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

por Lainé, Jeanne, Skoglund, Gunnar, Fournier, Emmanuel, Tabti, Nacira
Publicado 2018

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

por Watrin, Louise, Ghawché, Frédéric, Larre, Philippe, Neau, Jean-Philippe, Mathis, Stéphane, Fournier, Emmanuel
Publicado 2016

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

por Kokunai, Yosuke, Dalle, Carine, Vicart, Savine, Sternberg, Damien, Pouliot, Valérie, Bendahhou, Said, Fournier, Emmanuel, Chahine, Mohamed, Fontaine, Bertrand, Nicole, Sophie
Publicado 2018

Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ

por Barbeau, Susie, Semprez, Fannie, Dobbertin, Alexandre, Merriadec, Laurine, Roussange, Florine, Eymard, Bruno, Sternberg, Damien, Fournier, Emmanuel, Karasoy, Hanice, Martinat, Cécile, Legay, Claire
Publicado 2023

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

por Jacquier, Arnaud, Risson, Valérie, Simonet, Thomas, Roussange, Florine, Lacoste, Nicolas, Ribault, Shams, Carras, Julien, Theuriet, Julian, Girard, Emmanuelle, Grosjean, Isabelle, Le Goff, Laure, Kröger, Stephan, Meltoranta, Julia, Bauché, Stéphanie, Sternberg, Damien, Fournier, Emmanuel, Kostera-Pruszczyk, Anna, O’Connor, Emily, Eymard, Bruno, Lochmüller, Hanns, Martinat, Cécile, Schaeffer, Laurent
Publicado 2022

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes

por 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
Publicado 2020

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

por 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
Publicado 2020

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

por 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
Publicado 2015

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

por 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
Publicado 2018

Older patients with COVID‐19 and neuropsychiatric conditions: A study of risk factors for mortality

por Nguyen‐Michel, Vi‐Huong, Houot, Marion, Delorme, Cécile, Sangaré, Aude, Gales, Ana, Frazzini, Valerio, Hanin, Aurélie, Aissani, Djamal, Trân, Thanh, Oquendo, Bruno, Ketz, Flora, Lafuente‐Lafuente, Carmelo, Oasi, Christel, Kinugawa, Kiyoka, Ouvrard, Gaëlle, Ursu, Renata, Degos, Bertrand, Rohaut, Benjamin, Demeret, Sophie, Lambrecq, Virginie, Navarro, Vincent, Fournier, Emmanuel, Corvol, Jean‐Christophe, Borden, Alaina
Publicado 2022