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  1. Article

    Open Access

    Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

    Synapse development and neuronal activity represent fundamental processes for the establishment of cognitive function. Structural organization as well as signalling pathways from receptor stimulation to gene e...

    D C Ung, G Iacono, H Méziane, E Blanchard, M-A Papon, M Selten… in Molecular Psychiatry (2018)

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  2. No Access

    Article

    GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability

    Phenotypic and genetic heterogeneity is predominant in autism spectrum disorders (ASD), for which the molecular and pathophysiological bases are still unclear. Significant comorbidity and genetic overlap betwe...

    F Bonnet-Brilhault, S Alirol, R Blanc, S Bazaud, S Marouillat… in Molecular Psychiatry (2016)

  3. Article

    Open Access

    X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

    X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of f...

    H Hu, S A Haas, J Chelly, H Van Esch, M Raynaud, A P M de Brouwer… in Molecular Psychiatry (2016)

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  4. No Access

    Article

    Advances in Cellular Models to Explore the Pathophysiology of Amyotrophic Lateral Sclerosis

    Amyotrophic lateral sclerosis (ALS), the most common adult-onset motor neuron disorder, is fatal for most patients less than 3 years from when the first symptoms appear. The aetiologies for sporadic and most f...

    C. Veyrat-Durebex, P. Corcia, A. Dangoumau, F. Laumonnier… in Molecular Neurobiology (2014)

  5. No Access

    Chapter

    Apport des neurosciences en pratique clinique : exemple de l’autisme

    L’histoire des neurosciences est intimement liée à celle de l’autisme. C’est en effet l’essor des recherches dans le champ des neurosciences qui a profondément modifié les concepts théoriques sur lesquels étai...

    F. Bonnet-Brilhault, M. Gomot, F. Laumonnier in Apport des neurosciences à la psychiatrie … (2014)

  6. No Access

    Article

    Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families

    Dyslexia is a frequent neurodevelopmental learning disorder. To date, nine susceptibility loci have been identified, one of them being DYX9, located in Xq27. We performed the first French SNP linkage study fol...

    M. Huc-Chabrolle, C. Charon, A. Guilmatre, P. Vourc’h, G. Tripi… in Behavior Genetics (2013)

  7. No Access

    Article

    Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability

    The nonsense-mediated mRNA decay (NMD) pathway was originally discovered by virtue of its ability to rapidly degrade aberrant mRNAs with premature termination codons. More recently, it was shown that NMD also ...

    L S Nguyen, L Jolly, C Shoubridge, W K Chan, L Huang, F Laumonnier… in Molecular Psychiatry (2012)

  8. No Access

    Article

    Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

    Mutations in the UPF3B gene, which encodes a protein involved in nonsense-mediated mRNA decay, have recently been described in four families with specific (Lujan–Fryns and FG syndromes), nonspecific X-linked ment...

    F Laumonnier, C Shoubridge, C Antar, L S Nguyen, H Van Esch… in Molecular Psychiatry (2010)