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	Pour les 23 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page :	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		Skeletal muscle sodium channelopathies Sophie Nicole , Bertrand Fontaine Current Opinion in Neurology, 2015, 28 (5), pp.508-514xs. ⟨10.1097/WCO.0000000000000238⟩ Article dans une revue hal-01289182v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison Gildas Loussouarn , Damien Sternberg , Sophie Nicole , Céline Marionneau , Francoise Le Bouffant , et al. Frontiers in Pharmacology, 2016, 6, pp.314. ⟨10.3389/fphar.2015.00314⟩ Article dans une revue hal-01270688v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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. Journal of Neurology, 2017, 264 (8), pp.1791-1803. ⟨10.1007/s00415-017-8569-x⟩ Article dans une revue hal-01653176v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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. Neurology, 2016, 86 (2), pp.161-169. ⟨10.1212/WNL.0000000000002264⟩ Article dans une revue hal-01817830v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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. Neuromuscular Disorders, 2014, 24 (11), pp.960-972. ⟨10.1016/j.nmd.2014.06.001⟩ Article dans une revue hal-01545452v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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. Journal of Cell Biology, 2003, 161 (3), pp.571-582. ⟨10.1083/jcb.200210117⟩ Article dans une revue hal-02289336v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases Sophie Nicole , Philippe Lory Frontiers in Pharmacology, 2021, 12, pp.751095. ⟨10.3389/fphar.2021.751095⟩ Article dans une revue hal-03406031v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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. Muscle & Nerve, 2012, 45 (4), pp.567-577. ⟨10.1002/mus.22332⟩ Article dans une revue istex hal-01545457v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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. Journal of Neuromuscular Diseases, 2017, 4 (4), pp.269-284. ⟨10.3233/JND-170257⟩ Article dans une revue hal-01653365v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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. Human Molecular Genetics, 2008, 17 (20), pp.3166-79. ⟨10.1093/hmg/ddn213⟩ Article dans une revue hal-00335149v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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. JIMD reports, 2015, 15, pp.7-12. ⟨10.1007/8904_2013_292⟩ Article dans une revue hal-02639884v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The 20th Ion Channel Meeting September 2009, France Sophie Nicole , Jean-Luc Morel , Sébastien Roger , Anne-Aliénor Véry , Hélène Vacher , et al. Channels, 2010, 4 (4), pp.329 - 333. ⟨10.4161/chan.4.4.12777⟩ Article dans une revue hal-02665474v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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. European Journal of Human Genetics, In press, 32 (2), pp.224-231. ⟨10.1038/s41431-023-01489-4⟩ Article dans une revue hal-04382771v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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. American Journal of Pathology, 2012, 180 (5), pp.2040-55. ⟨10.1016/j.ajpath.2012.01.035⟩ Article dans une revue hal-00701186v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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. Scientific Reports, 2018, 8, pp.2041. ⟨10.1038/s41598-018-20468-0⟩ Article dans une revue hal-01717643v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Neuronal Cav3 channelopathies: recent progress and perspectives Philippe Lory , Sophie Nicole , Arnaud Monteil Pflügers Archiv European Journal of Physiology, 2020, ⟨10.1007/s00424-020-02429-7⟩ Article dans une revue hal-02893632v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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. Scientific Reports, 2018, 8, pp.16681. ⟨10.1038/s41598-018-34750-8⟩ Article dans une revue hal-01922467v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Movement disorders in patients with alternating hemiplegia Eleni Panagiotakaki , Diane Doummar , Erika Nogué , Nicolas Nagot , Gaetan Lesca , et al. Neurology, 2020, 94 (13), pp.e1378-e1385. ⟨10.1212/WNL.0000000000009175⟩ Article dans une revue hal-02533319v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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. American Journal of Human Genetics, 2016, 99 (3), pp.753 - 761. ⟨10.1016/j.ajhg.2016.06.033⟩ Article dans une revue hal-01680226v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

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Skeletal muscle sodium channelopathies

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison

Deciphering pathogenic mechanisms underlying human calcium channelopathies

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

A recessive Na v 1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis

Advances in the understanding of skeletal muscle weakness in murine models of diseases affecting nerve-evoked muscle activity, motor neurons, synapses and myofibers

Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle

Generation of a mouse model for Schwartz-Jampel syndrome

New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases

Effect of locomotor training on muscle performance in the context of nerve-muscle communication dysfunction

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions

Mutations in GFPT1-related congenital myasthenic syndromes underlie a tubular aggregates myopathy with synaptopathy

Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients

Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.

Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood.

The 20th Ion Channel Meeting September 2009, France

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene

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.

Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses

Neuronal Cav3 channelopathies: recent progress and perspectives

A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

Movement disorders in patients with alternating hemiplegia

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea