About: Bertrand Fontaine

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Bertrand Fontaine Goto Sponge NotDistinct Permalink

An Entity of Type : foaf:Person, within Data Space : data.idref.fr associated with source document(s)

Attributes	Values
type	Person
sameAs	Fontaine, Bertrand (19..-.... ; neuro-myologue) Fontaine, Bertrand (19..-.... ; neuro-myologue) Fontaine, Bertrand (19..-.... ; neuro-myologue) Fontaine, Bertrand (19..-.... ; neuro-myologue) Fontaine, Bertrand (19..-.... ; neuro-myologue)
bnf-onto:FRBNF	13532612(xsd:integer)
preferred label	Fontaine, Bertrand (19..-.... ; neuro-myologue)
name	Bertrand Fontaine
dbpedia-owl:citizenship	http://sws.geonames.org/3017382/
Language	http://lexvo.org/id/iso639-3/fra
isni:identifierValid	0000000010090186
Given name	Bertrand
familyName	Fontaine
has biographical i...tion (Deprecated)	Directeur de thèse à l'Université Pierre et Marie Curie - Paris 6 en 2009 et 2013 PU-PH. Professeur de médecine à Sorbonne Université, Directeur du Centre de Recherche en Myologie (UMRS974 - Sorbonne Université/INSERM), Chef du service de Neuro-Myologie et Directeur Médical et Scientifique de l’Institut de Myologie, Hôpital de la Pitié Salpêtrière, Paris (en 2024)
ORCID iD	0000-0003-4449-8683
Scopus ID	57204265353
is sameAs of	Fontaine, Bertrand (19..-.... ; neuro-myologue) Fontaine, Bertrand (19..-.... ; neuro-myologue) Fontaine, Bertrand (19..-.... ; neuro-myologue)
is Thesis advisor of	http://www.sudoc.fr/059979372/id http://www.sudoc.fr/143022067/id http://www.sudoc.fr/041967208/id http://www.sudoc.fr/070115370/id http://www.sudoc.fr/059958871/id Génétique de la sclérose en plaques, héritabilité manquante et charge génétique http://www.sudoc.fr/041962079/id http://www.sudoc.fr/17752281X/id http://www.sudoc.fr/041877780/id L'aide informelle apportée aux personnes jeunes atteintes de handicap neurologique, analyse économique de quatre modèles neuro-pathologiques http://www.sudoc.fr/079014720/id http://www.sudoc.fr/090168844/id http://www.sudoc.fr/041927532/id http://www.sudoc.fr/06098953X/id http://www.sudoc.fr/049563645/id VERS L'IDENTIFICATION DU GENE RESPONSABLE DU SYNDROME DE SCHWARTZ-JAMPEL DE TYPE 1, CARTOGRAPHIES GENETIQUES, PHYSIQUE ET ETUDE DE GENES CANDIDATS MALADIES MUSCULAIRES DES CANAUX IONIQUES SENSIBLES AU VOLTAGE http://www.sudoc.fr/246744871/id Physiopathologie moléculaire de canalopathies sodiques du muscle squelettique, conséquences biophysiques des mutations R1132Q et Q270K responsables respectivement de paralysie périodique hypokaliémique et de paramyotonie congénitale http://www.sudoc.fr/253882567/id http://www.sudoc.fr/247160644/id http://www.sudoc.fr/246561335/id Les facteurs de croissance des oligodendrocytes dans la sclérose en plaques, analyse génétique et vectorisation cellulaire http://www.sudoc.fr/246433574/id FGF2 et myelinisation, vers une stratégie de thérapie génique ex vivo des maladies demyelinisantes Génétique de la sclérose en plaques, criblage anonyme du génome et gènes candidats http://www.sudoc.fr/246553154/id http://www.sudoc.fr/246832452/id Neuropathies héréditaires par anomalie de la transthyrétine et des protéines myéliniques PMP22, P0 et de l'Egr2, épidémiologie génétique et corrélations phénotype-génotype http://www.sudoc.fr/24804849X/id
is Praeses of	http://www.sudoc.fr/203217756/id http://www.sudoc.fr/189706392/id http://www.sudoc.fr/250721635/id http://www.sudoc.fr/275054438/id
is Author of	http://www.sudoc.fr/049888560/id http://www.sudoc.fr/043433812/id http://www.sudoc.fr/043898858/id The wide spectrum of COVID-19 neuropsychiatric complications within a multidisciplinary centre The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. http://www.sudoc.fr/245824677/id Atypical course of neuropathic Gaucher's disease: follow up from early infancy until adulthood Cold extends electromyography distinction between ion channel mutations causing myotonia. Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis A mouse model of schwartz-jampel syndrome reveals myelinating schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking. Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval https://hal.archives-ouvertes.fr/ensl-00960910#id New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes Cytokines in genetic susceptibility to multiple sclerosis: a candidate gene approach Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression The cell polarity protein Vangl2 in the muscle shapes the neuromuscular synapse by binding to and regulating the tyrosine kinase MuSK Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder. Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine Observatoire Français de la Sclérose en Plaques (OFSEP): A unique multimodal nationwide MS registry in France Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea Guidelines on clinical presentation and management of nondystrophic myotonias https://hal.archives-ouvertes.fr/hal-03993840#id P2X7-deficiency improves plasticity and cognitive abilities in a mouse model of Tauopathy Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy https://serval.unil.ch/notice/serval:BIB_33142#id Skeletal muscle sodium channelopathies Novel UBQLN2 mutations linked to Amyotrophic Lateral Sclerosis and atypical Hereditary Spastic Paraplegia phenotype through defective HSP70-mediated proteolysis A recessive Na v 1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis COMT Val158Met Polymorphism Modulates Huntington's Disease Progression A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk Unravelling the pathophysiology of calcium channel mutations causing neurological disorders Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia PADI4 Gene in Multiple Sclerosis: A Family-Based Association Study Introducing the online version of the gene table for neuromuscular disease (nuclear genes only) New role of P2X7 receptor in an Alzheimer's disease mouse model Improved cardiac outcomes by early treatment with angiotensin-converting enzyme inhibitors in Becker muscular dystrophy https://hal.archives-ouvertes.fr/hal-03464428#id https://orbi.uliege.be/handle/2268/268472#id EXPRESSION DU RECEPTEUR NICOTINIQUE DE L'ACETYLCHOLINE LORS DE LA MYOGENESE ET DE LA FORMATION DES JONCTIONS NEUROMUSCULAIRES, EFFETS DU CGRP, HYBRIDATION IN SITU Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Faceted Search & Find service v1.13.91 as of Aug 16 2018

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3229 as of May 14 2019, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (70 GB total memory)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software