Kolexia
Fontaine Bertrand
Neurologie
Hôpital Pitie Salpetriere
Paris, France
139 Activités
0 Followers

Scientifique
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{{person.topmesh1.name}} Sclérose Sclérose en plaques Prédisposition génétique à une maladie Paralysie Canalopathies Myotonie Syndromes myasthéniques congénitaux Paralysie périodique hypokaliémique Maladie d'Alzheimer

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LUPIN ATLANTIS HOLDINGS SA
1 collaboration(s)
Dernière en 2021
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Dernières activités

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
Scientific reports   28 août 2023
Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy.
Journal of the American Heart Association   10 août 2023
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.
Nature genetics   19 juin 2023
Prognosis of right ventricular systolic dysfunction in Duchenne muscular dystrophy patients
JESFC 2023   01 janvier 2023
Cardiac Outcomes in Adults With Mitochondrial Diseases.
Journal of the American College of Cardiology   10 octobre 2022
The cell polarity protein Vangl2 in the muscle shapes the neuromuscular synapse by binding to and regulating the tyrosine kinase MuSK.
Science signaling   17 mai 2022
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
European journal of neurology   04 mai 2022
Treatabolome database: towards enhancing Rare Diseases’ treatment visibility
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy.
Journal of neuromuscular diseases   20 décembre 2021
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Journal of neuromuscular diseases   15 novembre 2021