Kolexia
Desguerre Isabelle Pédiatrie
Desguerre Isabelle
Pédiatrie
Hôpital Necker Enfants Malades
Paris, France
364 Activités
114 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Myopathie de Duchenne Dystrophies musculaires Amyotrophie spinale Atrophie Amyotrophie Épilepsie Maladies neuromusculaires Amyotrophies spinales infantiles Paralysie

Collaborateurs

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Barnerias Christine
Barnerias Christine
Hôpital Necker Enfants Malades, Paris, France
Boddaert Nathalie
Boddaert Nathalie
Hôpital Necker Enfants Malades, Paris, France
Quijano-Roy Susana
Quijano-Roy Susana
Hôpital Raymond-Poincaré, Garches, France
Gitiaux Cyril
Gitiaux Cyril
Hôpital Necker Enfants Malades, Paris, France

Industries

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Novartis
23 collaboration(s)
Dernière en 2023
AveXis
11 collaboration(s)
Dernière en 2021
Roche
5 collaboration(s)
Dernière en 2021
Biogen
4 collaboration(s)
Dernière en 2022

Dernières activités

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Registry of Translarna (Ataluren) in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD): Long-Term Observational Study of Translarna Safety and Effectiveness in Usual Care
Essai Clinique (PTC Therapeutics)   18 mars 2024
Evaluating the Pharmacokinetics, Pharmacodynamics, and Safety of Efgartigimod Administered Intravenously in Children With Generalized Myasthenia Gravis: Open-label Uncontrolled Trial to Evaluate Pharmacokinetics, Pharmacodynamics, Safety, and Activity of Efgartigimod in Children From 2 to Less Than 18 Years of Age With Generalized Myasthenia Gravis
Essai Clinique (argenx)   13 mars 2024
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society   26 février 2024
IMUSMA: Quantification of Motor Function in Infants With Spinal Muscular Atrophy Treated With Innovative Therapies, IMUSMA Project
Essai Clinique (Assistance publique – Hôpitaux de Paris)   31 janvier 2024
Recurrent "outsider" intronic variation in the 6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Frontiers in genetics   29 janvier 2024
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.
Journal of neuromuscular diseases   18 janvier 2024
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie   21 décembre 2023
Le syndrome Axenfeld-Rieger
HAS Publications   21 décembre 2023
Neurological Outcomes and Quality of Life in Children After Extracorporeal Membrane Oxygenation.
Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies   13 décembre 2023
OPALE: Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
Essai Clinique (Hôpital Pitie Salpetriere)   13 décembre 2023