α impairs long-range and local connectivity in amygdala fear circuit
Douglas Asede et al.
TRANSLATIONAL PSYCHIATRY (2020)
Convergent brain microstructure across multiple genetic models of schizophrenia and autism spectrum disorder: A feasibility study
Brian R. Barnett et al.
MAGNETIC RESONANCE IMAGING (2020)
Measurement of excitation-inhibition ratio in autism spectrum disorder using critical brain dynamics
Hilgo Bruining et al.
SCIENTIFIC REPORTS (2020)
Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia
Kanako Ishizuka et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2020)
Pharmacological intervention to restore connectivity deficits of neuronal networks derived from ASD patient iPSC with a TSC2 mutation
Mouhamed Alsaqati et al.
MOLECULAR AUTISM (2020)
Massively parallel techniques for cataloguing the regulome of the human brain
Kayla G. Townsley et al.
NATURE NEUROSCIENCE (2020)
In vivo Perturb-Seq reveals neuronal and glial abnormalities associated with autism risk genes
Xin Jin et al.
SCIENCE (2020)
Disruption of Nrxn1α within excitatory forebrain circuits drives value-based dysfunction
Opeyemi O. Alabi et al.
ELIFE (2020)
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families
Maryam Al Shehhi et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2019)
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Lucilla Pizzo et al.
GENETICS IN MEDICINE (2019)
Isoform-specific cleavage of neuroligin-3 reduces synapse strength
Michael A. Bemben et al.
MOLECULAR PSYCHIATRY (2019)
Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome
Siddharth Srivastava et al.
PEDIATRIC NEUROLOGY (2019)
Differential expression of neurexin genes in the mouse brain
Motokazu Uchigashima et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2019)
Shank3 Transgenic and Prenatal Zinc-Deficient Autism Mouse Models Show Convergent and Individual Alterations of Brain Structures in MRI
Michael Schoen et al.
FRONTIERS IN NEURAL CIRCUITS (2019)
Deletion of Autism Risk Gene Shank3 Disrupts Prefrontal Connectivity
Marco Pagani et al.
JOURNAL OF NEUROSCIENCE (2019)
Excitation-inhibition balance as a framework for investigating mechanisms in neuropsychiatric disorders
Vikaas S. Sohal et al.
MOLECULAR PSYCHIATRY (2019)
Alternative Splicing of Presynaptic Neurexins Differentially Controls Postsynaptic NMDA and AMPA Receptor Responses
Jinye Dai et al.
NEURON (2019)
Shank3 modulates sleep and expression of circadian transcription factors
Ashley M. Ingiosi et al.
ELIFE (2019)
CNTN5-/+ or EHMT2-/+ human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks
Eric Deneault et al.
ELIFE (2019)
Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality
Matti Lam et al.
EXPERIMENTAL CELL RESEARCH (2019)
Synaptic neurexin-1 assembles into dynamically regulated active zone nanoclusters
Justin H. Trotter et al.
JOURNAL OF CELL BIOLOGY (2019)
Anterior cingulate cortex dysfunction underlies social deficits in Shank3 mutant mice
Baolin Guo et al.
NATURE NEUROSCIENCE (2019)
Excitatory-inhibitory imbalance in Alzheimer's disease and therapeutic significance
Eva Vico Varela et al.
NEUROBIOLOGY OF DISEASE (2019)
Neuroligin-4 Regulates Excitatory Synaptic Transmission in Human Neurons
Samuele G. Marro et al.
NEURON (2019)
Laboratory mice born to wild mice have natural microbiota and model human immune responses
Stephan P. Rosshart et al.
SCIENCE (2019)
Single-Cell RNA-Seq Reveals Developmental Origins and Ontogenetic Stability of Neurexin Alternative Splicing Profiles
David Lukacsovich et al.
CELL REPORTS (2019)
Shank3 Mice Carrying the Human Q321R Mutation Display Enhanced Self-Grooming, Abnormal Electroencephalogram Patterns, and Suppressed Neuronal Excitability and Seizure Susceptibility
Ye-Eun Yoo et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2019)
Targeting Peripheral Somatosensory Neurons to Improve Tactile-Related Phenotypes in ASD Models
Lauren L. Orefice et al.
CELL (2019)
Synergistic effects of common schizophrenia risk variants
Nadine Schrode et al.
NATURE GENETICS (2019)
NRXN1 is associated with enlargement of the temporal horns of the lateral ventricles in psychosis
Ney Alliey-Rodriguez et al.
TRANSLATIONAL PSYCHIATRY (2019)
Neuronal impact of patient-specific aberrant NRXN1α splicing
Erin Flaherty et al.
NATURE GENETICS (2019)
Hypothesis-driven investigations of diverse pharmacological targets in two mouse models of autism
Maya A. Rhine et al.
AUTISM RESEARCH (2019)
Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons
Simon T. Schafer et al.
NATURE NEUROSCIENCE (2019)
Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature
Alexander Kolevzon et al.
MOLECULAR AUTISM (2019)
Increased Ca2+ signaling in NRXN1a+/- neurons derived from ASD induced pluripotent stem cells
Sahar Avazzadeh et al.
MOLECULAR AUTISM (2019)
EEG data collection in children with ASD: The role of state in data quality and spectral power
Charlotte DiStefano et al.
RESEARCH IN AUTISM SPECTRUM DISORDERS (2019)
Genotype-phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study
Samuel J. R. A. Chawner et al.
LANCET PSYCHIATRY (2019)
Comprehensive analysis of two Shank3 and the Cacna1c mouse models of autism spectrum disorder
P. A. Kabitzke et al.
GENES BRAIN AND BEHAVIOR (2018)
Stem cell-derived neurons from autistic individuals with SHANK3 mutation show morphogenetic abnormalities during early development
A. Kathuria et al.
MOLECULAR PSYCHIATRY (2018)
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
Silvia De Rubeis et al.
MOLECULAR AUTISM (2018)
Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviors
Alexandra L. Bey et al.
TRANSLATIONAL PSYCHIATRY (2018)
Glutamate and GABA in autism spectrum disorder-a translational magnetic resonance spectroscopy study in man and rodent models
Jamie Horder et al.
TRANSLATIONAL PSYCHIATRY (2018)
Characterization of speech and language phenotype in children with NRXN1 deletions
Amanda Brignell et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2018)
The UK Biobank resource with deep phenotyping and genomic data
Clare Bycroft et al.
NATURE (2018)
Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons
Eric Deneault et al.
STEM CELL REPORTS (2018)
Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex
Lauren F. Harkin et al.
CEREBRAL CORTEX (2017)
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Chelsea Lowther et al.
GENETICS IN MEDICINE (2017)
Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice
C. Vicidomini et al.
MOLECULAR PSYCHIATRY (2017)
Sleep Disturbances in Individuals With Phelan-McDermid Syndrome: Correlation With Caregivers' Sleep Quality and Daytime Functioning
Della Bro et al.
SLEEP (2017)
Sleep Disturbances in Individuals With Phelan-McDermid Syndrome: Correlation With Caregivers' Sleep Quality and Daytime Functioning
Della Bro et al.
SLEEP (2017)
Striatopallidal dysfunction underlies repetitive behavior in Shank3-deficient model of autism
Wenting Wang et al.
JOURNAL OF CLINICAL INVESTIGATION (2017)
SHANK proteins: roles at the synapse and in autism spectrum disorder
Patricia Monteiro et al.
NATURE REVIEWS NEUROSCIENCE (2017)
TOUCHSCREEN LEARNING DEFICITS AND NORMAL SOCIAL APPROACH BEHAVIOR IN THE SHANK3B MODEL OF PHELAN McDERMID SYNDROME AND AUTISM
Nycole A. Copping et al.
NEUROSCIENCE (2017)
Carbonic anhydrase-related protein CA10 is an evolutionarily conserved pan-neurexin ligand
Fredrik H. Sterky et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
Proteomic Analysis of Post-synaptic Density Fractions from Shank3 Mutant Mice Reveals Brain Region Specific Changes Relevant to Autism Spectrum Disorder
Dominik Reim et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2017)
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet et al.
NPJ GENOMIC MEDICINE (2017)
Synaptic Neurexin Complexes: A Molecular Code for the Logic of Neural Circuits
Thomas C. Sudhof
CELL (2017)
Heritability of autism spectrum disorders: a meta-analysis of twin studies
Beata Tick et al.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY (2016)
Neurobiology of rodent self-grooming and its value for translational neuroscience
Allan V. Kalueff et al.
NATURE REVIEWS NEUROSCIENCE (2016)
Stem Cell Models of Human Brain Development
Iva Kelava et al.
CELL STEM CELL (2016)
Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome
A. Ting Wang et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2016)
Methods for acquiring MRI data in children with autism spectrum disorder and intellectual impairment without the use of sedation
Christine Wu Nordahl et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2016)
Adult restoration of Shank3 expression rescues selective autistic-like phenotypes
Yuan Mei et al.
NATURE (2016)
Early hyperactivity and precocious maturation of corticostriatal circuits in Shank3B-/- mice
Rui T. Peixoto et al.
NATURE NEUROSCIENCE (2016)
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
Fei Yi et al.
SCIENCE (2016)
Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism
Xiaoming Wang et al.
NATURE COMMUNICATIONS (2016)
Maturation of auditory neural processes in autism spectrum disorder - A longitudinal MEG study
Russell G. Port et al.
NEUROIMAGE-CLINICAL (2016)
Heterozygous Deletion of α-Neurexin I or α-Neurexin II Results in Behaviors Relevant to Autism and Schizophrenia
James Dachtler et al.
BEHAVIORAL NEUROSCIENCE (2015)
Phenotypic Characterization of Nonsocial Behavioral Impairment in Neurexin 1α Knockout Rats
Frederic Esclassan et al.
BEHAVIORAL NEUROSCIENCE (2015)
β-Neurexins Control Neural Circuits by Regulating Synaptic Endocannabinoid Signaling
Garret R. Anderson et al.
CELL (2015)
Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1
ChangHui Pak et al.
CELL STEM CELL (2015)
Common Mechanisms of Excitatory and Inhibitory Imbalance in Schizophrenia and Autism Spectrum Disorders
R. Gao et al.
CURRENT MOLECULAR MEDICINE (2015)
CNVs in neuropsychiatric disorders
George Kirov
HUMAN MOLECULAR GENETICS (2015)
Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment
Hala Harony-Nicolas et al.
JOURNAL OF CHILD NEUROLOGY (2015)
Single-Cell mRNA Profiling Reveals Cell-Type-Specific Expression of Neurexin Isoforms
Marc V. Fuccillo et al.
NEURON (2015)
Shank3-mutant mice lacking exon 9 show altered excitation/inhibition balance, enhanced rearing, and spatial memory deficit
Jiseok Lee et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2015)
Bridging the translational divide: identical cognitive touchscreen testing in mice and humans carrying mutations in a disease-relevant homologous gene
J. Nithianantharajah et al.
SCIENTIFIC REPORTS (2015)
Cadherin-13, a risk gene for ADHD and comorbid disorders, impacts GABAergic function in hippocampus and cognition
O. Rivero et al.
TRANSLATIONAL PSYCHIATRY (2015)
Characterization of juvenile play in rats: importance of sex of self and sex of partner
Kathryn J. Argue et al.
BIOLOGY OF SEX DIFFERENCES (2015)
Cognitive Abilities on Transitive Inference Using a Novel Touchscreen Technology for Mice
J. L. Silverman et al.
CEREBRAL CORTEX (2015)
Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity
J. Ellegood et al.
MOLECULAR PSYCHIATRY (2015)
Guidelines and Best Practices for Electrophysiological Data Collection, Analysis and Reporting in Autism
Sara Jane Webb et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2015)
The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay
George Kirov et al.
BIOLOGICAL PSYCHIATRY (2014)
Analysis of copy number variations at 15 schizophrenia-associated loci
Elliott Rees et al.
BRITISH JOURNAL OF PSYCHIATRY (2014)
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis et al.
NATURE (2014)
Most genetic risk for autism resides with common variation
Trent Gaugler et al.
NATURE GENETICS (2014)
GABA estimation in the brains of children on the autism spectrum: Measurement precision and regional cortical variation
W. Gaetz et al.
NEUROIMAGE (2014)
Cartography of neurexin alternative splicing mapped by single-molecule long-read mRNA sequencing
Barbara Treutlein et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
Claire S. Leblond et al.
PLOS GENETICS (2014)
Genetic Background Drives Transcriptional Variation in Human Induced Pluripotent Stem Cells
Foad Rouhani et al.
PLOS GENETICS (2014)
Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice
Xiaoming Wang et al.
MOLECULAR AUTISM (2014)
Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring
Alexander Kolevzon et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2014)
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion
Kimberly A. Aldinger et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Investigation of NRXN1 deletions: Clinical and molecular characterization
Mindy Preston Dabell et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
Frederique Bena et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2013)
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy
Rikke S. Moller et al.
EPILEPSIA (2013)
Loss of Predominant Shank3 Isoforms Results in Hippocampus-Dependent Impairments in Behavior and Synaptic Transmission
Mehreen Kouser et al.
JOURNAL OF NEUROSCIENCE (2013)
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients
Aleksandr Shcheglovitov et al.
NATURE (2013)
Altered Social Behaviours in Neurexin 1α Knockout Mice Resemble Core Symptoms in Neurodevelopmental Disorders
Hannah Mary Grayton et al.
PLOS ONE (2013)
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency
Latha Soorya et al.
MOLECULAR AUTISM (2013)
The Resident-intruder Paradigm: A Standardized Test for Aggression, Violence and Social Stress
Jaap M. Koolhaas et al.
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS (2013)
Homodimerization and isoform-specific heterodimerization of neuroligins
Alexandros Poulopoulos et al.
BIOCHEMICAL JOURNAL (2012)
Genetic architecture in autism spectrum disorder
Bernie Devlin et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2012)
Sex-Dependent Novelty Response in Neurexin-1α Mutant Mice
Marijke C. Laarakker et al.
PLOS ONE (2012)
Genetic background affects induced pluripotent stem cell generation
Lauren V. Schnabel et al.
STEM CELL RESEARCH & THERAPY (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)
Compound Heterozygous Deletion of NRXN1 Causing Severe Developmental Delay With Early Onset Epilepsy in Two Sisters
Victoria Harrison et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Brain growth across the life span in autism: Age-specific changes in anatomical pathology
Eric Courchesne et al.
BRAIN RESEARCH (2011)
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3
Xiaoming Wang et al.
HUMAN MOLECULAR GENETICS (2011)
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)
Sara M. Sarasua et al.
JOURNAL OF MEDICAL GENETICS (2011)
Neocortical excitation/inhibition balance in information processing and social dysfunction
Ofer Yizhar et al.
NATURE (2011)
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
Joao Peca et al.
NATURE (2011)
Sleep and Autism Spectrum Disorders
Ann M. Reynolds et al.
PEDIATRIC CLINICS OF NORTH AMERICA (2011)
Neuroligin-4 is localized to glycinergic postsynapses and regulates inhibition in the retina
Mrinalini Hoon et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)
K. Phelan et al.
MOLECULAR SYNDROMOLOGY (2011)
Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders
Michael S. L. Ching et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2010)
Synaptopathy: dysfunction of synaptic function?
Nils Brose et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2010)
Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders
Jeffrey J. Hutsler et al.
BRAIN RESEARCH (2010)
Epigenetic memory in induced pluripotent stem cells
K. Kim et al.
NATURE (2010)
CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila
Christiane Zweier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
A synaptic trek to autism
Thomas Bourgeron
CURRENT OPINION IN NEUROBIOLOGY (2009)
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
Mark R. Etherton et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Neuroligins and neurexins link synaptic function to cognitive disease
Thomas C. Sudhof
NATURE (2008)
Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood
Anne Philippe et al.
PEDIATRICS (2008)
Reviewing the process of preparing children for MRI
Leanne M. Hallowell et al.
PEDIATRIC RADIOLOGY (2008)
Excess of high frequency electroencephalogram oscillations in boys with autism
Elena V. Orekhova et al.
BIOLOGICAL PSYCHIATRY (2007)
Neuroligin-3 is a neuronal adhesion protein at GABAergic and glutamatergic synapses
Elaine C. Budreck et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2007)
Activity-dependent validation of excitatory versus inhibitory synapses by neuroligin-1 versus neuroligin-2
Alexander A. Chubykin et al.
NEURON (2007)
Interpretation of knockout experiments: the congenic footprint
L. C. Schalkwyk et al.
GENES BRAIN AND BEHAVIOR (2007)
Autism spectrum disorders: developmental disconnection syndromes
Daniel H. Geschwind et al.
CURRENT OPINION IN NEUROBIOLOGY (2007)
Neurexin-neuroligin signaling in synapse development
Ann Marie Craig et al.
CURRENT OPINION IN NEUROBIOLOGY (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)
Neuroligins determine synapse maturation and function
Frederique Varoqueaux et al.
NEURON (2006)
Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins
ER Graf et al.
CELL (2004)
Depletion of MAP2 expression and laminar cytoarchitectonic changes in dorsolateral prefrontal cortex in adult autistic individuals
EB Mukaetova-Ladinska et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2004)
Brain development in autism: Early overgrowth followed by premature arrest of growth
E Courchesne
MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS (2004)
Differential expression and dendritic transcript localization of Shank family members:: identification of a dendritic targeting element in the 3′ untranslated region of Shank1 mRNA
TM Böckers et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2004)
Structure and evolution of neurexin genes:: Insight into the mechanism of alternative splicing
K Tabuchi et al.
GENOMICS (2002)
Unusual brain growth patterns in early life in patients with autistic disorder - An MRI study
E Courchesne et al.
NEUROLOGY (2001)