Skeletal muscle sodium channelopathies
Sophie Nicole
,
Bertrand Fontaine
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hal-01289182v1
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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison
Gildas Loussouarn
,
Damien Sternberg
,
Sophie Nicole
,
Céline Marionneau
,
Francoise Le Bouffant
,
et al.
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hal-01270688v1
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Deciphering pathogenic mechanisms underlying human calcium channelopathies
Philippe Lory
,
Jean Chemin
,
Arnaud Monteil
,
Nathalie C. Guérineau
,
Sophie Nicole
,
et al.
Congrès de la Société Française de Physiologie , Jun 2019, Montpellier, France
Communication dans un congrès
hal-03020963v1
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Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy
Stéphanie Bauché
,
Geoffroy Vellieux
,
Damien Sternberg
,
Marie-Joséphine Fontenille
,
Elodie de Bruyckere
,
et al.
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hal-01653176v1
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A recessive Na v 1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis
Karima Habbout
,
Hugo Poulin
,
Francois Rivier
,
Serena Giuliano
,
Damien Sternberg
,
et al.
Article dans une revue
hal-01817830v1
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Advances in the understanding of skeletal muscle weakness in murine models of diseases affecting nerve-evoked muscle activity, motor neurons, synapses and myofibers
Arnaud Ferry
,
Pierre Joanne
,
Wahiba Hadj-Said
,
Alban Vignaud
,
Alain Lilienbaum
,
et al.
Article dans une revue
hal-01545452v1
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Effect of locomotor training on muscle performance in the context of nerve-muscle communication dysfunction
Wahiba Hadj-Said
,
Marie Bangratz
,
Alban Vignaud
,
Arnaud Chatonnet
,
Gillian Butler-Browne
,
et al.
Article dans une revue
istex
hal-01545457v1
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Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle
Sophie Nicole
,
Bénédicte Desforges
,
Gaelle Millet
,
Jeanne Lesbordes
,
Carmen Cifuentes-Diaz
,
et al.
Article dans une revue
hal-02289336v1
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Generation of a mouse model for Schwartz-Jampel syndrome
Morgane Stum
,
Emmanuelle Girard
,
Jordi Molgó
,
Nacira Tabti
,
Jean-Claude Willer
,
et al.
Conferences en Neurobiologie Ladislav Tauc - The World of the Synapse: Molecular Basis, Pathologies and Drug Discovery , Dec 2004, Gif sur Yvette, France. pp.275
Communication dans un congrès
hal-00291781v1
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New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases
Sophie Nicole
,
Philippe Lory
Article dans une revue
hal-03406031v1
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Mutations in GFPT1-related congenital myasthenic syndromes underlie a tubular aggregates myopathy with synaptopathy
Stéphanie Bauché
,
Geoffroy Vellieux
,
Damien Sternberg
,
Michel Fardeau
,
Emmanuelle Lacène
,
et al.
international congress of neuromuscular diseases , Jul 2018, Vienna (Austria), Austria
Poster de conférence
hal-03994257v1
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Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions
Sophie Nicole
,
Yoshiteru Azuma
,
Stéphanie Bauché
,
Bruno Eymard
,
Hanns Lochmuller
,
et al.
Article dans une revue
hal-01653365v1
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Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.
Morgane Stum
,
Emmanuelle Girard
,
Marie Bangratz
,
Véronique Bernard
,
Marc Herbin
,
et al.
Article dans une revue
hal-00335149v1
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Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients
Gaelle Bruneteau
,
Stéphanie Bauché
,
Jose-Luis Gonzalez de Aguilar
,
Guy Brochier
,
Nathalie Mandjee
,
et al.
Annals of Clinical and Translational Neurology , 2015, 2 (4), pp.362-372.
⟨10.1002/acn3.179⟩
Article dans une revue
hal-01118997v1
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Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood.
Anne Roubergue
,
Bertrand Philibert
,
Agnès Gautier
,
Alice Kuster
,
Karine Markowicz
,
et al.
Article dans une revue
hal-02639884v1
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The 20th Ion Channel Meeting September 2009, France
Sophie Nicole
,
Jean-Luc Morel
,
Sébastien Roger
,
Anne-Aliénor Véry
,
Hélène Vacher
,
et al.
Article dans une revue
hal-02665474v1
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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.
Marie Bangratz
,
Nadège Sarrazin
,
Jérôme Devaux
,
Désirée Zambroni
,
Andoni Echaniz-Laguna
,
et al.
Article dans une revue
hal-00701186v1
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Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
Eleni Panagiotakaki
,
Francesco Tiziano
,
Mohamad Mikati
,
Lisanne Vijfhuizen
,
Sophie Nicole
,
et al.
Article dans une revue
hal-04382771v1
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Movement disorders in patients with alternating hemiplegia
Eleni Panagiotakaki
,
Diane Doummar
,
Erika Nogué
,
Nicolas Nagot
,
Gaetan Lesca
,
et al.
Article dans une revue
hal-02533319v1
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A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs
Yosuke Kokunai
,
Carine Dalle
,
Savine Vicart
,
Damien Sternberg
,
Valérie Pouliot
,
et al.
Article dans une revue
hal-01922467v1
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Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses
Hugo Poulin
,
Pascal Gosselin-Badaroudine
,
Savine Vicart
,
Karima Habbout
,
Damien Sternberg
,
et al.
Article dans une revue
hal-01717643v1
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Neuronal Cav3 channelopathies: recent progress and perspectives
Philippe Lory
,
Sophie Nicole
,
Arnaud Monteil
Article dans une revue
hal-02893632v1
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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
Stéphanie Bauché
,
Seana O’regan
,
Yoshiteru Azuma
,
Fanny Laffargue
,
Grace Mcmacken
,
et al.
Article dans une revue
hal-01680226v1
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