(FR) Étude des facteurs génétiques impliqués dans l’autisme et les troubles apparentés (projet “C07/C16”)
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PARIS: Paris Autism Research International Sib-Pair Study
The Paris Autism Research International Sib-pair (PARIS) Study has been launched as a collaborative project by Prof. M. Leboyer (Paris) and Prof. C. Gillberg (Göteborg) in the 2000s. Its main goal is to join […]
Around 1% of children are diagnosed with autism spectrum disorders (ASD), yet there are currently no drugs designed specifically to treat their main symptoms. Working to change this is the IMI-funded EU-AIMS project. The […]
Background on the genetics of ASD
Autism spectrum disorders (ASD) are a heterogeneous group of pervasive neurodevelopmental disorders affecting approximately 1% of the population. The diagnosis of ASD is based on impairments in reciprocal social communication and stereotyped behaviors. Behind […]
Phelan-McDermid Syndrome: from mechanisms to treatments
Our team identified the first mutations in the SHANK3 gene, showing it’s role in autism and Phelan-McDermid Syndrome (PMS). Thanks to a donation from the French Association of Phelan-McDermid Syndrome, we will continue the […]
The serotonin-NAS-melatonin pathway and susceptibility to ASD
Sleep difficulties are a major concern for families with ASD, but are often considered as an epiphenomenon, and therefore do not catch the attention of the medical and scientific community. In 2008, we reported […]
2020A chimeric mouse model to study human iPSC-derived neurons: the case of a truncating SHANK3 mutation., Sci Rep 2020 08; 10(1): 13315.
2019Both rare and common genetic variants contribute to autism in the Faroe Islands., NPJ Genom Med 2019 ; 4(): 1.
201511q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures., Am J Med Genet A 2015 Dec; 167A(12): 3019-30.
2014Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments., PLoS Genet 2014 Sep; 10(9): e1004580.
2014Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders, PLoS ONE 2014;9(3):e88600.
2012Crystal structure and functional mapping of human ASMT, the last enzyme of the melatonin synthesis pathway, J. Pineal Res. 2013 Jan;54(1):46-57.
2012Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders., PLoS Genet 2012 Feb; 8(2): e1002521.
2011Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders., J Pineal Res 2011 Nov; 51(4): 394-9.
2011Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations., PLoS One 2011 Mar; 6(3): e17289.
2010Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population, PLoS ONE 2010;5(7):e11495.
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