Kolexia
Chouchane Mondher
Pédiatrie
Hôpital François Mitterrand
Dijon, France
41 Activités
27 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Amyotrophie spinale Atrophie Amyotrophie Encéphalopathies Épilepsie Amyotrophies spinales infantiles Déficience intellectuelle Spasmes infantiles Crises épileptiques

Industries

Novartis
3 collaboration(s)
Dernière en 2023
B3TSI
2 collaboration(s)
Dernière en 2021
Eisai
2 collaboration(s)
Dernière en 2022
PASCALEO
2 collaboration(s)
Dernière en 2023

Dernières activités

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
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
Brain : a journal of neurology   04 octobre 2023
What Is the Therapeutic Reference Range for Levetiracetam? Grand Round/A Case Study.
Therapeutic drug monitoring   17 mai 2022
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Molecular genetics and metabolism reports   18 octobre 2021
Expanded Access Program (EAP) for Nusinersen in Participants With Infantile-onset (Consistent With Type 1) Spinal Muscular Atrophy (SMA): Expanded Access Program (EAP) to Provide Nusinersen to Patients With Infantile-onset Spinal Muscular Atrophy (SMA)
Essai Clinique (Biogen)   01 avril 2021
West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature.
Frontiers in pediatrics   05 mars 2021
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Orphanet journal of rare diseases   12 juin 2020
P.379Fetal Acetylcholine Receptor Inactivation Syndrome (FARIS): A potentially treatable autoimmune disorder mimicking a wide range of genetic neuromuscular conditions
Neuromuscular disorders : NMD   01 octobre 2019
SMA THERAPIES I: P.168Treatment by nusinersen in spinal muscular atrophy type 1 patients older than 7 months: 14 months follow-up
Neuromuscular disorders : NMD   01 octobre 2018
Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.
Neurology   29 août 2018