Author details

Full Name

Bertrand Fontaine

Affiliation

ORCID

Career Start Year

1969

Papers

328

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37337107	Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.	Nat Genet	2023
37581390	Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy.	J Am Heart Assoc	2023
37640745	New mutation in the Î²1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.		2023
36202532	Cardiac Outcomes in Adults WithÂ Mitochondrial Diseases.	J Am Coll Cardiol	2022
35460302	Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.	European Journal of Neurology	2022
35580169	The cell polarity protein Vangl2 in the muscle shapes the neuromuscular synapse by binding to and regulating the tyrosine kinase MuSK.	Science Signaling	2022
34702654	Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study.	Neuromuscular Disorders	2021
33752678	Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.	Orphanet J Rare Dis	2021
33814458	Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy.	Journal of Neuromuscular Diseases	2021
33325393	Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.	Journal of Neuromuscular Diseases	2021
34391810	P2X7-deficiency improves plasticity and cognitive abilities in a mouse model of Tauopathy.	Progress in Neurobiology	2021
30541380	Observatoire FranÃ§ais de la SclÃ©rose en Plaques (OFSEP): A unique multimodal nationwide MS registry in France.	Multiple Sclerosis Journal	2020
31936765	The Rare Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis.	Cells	2020
32270509	Guidelines on clinical presentation and management of nondystrophic myotonias.	Muscle and Nerve	2020
33659639	New recessive mutations in causing severe presynaptic congenital myasthenic syndromes.	Neurology: Genetics	2020
32787960	A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.	Orphanet J Rare Dis	2020
33005891	Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor.	Brain Communications	2020
30774071	[The purinergic receptor P2X7, a new therapeutic target in Alzheimer' disease].	Medecine/Sciences	2019
31577531	Spike threshold adaptation diversifies neuronal operating modes in the auditory brain stem.	Journal of Neurophysiology	2019
29934546	New role of P2X7 receptor in an Alzheimer's disease mouse model.	Molecular Psychiatry	2019
31068484	Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>.	Neurology	2019
29125635	Review of the Diagnosis and Treatment of Periodic Paralysis.	Muscle and Nerve	2018
30420713	A204E mutation in Na1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.	Scientific Reports	2018
29391559	Substitutions of the S4DIV R2 residue (R1451) in Na1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.	Scientific Reports	2018
27723233	Distinct inflammatory phenotypes of microglia and monocyte-derived macrophages in Alzheimer's disease models: effects of aging and amyloid pathology.	Aging Cell	2017
28334918	Adaptive human immunity drives remyelination in a mouse model of demyelination.	Brain	2017
28671658	Analysis of Microglia and Monocyte-derived Macrophages from the Central Nervous System by Flow Cytometry.	Journal of Visualized Experiments	2017
28716533	Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis.	Neurobiol Aging	2017
28712002	Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.	Journal of Neurology	2017
28441389	The basis of sharp spike onset in standard biophysical models.	PLoS ONE	2017
27569547	Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.	Am J Hum Genet	2016
27194806	Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.	G3: Genes, Genomes, Genetics	2016
26865522	A newly approved drug for a rare group of diseases: Dichlorphenamide for periodic paralysis.	Neurology	2016
27039700	Power estimation for non-standardized multisite studies.	Neuroimage	2016
26659129	A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.	Neurology	2016
27657697	COMT Val158Met Polymorphism Modulates Huntington's Disease Progression.	PLoS One	2016
27653901	A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.	Journal of the Neurological Sciences	2016
26669675	Investigation of sex-specific effects of apolipoprotein E on severity of EAE and MS.	Journal of Neuroinflammation	2015
25915620	Neural tuning matches frequency-dependent time differences between the ears.	eLife	2015
25909082	Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients.	Annals of Clinical and Translational Neurology	2015
25315358	Reverse correlation analysis of auditory-nerve fiber responses to broadband noise in a bird, the barn owl.	JARO - Journal of the Association for Research in Otolaryngology	2015
26475045	Genome-wide significant association with seven novel multiple sclerosis risk loci.	Journal of Medical Genetics	2015
26343388	Class II HLA interactions modulate genetic risk for multiple sclerosis.	Nat Genet	2015
26285000	Skeletal muscle sodium channelopathies.	Current Opinion in Neurology	2015
25073809	[What about a new job in the health system: The coordinator of care].	Presse Medicale	2014
23895407	A prospective observational post-marketing study of natalizumab-treated multiple sclerosis patients: clinical, radiological and biological features and adverse events. The BIONAT cohort.	European Journal of Neurology	2014
24430173	A gene pathway analysis highlights the role of cellular adhesion molecules in multiple sclerosis susceptibility.	Genes Immun	2014
23659577	Axonal expression of sodium channels and neuropathology of the plaques in multiple sclerosis.	Neuropathology and Applied Neurobiology	2014
24722397	Spike-threshold adaptation predicted by membrane potential dynamics in vivo.	PLoS Computational Biology	2014
25088311	Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.	Neuromuscular Disorders	2014