A5022818169- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Otitis Media and Relapsing Polychondritis
- Congenital heart defects research
- Attention Deficit Hyperactivity Disorder
- Action Observation and Synchronization
- Biomedical Research and Pathophysiology
- Pain Management and Placebo Effect
- Vasculitis and related conditions
- Genomic variations and chromosomal abnormalities
- Genetic Neurodegenerative Diseases
- Cellular transport and secretion
- Epigenetics and DNA Methylation
- Coronary Artery Anomalies
- Neonatal and fetal brain pathology
- Motor Control and Adaptation
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Neurobiology of Language and Bilingualism
- Immunodeficiency and Autoimmune Disorders
- Down syndrome and intellectual disability research
- Genomics and Rare Diseases
- Fetal and Pediatric Neurological Disorders
- Williams Syndrome Research
- Mitochondrial Function and Pathology
- Kawasaki Disease and Coronary Complications
Centre National de la Recherche Scientifique
2011-2024
Hospices Civils de Lyon
2013-2024
Inserm
2015-2024
Hôpital Femme Mère Enfant
2008-2024
Centre de Recherche en Neurosciences de Lyon
2023-2024
Groupe Hospitalier du Havre
2020-2024
Institut des Maladies Génétiques Imagine
2024
Centre Hospitalier Le Vinatier
2024
Université Claude Bernard Lyon 1
2007-2023
Université de Rouen Normandie
2019-2021
An antagonist for the metabotropic glutamate receptor may improve symptoms in patients with fragile X syndrome whose FMR1 promoters are fully methylated.
The aim of the study was to redefine phenotype Allan–Herndon–Dudley syndrome ( AHDS ), which is caused by mutations in SLC 16A2 gene that encodes brain transporter thyroid hormones. Clinical phenotypes, imaging, hormone profiles, and genetic data were compared existing literature. Twenty‐four males aged 11 months 29 years had a mutation , including 12 novel five previously described mutations. Sixteen patients presented with profound developmental delay, three severe intellectual disability...
Since the first reports of polyglutamine-binding protein 1 (PQBP1) mutations in Renpenning syndrome and related disorders, spectrum PQBP1-linked clinical manifestations has been outlined from rare published case reports. The phenotypic description is often obtained medical archives, therefore, heterogeneous. Moreover, some aspects such as brain imaging or cognitive behavioral functioning are rarely described. In this study, 13 PQBP1-mutated French patients were subjected to a standardized...
Creatine transporter deficiency (CTD) is a rare X-linked genetic disorder characterized by intellectual disability (ID). We evaluated the clinical characteristics and trajectory of patients with CTD impact disease on caregivers to identify relevant endpoints for future therapeutic trials.
Procedural learning refers to rule-based motor skill and storage. It involves the cerebellum, striatum areas of frontal lobe network. Fragile X syndrome, which has been linked with anatomical abnormalities within striatum, may result in implicit procedural deficit.To address this issue, a serial reaction time (RT) task including six blocks trials was performed by 14 individuals fragile 12 Down syndrome mental age-matched control subjects. The first (B1) fifth (B5) were random whereas others...
Using targeted next generation sequencing, we have identified a splicing mutation (c.526‐9_526‐5del) in the SLC9A6 gene 9‐year‐old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic microdeletion leads to skipping of exon 3 an in‐frame deletion 26 amino acids TM4 domain. It segregates cognitive impairment or learning difficulties other members family. Mutations been reported X‐linked Christianson syndrome associating severe profound...
Evidence that the motor and linguistic systems share common syntactic representations would open new perspectives on language evolution. Here, crossing disciplinary boundaries, we explore potential parallels between structure of simple actions sentences. First, examining Typically Developing (TD) children displacing a bottle with or without knowledge its weight prior to movement onset, provide kinematic evidence sub-phases this action (reaching + moving bottle) manifest akin embedded...
The aristaless-related homeobox (ARX) transcription factor is involved in the development of GABAergic and cholinergic neurons forebrain. ARX mutations have been associated with a wide spectrum neurodevelopmental disorders humans, among which most frequent, 24 bp duplication polyalanine tract 2 (c.428_451dup24), gives rise to intellectual disability, fine motor defects or without epilepsy. To understand functional consequences this mutation, we generated partially humanized mouse model...
Methyl-CpG-binding protein 2 (MECP2) deleterious variants, which are responsible for Rett syndrome in girls, involved a wide spectrum of developmental disabilities males. A neuropsychiatric phenotype without intellectual disability is uncommon patients with MECP2 variants. We report on two dizygotic twins an MECP2-related psychiatric disorder disability. Neuropsychological and assessments were performed, genetic analysis was carried out. Both fulfilled the Pervasive Developmental Disorder...
Childhood-onset autosomal dominant cerebellar ataxia type 7 (SCA7) is a severe disease which leads to premature loss of ambulation and death. Early diagnosis SCA7 major importance for genetic counselling still relies on specific testing, driven by clinical expertise. However, the precise phenotype natural history paediatric has not yet been fully described. Our aims were describe in large multicentric series children all ages, find correlates variables defining this history.We collected...
The c.429_452dup24 of the ARX gene is a rare genetic anomaly, leading to X-Linked Intellectual Disability without brain malformation. While in certain cases has been associated with specific clinical patterns such as Partington syndrome, consequence this mutation also often classified "non-specific Disability". present work aims at more precise description features linked mutation. We clinically reviewed all affected patients identified France over five-year period, i.e. 27 from 12 different...
Background Intellectual Disability (ID) is characterized by deficits in intellectual functions such as reasoning, problem-solving, planning, abstract thinking, judgment, and learning. As new avenues are emerging for treatment of genetically determined ID (such Down's syndrome or Fragile X syndrome), it necessary to identify objective reliable sensitive outcome measures use clinical trials. Objective We developed a novel visual analogical reasoning paradigm, inspired the Progressive Raven's...
Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is caused by an autoantibody-mediated deficiency in ADAMTS13. In healthy individuals, ADAMTS13 has a folded conformation which the central spacer (S) domain interacts with C-terminal CUB domains. We recently showed that adopts open iTTP and patient immunoglobulin G antibodies (IgGs) can Anti-ADAMTS13 autoantibodies patients are directed against different domains, but almost all have binding to cysteine/spacer (CS) this study, we...
Abstract Background Immune Checkpoint Inhibitors (ICPIs) are promising new drugs in treatment of advanced tumours targeting cytotoxic T-lymphocyte antigen-4 (CTLA-4) and programmed cell death protein-1 (PD1) or its ligand (PDL-1). Ipilimumab is a monoclonal antibody the CTLA-4 receptor used metastatic melanoma. By increasing activity immune system, ICPIs lead to immune-related adverse events, such as dermatitis, colitis hepatitis. ICPIs-related kidney events rare acute tubulointerstitial...