Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy von Böhm, Johann, Chevessier, Frédéric, De Paula, André Maues, Koch, Catherine, Attarian, Shahram, Feger, Claire, Hantaï, Daniel, Laforêt, Pascal, Ghorab, Karima, Vallat, Jean-Michel, Fardeau, Michel, Figarella-Branger, Dominique, Pouget, Jean, Romero, Norma B., Koch, Marc, Ebel, Claudine, Levy, Nicolas, Krahn, Martin, Eymard, Bruno, Bartoli, Marc, Laporte, Jocelyn

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Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression von BRUNETEAU, Gaëlle, SIMONET, Thomas, HELL-REMY, Caroline, SALACHAS, François, PRADAT, Pierre-François, FOURNIER, Emmanuel, LACOMBLEZ, Lucette, KOENIG, Jeanine, ROMERO, Norma Beatriz, FONTAINE, Bertrand, MEININGER, Vincent, SCHAEFFER, Laurent, BAUCHE, Stéphanie, HANTAÏ, Daniel, MANDJEE, Nathalie, MALFATTI, Edoardo, GIRARD, Emmanuelle, TANGUY, Marie-Laure, BEHIN, Anthony, KHIAMI, Frédéric, SARIALI, Elhadi

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

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Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy von Méjat, Alexandre, Decostre, Valérie, Li, Juan, Renou, Laure, Kesari, Akanchha, Hantaï, Daniel, Stewart, Colin L, Xiao, Xiao, Hoffman, Eric, Bonne, Gisèle, Misteli, Tom

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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

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Congenital myasthenic syndromes: an update von Hantaï, Daniel, Nicole, Sophie, Eymard, Bruno

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Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy von NICOLE, Sophie, CHAOUCH, Amina, COX, Daniel, MÜLLER, Juliane S, EVANGELISTA, Teresinha, STALBERG, Erik, LOOS, Christine, BAROIS, Annie, BROCHIER, Guy, STERNBERG, Damien, FOURNIER, Emmanuel, HANTAÏ, Daniel, TORBERGSEN, Torberg, ABICHT, Angela, DUSL, Marina, LAVAL, Steven H, GRIFFIN, Helen, EYMARD, Bruno, LOCHMÜLLER, Hanns, BAUCHE, Stéphanie, DE BRUYCKERE, Elodie, FONTENILLE, Marie-Joséphine, HORN, Morten A, VAN GHELUE, Marijke, LØSETH, Sissel, ISSOP, Yasmin

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A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia von 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

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MUSK, a new target for mutations causing congenital myasthenic syndrome von Chevessier, Frédéric, Faraut, Brice, Ravel-Chapuis, Aymeric, Richard, Pascale, Gaudon, Karen, Bauché, Stéphanie, Prioleau, Cassandra, Herbst, Ruth, Goillot, Evelyne, Ioos, Christine, Azulay, Jean-Philippe, Attarian, Shahram, Leroy, Jean-Paul, Fournier, Emmanuel, Legay, Claire, Schaeffer, Laurent, Koenig, Jeanine, Fardeau, Michel, Eymard, Bruno, Pouget, Jean, Hantaï, Daniel

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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 von Bauché, Stéphanie, Vellieux, Geoffroy, Sternberg, Damien, Fontenille, Marie-Joséphine, De Bruyckere, Elodie, Davoine, Claire-Sophie, Brochier, Guy, Messéant, Julien, Wolf, Lucie, Fardeau, Michel, Lacène, Emmanuelle, Romero, Norma, Koenig, Jeanine, Fournier, Emmanuel, Hantaï, Daniel, Streichenberger, Nathalie, Manel, Veronique, Lacour, Arnaud, Nadaj-Pakleza, Aleksandra, Sukno, Sylvie, Bouhour, Françoise, Laforêt, Pascal, Fontaine, Bertrand, Strochlic, Laure, Eymard, Bruno, Chevessier, Frédéric, Stojkovic, Tanya, Nicole, Sophie

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A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions von Chevessier, Frédéric, Girard, Emmanuelle, Molgó, Jordi, Bartling, Sönke, Koenig, Jeanine, Hantaï, Daniel, Witzemann, Veit

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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

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Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome von Bauché, Stéphanie, Boerio, Delphine, Davoine, Claire-Sophie, Bernard, Véronique, Stum, Morgane, Bureau, Cécile, Fardeau, Michel, Romero, Norma Beatriz, Fontaine, Bertrand, Koenig, Jeanine, Hantaï, Daniel, Gueguen, Antoine, Fournier, Emmanuel, Eymard, Bruno, Nicole, Sophie

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The origin of tubular aggregates in human myopathies von Chevessier, Frédéric, Bauché-Godard, Stéphanie, Leroy, Jean-Paul, Koenig, Jeanine, Paturneau-Jouas, Marion, Eymard, Bruno, Hantaï, Daniel, Verdière-Sahuqué, Martine

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Congenital myasthenic syndromes; French experience von Eymard, Bruno, Hantaï, Daniel, Fournier, Emmanuel, Nicole, Sophie, Sternberg, Damien, Richard, Pascale, Fardeau, Michel

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Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing von Gaudon, Karen, Pénisson-Besnier, Isabelle, Chabrol, Brigitte, Bouhour, Françoise, Demay, Laurence, Ben Ammar, Asma, Bauché, Stéphanie, Vial, Christophe, Nicolas, Guillaume, Eymard, Bruno, Hantaï, Daniel, Richard, Pascale

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Thrombomodulin as a New Marker of Lesion-Induced Astrogliosis: Involvement of Thrombin through the G-Protein-Coupled Protease-Activated Receptor-1 von Pindon, Armelle, Berry, Martin, Hantai, Daniel

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186th ENMC International Workshop: Congenital myasthenic syndromes 24–26 June 2011, Naarden, The Netherlands von Chaouch, Amina, Beeson, David, Hantaï, Daniel, Lochmüller, Hanns

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A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome von Richard, Pascale, Gaudon, Karen, Fournier, Emmanuel, Jackson, Christopher, Bauché, Stéphanie, Haddad, Hafedh, Koenig, Jeanine, Echenne, Bernard, Hantaï, Daniel, Eymard, Bruno

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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

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