Ligne de temps

Claire Leblond
Chercheur(euse) Permanent(e)
25 Mar 2022
tool

GeneTrek

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11 Jun 2020
project

PARIS: Paris Autism Research International Sib-Pair Study

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21 Jan 2019
publication

Both rare and common genetic variants contribute to autism in the Faroe Islands

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27 Feb 2018
project

EU-AIMS

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03 Feb 2017
publication

Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population

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01 Jan 2017
publication

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

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14 Nov 2016
project

Background on the genetics of ASD

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13 Oct 2016
publication

The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder

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25 Jul 2016
publication

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

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03 May 2016
publication

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson’s disease

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15 Apr 2016
publication

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

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10 Mar 2016
publication

De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia

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25 Feb 2016
publication

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

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22 Feb 2016
project

Le syndrome de Phelan-McDermid : des mécanismes aux traitements

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01 Dec 2015
publication

11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures.

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28 Sep 2015
publication

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

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31 Jul 2015
publication

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

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16 Jul 2015
project

The serotonin-NAS-melatonin pathway and susceptibility to ASD

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25 Jun 2015
publication

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

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17 Jun 2015
publication

Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome

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05 May 2015
publication

LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis

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01 May 2015
publication

Parkinson’s Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder

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22 Apr 2015
publication

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients

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17 Mar 2015
publication

Genetic markers of Restless Legs Syndrome in Parkinson disease

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19 Feb 2015
publication

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

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01 Dec 2014
team

Génétique Humaine et Fonctions Cognitives

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22 Oct 2014
publication

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS

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01 Sep 2014
publication

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

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03 Dec 2013
publication

Heterozygous FA2H mutations in autism spectrum disorders

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28 Aug 2013
publication

The Autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations

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29 Apr 2012
publication

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2.

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09 Feb 2012
publication

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

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01 Nov 2011
publication

Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.

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04 Mar 2011
publication

Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.

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05 Jan 2011
publication

Behavioral profiles of mouse models for autism spectrum disorders

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06 Jul 2010
publication

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders.

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