Presentation
Full Professor in Developmental Neuropsychology, Faculty of Medicine, University of Paris - Paris Descartes, and senior Member of the Institut Universitaire de France (IUF), Affiliated to Imagine Institute (Endocrinological Pediatric), and to Research Institute in Public Health (IReSP) ; Clinical Neuropsychologist at Necker-Enfants-Malades Hospital, AP-HP.5, Paris.
Leader of the research team NTDA «Neurodevelopment and learning disabilities »in Inserm Unit 1178-1018-CESP.
Area of expertises focus on the field of the neuro-developmental knowledges on children, from neonate to adolescent, from normal to pathology, with a transactional clinical assessment (on neuromotor, neuropsychological and psychopathological investigations), based on a fine semiology with new neuro-developmental standardized assessments and on environmental factors in a way to understand conditions and processes of developmental trajectories in which appear functioning and dysfunctioning.
The aims being first to understand the underlying cerebral mechanism, the nature and the origin of an eventual disorder with the identification of homogeneous neurodevelopmental profiles in order to enhance the knowledge from a physiological or pathological/endophenotyping point of view, on nosography, specific markers and involved factors, phenotyping characterization and genotyping/phenotyping correlations.
Secondly, to contribute to the preventive interventions and strategies of remediation.
Resources & publications
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Journal (source)Rheumatology (Oxford)
Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defi...
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Journal (source)The New England journal of medicine 2019
Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
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Journal (source)Nature communications
Type I interferon-mediated autoinflammation due to DNase II deficiency.
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Journal (source)The journal of experimental medicine 2017
Detection of interferon alpha protein reveals differential levels and cellula...
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Journal (source)The journal of experimental medicine 2020
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and inte...
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Journal (source)J Clin Immunol
STING-Mediated Lung Inflammation and Beyond.
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Journal (source)J Clin Immunol
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue ...
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Journal (source)Journal of Allergy Clinical Immunology: In practice 2020
Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among ...
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Journal (source)Nature genetics
cGAS-mediated induction of type I interferon due to inborn errors of histone ...
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Journal (source)Journal of allergy and clinical immunology 2020
JAK inhibition in the type I interferonopathies.
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Journal (source)The journal of experimental medicine 2021
Enhanced cGAS-STING-dependent interferon signaling associated with mutations ...
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Journal (source)Rheumatology (Oxford)
Rheumatoid factor positive polyarticular juvenile idiopathic arthritis associ...
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Journal (source)Lancet Neurol
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
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Journal (source)J Exp Med
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus an...
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Journal (source)J Exp Med
Enhanced cGAS-STING-dependent interferon signaling associated with mutations ...
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Journal (source)J Exp Med
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and inte...
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Journal (source)Nat Genet
cGAS-mediated induction of type I interferon due to inborn errors of histone ...
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Journal (source)J Exp Med
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and inte...