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

por Nicole, Sophie, Azuma, Yoshiteru, Bauché, Stéphanie, Eymard, Bruno, Lochmüller, Hanns, Slater, Clarke
Publicado 2017

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome

por Masingue, Marion, Cattaneo, Olivia, Wolff, Nicolas, Buon, Céline, Sternberg, Damien, Euchparmakian, Morgane, Boex, Myriam, Behin, Anthony, Mamchaouhi, Kamel, Maisonobe, Thierry, Nougues, Marie-Christine, Isapof, Arnaud, Fontaine, Bertrand, Messéant, Julien, Eymard, Bruno, Strochlic, Laure, Bauché, Stéphanie
Publicado 2023

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

por Ben Ammar, Asma, Soltanzadeh, Payam, Bauché, Stéphanie, Richard, Pascale, Goillot, Evelyne, Herbst, Ruth, Gaudon, Karen, Huzé, Caroline, Schaeffer, Laurent, Yamanashi, Yuji, Higuchi, Osamu, Taly, Antoine, Koenig, Jeanine, Leroy, Jean-Paul, Hentati, Fayçal, Najmabadi, Hossein, Kahrizi, Kimia, Ilkhani, Manouchehr, Fardeau, Michel, Eymard, Bruno, Hantaï, Daniel
Publicado 2013

Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

por Ben Ammar, Asma, Soltanzadeh, Payam, Bauché, Stéphanie, Richard, Pascale, Goillot, Evelyne, Herbst, Ruth, Gaudon, Karen, Huzé, Caroline, Schaeffer, Laurent, Yamanashi, Yuji, Higuchi, Osamu, Taly, Antoine, Koenig, Jeanine, Leroy, Jean-Paul, Hentati, Fayçal, Najmabadi, Hossein, Kahrizi, Kimia, Ilkhani, Manouchehr, Fardeau, Michel, Eymard, Bruno, Hantaï, Daniel
Publicado 2013

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

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

C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice

por Lopez-Herdoiza, Maria-Belen, Bauché, Stephanie, Wilmet, Baptiste, Le Duigou, Caroline, Roussel, Delphine, Frah, Magali, Béal, Jonas, Devely, Gabin, Boluda, Susana, Frick, Petra, Bouteiller, Delphine, Dussaud, Sébastien, Guillabert, Pierre, Dalle, Carine, Dumont, Magali, Camuzat, Agnes, Saracino, Dario, Barbier, Mathieu, Bruneteau, Gaelle, Ravassard, Phillippe, Neumann, Manuela, Nicole, Sophie, Le Ber, Isabelle, Brice, Alexis, Latouche, Morwena
Publicado 2023

Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy

por Risson, Valérie, Mazelin, Laetitia, Roceri, Mila, Sanchez, Hervé, Moncollin, Vincent, Corneloup, Claudine, Richard-Bulteau, Hélène, Vignaud, Alban, Baas, Dominique, Defour, Aurélia, Freyssenet, Damien, Tanti, Jean-François, Le-Marchand-Brustel, Yannick, Ferrier, Bernard, Conjard-Duplany, Agnès, Romanino, Klaas, Bauché, Stéphanie, Hantaï, Daniel, Mueller, Matthias, Kozma, Sara C., Thomas, George, Rüegg, Markus A., Ferry, Arnaud, Pende, Mario, Bigard, Xavier, Koulmann, Nathalie, Schaeffer, Laurent, Gangloff, Yann-Gaël
Publicado 2009