Development of the excitation-contraction coupling machinery and its relation to myofibrillogenesis in human iPSC-derived skeletal myocytes

von Lainé, Jeanne, Skoglund, Gunnar, Fournier, Emmanuel, Tabti, Nacira
Veröffentlicht in Skelet Muscle (2018)

Cold-induced disruption of Na(+) channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia

von Carle, Thomas, Fournier, Emmanuel, Sternberg, Damien, Fontaine, Bertrand, Tabti, Nacira
Veröffentlicht 2009

Physiological and ultrastructural features of human induced pluripotent and embryonic stem cell-derived skeletal myocytes in vitro

von Skoglund, Gunnar, Lainé, Jeanne, Darabi, Radbod, Fournier, Emmanuel, Perlingeiro, Rita, Tabti, Nacira
Veröffentlicht 2014

Guillain–Barré Syndrome (42 Cases) Occurring During a Zika Virus Outbreak in French Polynesia

von Watrin, Louise, Ghawché, Frédéric, Larre, Philippe, Neau, Jean-Philippe, Mathis, Stéphane, Fournier, Emmanuel
Veröffentlicht in Medicine (Baltimore) (2016)

Homozygous C-terminal loss-of-function Na(V)1.4 variant in a patient with congenital myasthenic syndrome

von Echaniz-Laguna, Andoni, Biancalana, Valérie, Nadaj-Pakleza, Aleksandra, Fournier, Emmanuel, Matthews, Emma, Hanna, Michael G., Männikkö, Roope
Veröffentlicht in J Neurol Neurosurg Psychiatry (2020)

A204E mutation in Na(v)1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

von Kokunai, Yosuke, Dalle, Carine, Vicart, Savine, Sternberg, Damien, Pouliot, Valérie, Bendahhou, Said, Fournier, Emmanuel, Chahine, Mohamed, Fontaine, Bertrand, Nicole, Sophie
Veröffentlicht in Sci Rep (2018)

In vivo and in vitro functional characterization of Andersen's syndrome mutations

von Bendahhou, Saïd, Fournier, Emmanuel, Sternberg, Damien, Bassez, Guillaume, Furby, Alain, Sereni, Carole, Donaldson, Matthew R, Larroque, Marie-Madeleine, Fontaine, Bertrand, Barhanin, Jacques
Veröffentlicht 2005

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

von Huzé, Caroline, Bauché, Stéphanie, Richard, Pascale, Chevessier, Frédéric, Goillot, Evelyne, Gaudon, Karen, Ben Ammar, Asma, Chaboud, Annie, Grosjean, Isabelle, Lecuyer, Heba-Aude, Bernard, Véronique, Rouche, Andrée, Alexandri, Nektaria, Kuntzer, Thierry, Fardeau, Michel, Fournier, Emmanuel, Brancaccio, Andrea, Rüegg, Markus A., Koenig, Jeanine, Eymard, Bruno, Schaeffer, Laurent, Hantaï, Daniel
Veröffentlicht 2009

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

von Huzé, Caroline, Bauché, Stéphanie, Richard, Pascale, Chevessier, Frédéric, Goillot, Evelyne, Gaudon, Karen, Ben Ammar, Asma, Chaboud, Annie, Grosjean, Isabelle, Lecuyer, Heba-Aude, Bernard, Véronique, Rouche, Andrée, Alexandri, Nektaria, Kuntzer, Thierry, Fardeau, Michel, Fournier, Emmanuel, Brancaccio, Andrea, Rüegg, Markus A., Koenig, Jeanine, Eymard, Bruno, Schaeffer, Laurent, Hantaï, Daniel
Veröffentlicht 2009

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes

von Bauché, Stéphanie, Sureau, Alain, Sternberg, Damien, Rendu, John, Buon, Céline, Messéant, Julien, Boëx, Myriam, Furling, Denis, Fauré, Julien, Latypova, Xénia, Gelot, Antoinette Bernabe, Mayer, Michèle, Mary, Pierre, Whalen, Sandra, Fournier, Emmanuel, Cloix, Isabelle, Remerand, Ganaelle, Laffargue, Fanny, Nougues, Marie-Christine, Fontaine, Bertrand, Eymard, Bruno, Isapof, Arnaud, Strochlic, Laure
Veröffentlicht in Neurol Genet (2020)

Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study

von Annoussamy, Mélanie, Seferian, Andreea M., Daron, Aurore, Péréon, Yann, Cances, Claude, Vuillerot, Carole, De Waele, Liesbeth, Laugel, Vincent, Schara, Ulrike, Gidaro, Teresa, Lilien, Charlotte, Hogrel, Jean‐Yves, Carlier, Pierre, Fournier, Emmanuel, Lowes, Linda, Gorni, Ksenija, Ly‐Le Moal, Myriam, Hellbach, Nicole, Seabrook, Timothy, Czech, Christian, Hermosilla, Ricardo, Servais, Laurent
Veröffentlicht in Ann Clin Transl Neurol (2020)

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

von Bruneteau, Gaëlle, Bauché, Stéphanie, Gonzalez de Aguilar, Jose Luis, Brochier, Guy, Mandjee, Nathalie, Tanguy, Marie-Laure, Hussain, Ghulam, Behin, Anthony, Khiami, Frédéric, Sariali, Elhadi, Hell-Remy, Caroline, Salachas, François, Pradat, Pierre-François, Lacomblez, Lucette, Nicole, Sophie, Fontaine, Bertrand, Fardeau, Michel, Loeffler, Jean-Philippe, Meininger, Vincent, Fournier, Emmanuel, Koenig, Jeanine, Hantaï, Daniel
Veröffentlicht in Ann Clin Transl Neurol (2015)

Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study

von Chabanon, Aurélie, Seferian, Andreea Mihaela, Daron, Aurore, Péréon, Yann, Cances, Claude, Vuillerot, Carole, De Waele, Liesbeth, Cuisset, Jean-Marie, Laugel, Vincent, Schara, Ulrike, Gidaro, Teresa, Gilabert, Stéphanie, Hogrel, Jean-Yves, Baudin, Pierre-Yves, Carlier, Pierre, Fournier, Emmanuel, Lowes, Linda Pax, Hellbach, Nicole, Seabrook, Timothy, Toledano, Elie, Annoussamy, Mélanie, Servais, Laurent
Veröffentlicht in PLoS One (2018)