CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
about
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1Rare deletions at the neurexin 3 locus in autism spectrum disorderGenetic advances in the study of speech and language disordersThe distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disordersCandidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine developmentHigh affinity neurexin binding to cell adhesion G-protein-coupled receptor CIRL1/latrophilin-1 produces an intercellular adhesion complexModeling psychiatric disorders for developing effective treatmentsToward developmental models of psychiatric disorders in zebrafishA developmental and genetic classification for malformations of cortical development: update 2012Neurogenomics of speech and language disorders: the road aheadNode of Ranvier disruption as a cause of neurological diseasesHeterozygous deletion of α-neurexin I or α-neurexin II results in behaviors relevant to autism and schizophrenia.The Crystal Structure of the α-Neurexin-1 Extracellular Region Reveals a Hinge Point for Mediating Synaptic Adhesion and FunctionNeuronal central nervous system syndromes probably mediated by autoantibodiesPitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical ChallengeConnecting the CNTNAP2 Networks with Neurodevelopmental DisordersMutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disordersCopy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplicationsComprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder.Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autismGenetic targeting of NRXN2 in mice unveils role in excitatory cortical synapse function and social behaviorsShining a light on CNTNAP2: complex functions to complex disorders.CNTNAP2 and language processing in healthy individuals as measured with ERPsNeurexin-1 and frontal lobe white matter: an overlapping intermediate phenotype for schizophrenia and autism spectrum disordersRecent advances in the genetics of language impairmentThe role of genetics in the etiology of schizophreniaIndividual common variants exert weak effects on the risk for autism spectrum disordersE Proteins and ID Proteins: Helix-Loop-Helix Partners in Development and DiseaseCNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disordersSHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.Pitt-Hopkins Syndrome.Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.Sleep, plasticity and the pathophysiology of neurodevelopmental disorders: the potential roles of protein synthesis and other cellular processes.Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathiesThe ALS gene FUS regulates synaptic transmission at the Drosophila neuromuscular junction.Autism as a sequence: from heterochronic germinal cell divisions to abnormalities of cell migration and cortical dysplasias
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P2860
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
description
2009 nî lūn-bûn
@nan
2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
CNTNAP2 and NRXN1 are mutated ...... synaptic protein in Drosophila
@ast
CNTNAP2 and NRXN1 are mutated ...... synaptic protein in Drosophila
@en
CNTNAP2 and NRXN1 are mutated ...... synaptic protein in Drosophila
@en-gb
CNTNAP2 and NRXN1 are mutated ...... synaptic protein in Drosophila
@nl
type
label
CNTNAP2 and NRXN1 are mutated ...... synaptic protein in Drosophila
@ast
CNTNAP2 and NRXN1 are mutated ...... synaptic protein in Drosophila
@en
CNTNAP2 and NRXN1 are mutated ...... synaptic protein in Drosophila
@en-gb
CNTNAP2 and NRXN1 are mutated ...... synaptic protein in Drosophila
@nl
prefLabel
CNTNAP2 and NRXN1 are mutated ...... synaptic protein in Drosophila
@ast
CNTNAP2 and NRXN1 are mutated ...... synaptic protein in Drosophila
@en
CNTNAP2 and NRXN1 are mutated ...... synaptic protein in Drosophila
@en-gb
CNTNAP2 and NRXN1 are mutated ...... synaptic protein in Drosophila
@nl
P2093
P2860
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P1476
CNTNAP2 and NRXN1 are mutated ...... synaptic protein in Drosophila
@en
P2093
Alfredo Orrico
Amanda L Collins
Christiane Zweier
Eiko K de Jong
Emilia K Bijlsma
Markus Zweier
Merel A W Oortveld
P2860
P304
P3181
P356
10.1016/J.AJHG.2009.10.004
P407
P5008
P577
2009-11-01T00:00:00Z