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The role of neuronal complexes in human X-linked brain diseasesX-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesRescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule.Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationCould autism with mental retardation result from digenism and frequent de novo mutations?Advances in cellular models to explore the pathophysiology of amyotrophic lateral sclerosis.Disruption of TCA Cycle and Glutamate Metabolism Identified by Metabolomics in an In Vitro Model of Amyotrophic Lateral Sclerosis.Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation.[Autism, genetics and synaptic function alterations].A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse.Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level.GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability.A novel mutation in the TM6 domain of GABBR2 leads to a Rett-like phenotype.Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French families.LIMK2d, a truncated isoform of Lim kinase 2 regulates neurite growth in absence of the LIM kinase domain.ANNALS EXPRESS: Post-hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability.GC-MS-based urine metabolic profiling of autism spectrum disorders.Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism.FG syndrome: The FGS2 locus revisitedFrom mental retardation to autism: common aspects, common genesAssociation of a Functional Deficit of the BK Ca Channel, a Synaptic Regulator of Neuronal Excitability, With Autism and Mental RetardationWhole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disabilityLIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual DisabilityNovel mutations in NLGN3 causing autism spectrum disorder and cognitive impairmentIdentification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders
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description
researcher ORCID: 0000-0003-2567-0708
@en
wetenschapper
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name
Frédéric Laumonnier
@ast
Frédéric Laumonnier
@en
Frédéric Laumonnier
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Frédéric Laumonnier
@nl
Frédéric Laumonnier
@sl
type
label
Frédéric Laumonnier
@ast
Frédéric Laumonnier
@en
Frédéric Laumonnier
@es
Frédéric Laumonnier
@nl
Frédéric Laumonnier
@sl
prefLabel
Frédéric Laumonnier
@ast
Frédéric Laumonnier
@en
Frédéric Laumonnier
@es
Frédéric Laumonnier
@nl
Frédéric Laumonnier
@sl
P1053
N-1165-2016
P106
P21
P31
P3829
P496
0000-0003-2567-0708