Kolexia
Boespflug-Tanguy Odile Pédiatrie
Boespflug-Tanguy Odile
Pédiatrie
Hôpital Robert-Debré
Paris, France
186 Activités
5 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Leucoencéphalopathies Atrophie Amyotrophie Amyotrophie spinale Maladie de Pelizaeus-Merzbacher Maladies démyélinisantes héréditaires du système nerveux central Spasticité musculaire Paraplégie Paraplégie spasmodique héréditaire

Collaborateurs

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Rodriguez-Levi Diana
Rodriguez-Levi Diana
Hôpital Armand Trousseau, Paris, France
Elmaleh-Berges Monique
Elmaleh-Berges Monique
Hôpital Robert-Debré, Paris, France
Sarret Catherine
Sarret Catherine
Hôpital Estaing, Clermont-Ferrand, France
Servais Laurent
Servais Laurent
Hôpital Armand Trousseau, Paris, France

Industries

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Novartis
2 collaboration(s)
Dernière en 2022
Bluebird
2 collaboration(s)
Dernière en 2021
INC RESEARCH, LLC
1 collaboration(s)
Dernière en 2020
Roche
1 collaboration(s)
Dernière en 2022

Dernières activités

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Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clinical genetics   29 février 2024
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Clinical genetics   29 janvier 2024
Gene therapy for neurodegenerative disorders in children: dreams and realities.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie   05 décembre 2023
Sunfish parts 1 and 2: 4-year efficacy and safety data of risdiplam in types 2 and 3 spinal muscular atrophy (SMA)
Abstracts from the World Congress of Neurology (WCN 2023)   01 décembre 2023
Questioning cognitive heterogeneity and intellectual functioning in fetal alcohol spectrum disorders from the Wechsler intelligence scale for children.
The Clinical neuropsychologist   16 novembre 2023
Titin copy number variations associated with dominant inherited phenotypes.
Journal of medical genetics   07 novembre 2023
SUNFISH: A Two Part Seamless, Multi-Center Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of Risdiplam (RO7034067) in Type 2 and 3 Spinal Muscular Atrophy Patients
Essai Clinique (Roche)   23 octobre 2023
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology   19 octobre 2023
Childhood cerebral adrenoleukodystrophy (CCALD) in France: Epidemiology, natural history, and burden–A real-world study using registry data linked to the French national claims database
Abstracts of ICPE 2023, the 39th international conference on pharmacoepidemiology and therapeutic risk management (ICPE), 25–27 August 2023, Halifax, Canada   12 octobre 2023
Mirror Movements Due To a TUBB3 Variant.
Pediatric neurology   25 août 2023