Bertrand Fontaine

Inserm — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

71h-index21.9kcitations705works1.62yr avg
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Research Topics

Ion channel regulation and function(95), Cardiac electrophysiology and arrhythmias(57), Genetic Neurodegenerative Diseases(52), Multiple Sclerosis Research Studies(49), Hereditary Neurological Disorders(34)

Publications701 total

Progressive muscle metabolic reprogramming in asymptomatic ALS gene mutation carriers
2025
MuSK cysteine-rich domain antibodies are pathogenic in a mouse model of autoimmune myasthenia gravis
Journal of Clinical Investigation·2025· 1 citedOpen Access
Genetic architecture of Multiple Sclerosis patients in the French national OFSEP-HD cohort
2025Open Access
Multiple Sclerosis Patient Macrophages Impaired Metabolism Leads to an Altered Response to Activation Stimuli
Neurology Neuroimmunology & Neuroinflammation·2024· 7 citedOpen Access
The Acetylcholine Receptor: Functional Organization and Evolution During Synapse Formation
2024· 2 cited
The Safer Driver App Decreases Mobile Phone Induced Distracted Driving: Evidence From a Randomized Controlled Trial
Journal of Road Safety·2024· 1 citedOpen Access
Multiple Sclerosis Patient Macrophages Impaired Metabolism Leads to an Altered Response to Activation Stimuli
SSRN Electronic Journal·2024Open Access
Pulmonary vascular resistance in patients with neuromuscular disorders
Archives of cardiovascular diseases·2023
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome
Scientific Reports·2023· 5 citedOpen Access
Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy
Journal of the American Heart Association·2023· 5 citedOpen Access
In situ Post Etch Treatment on Ge-rich GST after etching in HBr-based plasma
2023
Prognosis of right ventricular systolic dysfunction in Duchenne muscular dystrophy patients
Archives of Cardiovascular Diseases Supplements·2022· 1 cited
Cardiac Outcomes in Adults With Mitochondrial Diseases
Journal of the American College of Cardiology·2022· 20 cited
New mutation in the beta 1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome
HAL (Le Centre pour la Communication Scientifique Directe)·2022
The cell polarity protein Vangl2 in the muscle shapes the neuromuscular synapse by binding to and regulating the tyrosine kinase MuSK
Science Signaling·2022· 11 cited
Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome
European Journal of Neurology·2022· 6 cited
Risk Factors and Time to Clinical Symptoms of Multiple Sclerosis Among Patients With Radiologically Isolated Syndrome
JAMA Network Open·2021· 77 citedOpen Access
Improved cardiac outcomes by early treatment with angiotensin-converting enzyme inhibitors in becker muscular dystrophy
European Heart Journal·2021Open Access
CHANNELOPATHIES AND RELATED DISORDERS
Neuromuscular Disorders·2021
CHANNELOPATHIES AND RELATED DISORDERS
Neuromuscular Disorders·2021
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Frequent Co-authors

Alexandra Dürr(10), Isabelle Cournu‐Rebeix(8), Sophie Nicole(8), Alexis Brice(8), J. de Sèze(7), An Goris(6), Janna Saarela(6), Bernhard Hemmer(6), Manuel Comabella(6), Maria Ban(6), Dorothea Buck(6), Bénédicte Dubois(6), Federica Esposito(6), Vincent Damotte(6), Sandra Vukusic(6), Caroline Papeix(6), Nikolaos A. Patsopoulos(5), Frauke Zipp(5), Roland Martinꝉ(5), Anne Spurkland(5)