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)Hum. Mol. Genet.
Human IFT52 mutations uncover a novel role for the protein in microtubule dyn...
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Journal (source)Am. J. Hum. Genet.
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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Journal (source)Hum. Mol. Genet.
Constitutively-active FGFR3 disrupts primary cilium length and IFT20 traffick...
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Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...
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Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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Journal (source)Proc Natl Acad Sci U S A
Agonists of prostaglandin E2 receptors as potential first in class treatment ...
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Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
-
Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...