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 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 […]
2019Both rare and common genetic variants contribute to autism in the Faroe Islands, NPJ Genom Med. 2019 Jan 21.
2017A framework to identify contributing genes in patients with Phelan-McDermid syndrome, NPJ Genom Med 2017;2:32.
2017Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population, Mov. Disord. 2017 Feb;32(2):292-295.
2016The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder, Neurobiol. Aging 2017 Jan;49:218.e13-218.e15.
2016NEK1 variants confer susceptibility to amyotrophic lateral sclerosis, Nat. Genet. 2016 09;48(9):1037-42.
2016Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson’s disease, Neurobiol. Aging 2016 09;45:212.e13-212.e17.
2016CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia, Nat Commun 2016 Apr;7:11253.
2016De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia, Neurol Genet 2016 Apr;2(2):e63.
2016Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD, Acta Neuropathol Commun 2016 Feb;4:18.
2015Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis, Neurobiol. Aging 2016 Jan;37:209.e17-209.e21.
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