Familial deletion within NLGN4 associated with autism and Tourette syndrome - Wikidata - wikimedia - TriplyDB

Familial deletion within NLGN4 associated with autism and Tourette syndrome

Familial deletion within NLGN4 associated with autism and Tourette syndrome

http://www.wikidata.org/entity/Q28266485

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Why are autism spectrum conditions more prevalent in males?Recent advances in the pathogenesis of syndromic autisms Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist Neuroligins and neurexins link synaptic function to cognitive disease A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation Multiple rare variants in the etiology of autism spectrum disorders Current developments in the genetics of autism: from phenome to genome Pathogenic mechanism of an autism-associated neuroligin mutation involves altered AMPA-receptor trafficking An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus From Genetics to Epigenetics: New Perspectives in Tourette Syndrome Research Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder.Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications Behavioral phenotypes of genetic mouse models of autism.Genetic susceptibility and neurotransmitters in Tourette syndrome Neuropsychopharmacology and neurogenetic aspects of executive functioning: should reward gene polymorphisms constitute a diagnostic tool to identify individuals at risk for impaired judgment?Absence of deficits in social behaviors and ultrasonic vocalizations in later generations of mice lacking neuroligin4.Proteins that promote filopodia stability, but not number, lead to more axonal-dendritic contacts A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.The Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and Treatment The interplay between synaptic activity and neuroligin function in the CNS Common mechanisms of excitatory and inhibitory imbalance in schizophrenia and autism spectrum disorders Translational Mouse Models of Autism: Advancing Toward Pharmacological Therapeutics.Recent advances in the genetics of language impairment Animal models of tic disorders: a translational perspective.The implication of neuroactive steroids in Tourette's syndrome pathogenesis: A role for 5α-reductase?SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2.Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder Mouse models of autism: testing hypotheses about molecular mechanisms.Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites.Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans.Input-specific synaptic plasticity in the amygdala is regulated by neuroligin-1 via postsynaptic NMDA receptors Recent advances in Tourette syndrome.An inside job: how endosomal Na(+)/H(+) exchangers link to autism and neurological disease Communication, interventions, and scientific advances in autism: a commentary.Tourette syndrome is associated with recurrent exonic copy number variants A sex-specific association of common variants of neuroligin genes (NLGN3 and NLGN4X) with autism spectrum disorders in a Chinese Han cohort.Copy variations in schizophrenia and bipolar disorder.

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P2860

Familial deletion within NLGN4 associated with autism and Tourette syndrome

http://www.wikidata.org/entity/Q28266485

description

2008 nî lūn-bûn

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2008 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2008 թվականի մայիսին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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Familial deletion within NLGN4 associated with autism and Tourette syndrome

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Familial deletion within NLGN4 associated with autism and Tourette syndrome

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Familial deletion within NLGN4 associated with autism and Tourette syndrome

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Familial deletion within NLGN4 associated with autism and Tourette syndrome

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Familial deletion within NLGN4 associated with autism and Tourette syndrome

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Familial deletion within NLGN4 associated with autism and Tourette syndrome

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Familial deletion within NLGN4 associated with autism and Tourette syndrome

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Familial deletion within NLGN4 associated with autism and Tourette syndrome

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Familial deletion within NLGN4 associated with autism and Tourette syndrome

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SJ.EJHG.5202006

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European Journal of Human Genetics

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Familial deletion within NLGN4 associated with autism and Tourette syndrome

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P2093

Amy Lawson-Yuen

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Jonathan Picker

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Juan-Sebastian Saldivar

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Steve Sommer

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P2860

NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population

Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection

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sj.ejhg.5202006

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10.1038/SJ.EJHG.5202006

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