Searching for ways out of the autism maze: genetic, epigenetic and environmental cluesMeta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairmentsCrystal structure and functional mapping of human ASMT, the last enzyme of the melatonin synthesis pathwayMutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autismReduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism.SHANK1 Deletions in Males with Autism Spectrum DisorderMutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disordersFunctional impact of global rare copy number variation in autism spectrum disordersSupport for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorderAbnormal melatonin synthesis in autism spectrum disordersMapping autism risk loci using genetic linkage and chromosomal rearrangements.Absence of deficits in social behaviors and ultrasonic vocalizations in later generations of mice lacking neuroligin4.Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHEIdentification of the human KIF13A gene homologous to Drosophila kinesin-73 and candidate for schizophreniaAutistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populationsMutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disabilitySequencing ASMT identifies rare mutations in Chinese Han patients with autismCntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmissionRecording Mouse Ultrasonic Vocalizations to Evaluate Social Communication.Social communication in mice--are there optimal cage conditions?Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populationsIndividual common variants exert weak effects on the risk for autism spectrum disordersA genome-wide scan for common alleles affecting risk for autismA synaptic trek to autismCNTN6 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.Adult male mice emit context-specific ultrasonic vocalizations that are modulated by prior isolation or group rearing environment.Neuroanatomical Diversity of Corpus Callosum and Brain Volume in Autism: Meta-analysis, Analysis of the Autism Brain Imaging Data Exchange Project, and Simulation.Contactin 4, -5 and -6 differentially regulate neuritogenesis while they display identical PTPRG binding sites.The asymmetry of telomere replication contributes to replicative senescence heterogeneity.Heterozygous FA2H mutations in autism spectrum disorders.An investigation of ribosomal protein L10 gene in autism spectrum disorders.Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls.Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population.Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.Mitochondrial function and male infertility.Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.Genetic variants of FOXP2 and KIAA0319/TTRAP/THEM2 locus are associated with altered brain activation in distinct language-related regions.Frequency and transmission of glutamate receptors GRIK2 and GRIK3 polymorphisms in patients with obsessive compulsive disorder.
P50
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P50
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ahli biologi asal Perancis
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neuroscientifique et universitaire français
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Thomas Bourgeron
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