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 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 the […]
Phelan McDermid Syndrome: from mechanisms to treatments
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder with non-specific clinical features. The main symptoms are hypotonia, intellectual disability (ID), absent or delayed speech together with minor dysmorphic features. More than half of the patients […]
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 […]
2019Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations, Sci Rep 2019 Jan;9(1):94.
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;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.