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Bertrand Fontaine

Université Claude Bernard Lyon 1 · FR
Area of research
Molecular Biology · Cardiology and Cardiovascular Medicine
Research interest
Research interests include Biology, Medicine, Multiple sclerosis, Genetics, Genome-wide association study, and Genotyping.
h-index
citations
4,956
works
21
NIH funding
primary concept
email

Recent publications

Risk Factors and Time to Clinical Symptoms of Multiple Sclerosis Among Patients With Radiologically Isolated Syndrome
JAMA Network Open 2021cited by 84position: middledoi
Guidelines on clinical presentation and management of nondystrophic myotonias
Muscle & Nerve 2020cited by 93position: middledoi
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
Genetics in Medicine 2020cited by 49position: middledoi
Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility
Science 2019cited by 1,404position: middledoi
A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis
Nature Communications 2019cited by 82position: middledoi
Comparative effectiveness of teriflunomide vs dimethyl fumarate in multiple sclerosis
Neurology 2019cited by 43position: middledoi
Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk
Cell 2018cited by 171position: middledoi
Observatoire Français de la Sclérose en Plaques (OFSEP): A unique multimodal nationwide MS registry in France
Multiple Sclerosis Journal 2018cited by 128position: middledoi
Review of the Diagnosis and Treatment of Periodic Paralysis
Muscle & Nerve 2017cited by 261position: middledoi
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy
Journal of Neurology 2017cited by 45position: middledoi
Risk of relapse after natalizumab withdrawal
Neurology Neuroimmunology & Neuroinflammation 2016cited by 41position: middledoi
A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes
Journal of the Neurological Sciences 2016cited by 25position: middledoi
Genome-wide significant association with seven novel multiple sclerosis risk loci
Journal of Medical Genetics 2015cited by 41position: middledoi
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
Nature Genetics 2013cited by 1,435position: middledoi
ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy
PLoS Genetics 2013cited by 245position: middledoi
Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression
Brain 2013cited by 134position: middledoi
The multiple faces of the <i>ATP1A3</i>‐related dystonic movement disorder
Movement Disorders 2013cited by 71position: middledoi
Genome-wide significant association of <i>ANKRD55</i> rs6859219 and multiple sclerosis risk
Journal of Medical Genetics 2013cited by 34position: middledoi
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
Nature Genetics 2012cited by 421position: middledoi
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review
Journal of Inherited Metabolic Disease 2012cited by 115position: middledoi
Closing the case of <i>APOE</i> in multiple sclerosis: no association with disease risk in over 29 000 subjects: Figure 1
Journal of Medical Genetics 2012cited by 34position: middledoi

Grants

No grants ingested yet.

Frequent collaborators

Jeffrey Statland · George Washington University2 papers (2017–2020)Stephen C. Cannon · University of California, Los Angeles2 papers (2017–2020)Michael G. Hanna · Murdoch Children's Research Institute2 papers (2017–2020)Robert C. Griggs · University of Rochester2 papers (2017–2020)Valeria Sansone · University of Milan2 papers (2017–2020)Jaya Trivedi · Parkland Health & Hospital System2 papers (2017–2020) · 2 papers (2013–2016) · 1 papers (2020–2020)David Laplaud · Université Claude Bernard Lyon 11 papers (2018–2018)Diane Doummar · Sorbonne Université1 papers (2013–2013)Baziel G.M. van Engelen · Radboud Institute for Molecular Life Sciences1 papers (2020–2020)Aurélie Méneret · Centre National de la Recherche Scientifique1 papers (2013–2013)Bruno Brochet · Université Claude Bernard Lyon 11 papers (2018–2018) · 1 papers (2013–2013)Yuto Uchida · Johns Hopkins Medicine1 papers (2016–2016) · 1 papers (2016–2016)Yosuke Kokunai · Neurological Surgery1 papers (2016–2016)Bertrand Audoin · Université Claude Bernard Lyon 11 papers (2012–2012)Perry B. Shieh · Veterans Affairs Canada1 papers (2017–2017) · 1 papers (2013–2013)