Kolexia
Barth Magalie
Pédiatrie
Hôpital Larrey Angers
Angers, France
136 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies mitochondriales Déficience intellectuelle Épilepsie Prédisposition génétique à une maladie Phénylcétonuries Syndrome MELAS Malformations du système nerveux Ataxie Encéphalopathies

Industries

PTC Therapeutics
12 collaboration(s)
Dernière en 2022
ORCHARD THERAPEUTICS
10 collaboration(s)
Dernière en 2023
Sanofi
4 collaboration(s)
Dernière en 2022
Parexel
2 collaboration(s)
Dernière en 2023

Dernières activités

Urine-derived cells: a non-invasive approach to the analysis of mitochondrial functions and mitochondrial diseases diagnosis
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval.
Molecular genetics and metabolism   10 novembre 2023
Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I.
Frontiers in neurology   09 novembre 2023
Syndrome de MELAS par Magalie BARTH
Youtube @ FSMR BRAIN-TEAM   13 septembre 2023
MPS (RaDiCo Cohort) (RaDiCo-MPS): Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics
Essai Clinique (Institut National de la Santé Et de la Recherche Médicale, France)   12 septembre 2023
Loss-of-function variants in cause a syndromic neurodevelopmental disorder.
medRxiv : the preprint server for health sciences   16 juin 2023
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
European journal of neurology   10 juin 2023
Clinical, genetic and therapeutic aspects in Menkes disease: study of a French cohort and systematic literature review
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Neurology   19 avril 2023
Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders.
Medical sciences (Basel, Switzerland)   04 avril 2023