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Nonprimed and DYRK1A-primed GSK3β-phosphorylation sites on MAP1B regulate microtubule dynamics in growing axons
Timothy M. E. Scales et al.
JOURNAL OF CELL SCIENCE (2009)
Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A
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T. Kleefstra et al.
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Altered GABAA,slow Inhibition and Network Oscillations in Mice Lacking the GABAA Receptor β3 Subunit
Harald Hentschke et al.
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Uniquely Hominid Features of Adult Human Astrocytes
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Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice
Santhosh Girirajan et al.
MAMMALIAN GENOME (2009)
Common genetic variants on 5p14.1 associate with autism spectrum disorders
Kai Wang et al.
NATURE (2009)
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CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis
Masaaki Nishiyama et al.
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Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes
S. Russo et al.
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Maria Luisa Scattoni et al.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2009)
Epidemiology of Pervasive Developmental Disorders
Eric Fombonne
PEDIATRIC RESEARCH (2009)
Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes
Maja Bucan et al.
PLOS GENETICS (2009)
Parallel RNAi screens across different cell lines identify generic and cell type-specific regulators of actin organization and cell morphology
Tao Liu et al.
GENOME BIOLOGY (2009)
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
Maricela Alarcon et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Structural variation of chromosomes in autism spectrum disorder
Christian R. Marshall et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism
Dan E. Arking et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Molecular cytogenetic analysis and resequencing of Contactin Associated Protein-Like 2 in autism spectrum disorders
Betul Bakkaloglu et al.
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Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay
Alisa Nakamine et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Analysis of X chromosome inactivation in autism spectrum disorders
Xiaohong Gong et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2008)
Genetic Evidence Implicating Multiple Genes in the MET Receptor Tyrosine Kinase Pathway in Autism Spectrum Disorder
Daniel B. Campbell et al.
AUTISM RESEARCH (2008)
Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene
Corinne A. Spencer et al.
BEHAVIORAL NEUROSCIENCE (2008)
Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: A potential model of autism spectrum disorder
Timothy M. DeLorey et al.
BEHAVIOURAL BRAIN RESEARCH (2008)
Ankyrin repeats-containing cofactors interact with ADA3 and modulate its co-activator function
Chia-Wei Li et al.
BIOCHEMICAL JOURNAL (2008)
Trafficking of cholinesterases and neuroligins mutant proteins An association with autism
Antonella De Jaco et al.
CHEMICO-BIOLOGICAL INTERACTIONS (2008)
The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development
Barbara Hammerle et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2008)
Tuberous sclerosis complex proteins control axon formation
Yong-Jin Choi et al.
GENES & DEVELOPMENT (2008)
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome
Jessica Molina et al.
HUMAN MOLECULAR GENETICS (2008)
Neuroligins and neurexins link synaptic function to cognitive disease
Thomas C. Sudhof
NATURE (2008)
Efficient derivation of functional dopaminergic neurons from human embryonic stem cells on a large scale
Myung-Soo Cho et al.
NATURE PROTOCOLS (2008)
Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function
Gary J. Bassell et al.
NEURON (2008)
Prenatal exposure to sex steroid hormones and behavioral/cognitive outcomes
JoAnn E. Manson
METABOLISM-CLINICAL AND EXPERIMENTAL (2008)
EXPRESSION OF FRAGILE X MENTAL RETARDATION PROTEIN WITHIN THE VOCAL CONTROL SYSTEM OF DEVELOPING AND ADULT MALE ZEBRA FINCHES
C. Winograd et al.
NEUROSCIENCE (2008)
Prenatal stress and risk for autism
Dennis K. Kinney et al.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2008)
A Functional Genetic Link between Distinct Developmental Language Disorders
Sonja C. Vernes et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Association between microdeletion and microduplication at 16p11.2 and autism
Lauren A. Weiss et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
A Drosophila model for Angelman syndrome
Yaning Wu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (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)
Analysis of the neuroligin 4Y gene in patients with autism
Jin Yan et al.
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MeCP2, a key contributor to neurological disease, activates and represses transcription
Maria Chahrour et al.
SCIENCE (2008)
Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons
John T. Dimos et al.
SCIENCE (2008)
Genetic Modifiers of MeCP2 Function in Drosophila
Holly N. Cukier et al.
PLOS GENETICS (2008)
Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome
Jocelyn M. Bischof et al.
HUMAN MOLECULAR GENETICS (2007)
Genome-wide analyses of human perisylvian cerebral cortical patterning
B. S. Abrahams et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice
Katsuhiko Tabuchi et al.
SCIENCE (2007)
Social, emotional, and behavioral functioning of children with NF1
Robert B. Noll et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Disruption of cerebral cortex MET signaling in autism spectrum disorder
Daniel B. Campbell et al.
ANNALS OF NEUROLOGY (2007)
Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes
Weimin Bi et al.
HUMAN MOLECULAR GENETICS (2007)
Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1
Aihua Zhang et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (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)
Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation
Hitoshi Osaka et al.
EPILEPSY RESEARCH (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)
Strong association of de novo copy number mutations with autism
Jonathan Sebat et al.
SCIENCE (2007)
Mechanisms of TSC-mediated Control of Synapse Assembly and Axon Guidance
Sarah Knox et al.
PLOS ONE (2007)
Chromatin modifications and their function
Tony Kouzarides
CELL (2007)
A genetic variant that disrupts MET transcription is associated with autism
Daniel B. Campbell et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
M-L Jacquemont et al.
JOURNAL OF MEDICAL GENETICS (2006)
Immunizations and autism: A review of the literature
Asif Doja et al.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2006)
Reduced MeCP2 Expression is Frequent in Autism Frontal Cortex and Correlates with Aberrant MECP2 Promoter Methylation
Raman P. Nagarajan et al.
EPIGENETICS (2006)
Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase
Lawrence T. Reiter et al.
HUMAN MOLECULAR GENETICS (2006)
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients
H. L. Archer et al.
JOURNAL OF MEDICAL GENETICS (2006)
Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism
Z Talebizadeh et al.
JOURNAL OF MEDICAL GENETICS (2006)
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
KA Strauss et al.
NEW ENGLAND JOURNAL OF MEDICINE (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)
Assessing nest building in mice
Robert M. J. Deacon
NATURE PROTOCOLS (2006)
Severe myoclonic epilepsy of infants (Dravet syndrome): Natural history and neuropsychological findings
Markus Wolff et al.
EPILEPSIA (2006)
Association of GABRB3 polymorphisms with autism spectrum disorders in Korean trios
Soon Ae Kim et al.
NEUROPSYCHOBIOLOGY (2006)
Analysis of four neuroligin genes as candidates for autism
T Ylisaukko-oja et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review
MWM Veltman et al.
PSYCHIATRIC GENETICS (2005)
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions
S Girirajan et al.
JOURNAL OF MEDICAL GENETICS (2005)
Alterations in the phenotype of neocortical pyramidal cells in the Dyrk1A+/- mouse
R Benavides-Piccione et al.
NEUROBIOLOGY OF DISEASE (2005)
REST and its corepressors mediate plasticity of neuronal gene chromatin throughout neurogenesis
N Ballas et al.
CELL (2005)
Intergenerational transmission of subthreshold autistic traits in the general population
JN Constantino et al.
BIOLOGICAL PSYCHIATRY (2005)
Local structural balance and functional interaction of excitatory and inhibitory synapses in hippocampal dendrites
GS Liu
NATURE NEUROSCIENCE (2004)
Role of Unc51.1 and its binding partners in CNS axon outgrowth
T Tomoda et al.
GENES & DEVELOPMENT (2004)
Association and transmission analysis of the FMR1 IVS10+14C-T variant in autism
JB Vincent et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2004)
Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators
AH Zhang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse
QJ Yan et al.
GENES BRAIN AND BEHAVIOR (2004)
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
LS Weaving et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population
T Marui et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2004)
The fragile X protein controls microtubule-associated protein 1B translation and microtubule stability in brain neuron development
R Lu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Sociability and preference for social novelty in five inbred strains: an approach to assess autistic-like behavior in mice
SS Moy et al.
GENES BRAIN AND BEHAVIOR (2004)
Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1
S Poliak et al.
JOURNAL OF CELL BIOLOGY (2003)
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
S Jamain et al.
NATURE GENETICS (2003)
Sodium channels SCN1A, SCN2A and SCN3A in familial autism
LA Weiss et al.
MOLECULAR PSYCHIATRY (2003)
Corepressor-dependent silencing of chromosomal regions encoding neuronal genes
VV Lunyak et al.
SCIENCE (2002)
Regulation of Gli1 transcriptional activity in the nucleus by Dyrk1
JH Mao et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice
V Fotaki et al.
MOLECULAR AND CELLULAR BIOLOGY (2002)
Mnb/Dyrk1A is transiently expressed and asymmetrically segregated in neural progenitor cells at the transition to neurogenic divisions
B Hämmerle et al.
DEVELOPMENTAL BIOLOGY (2002)
Drosophila lacking dfmr1 activity show defects in circadian output and fail to maintain courtship interest
TC Dockendorff et al.
NEURON (2002)
Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain
J Morales et al.
NEURON (2002)
Reduced cortical synaptic plasticity and GluR1 expression associated with fragile X mental retardation protein deficiency
JX Li et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2002)
Association between a GABRB3 polymorphism and autism
JD Buxbaum et al.
MOLECULAR PSYCHIATRY (2002)
Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome
V Brown et al.
CELL (2001)
The fragile X mental retardation protein inhibits translation via interacting with mRNA
ZZ Li et al.
NUCLEIC ACIDS RESEARCH (2001)
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
J Guy et al.
NATURE GENETICS (2001)
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
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NATURE GENETICS (2001)
Tbr1 regulates differentiation of the preplate and layer 6
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NEURON (2001)
A screening instrument for autism at 18 months of age: A 6-year follow-up study
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Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes
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HUMAN MOLECULAR GENETICS (2000)
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