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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Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations von Wargon, I, Richard, P, Kuntzer, T, Sternberg, D, Nafissi, S, Gaudon, K, Lebail, A, Bauche, S, Hantaï, D, Fournier, E, Eymard, B, Stojkovic, T

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G.P.44 von Eymard, B, Ghorab, K, Laforet, P, Chevessier, F, Vallat, J, Hantai, D, Romero, N, Böhm, J, Laporte, J

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Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7 von Ben Ammar, A., Petit, F., Alexandri, N., Gaudon, K., Bauché, S., Rouche, A., Gras, D., Fournier, E., Koenig, J., Stojkovic, T., Lacour, A., Petiot, P., Zagnoli, F., Viollet, L., Pellegrini, N., Orlikowski, D., Lazaro, L., Ferrer, X., Stoltenburg, G., Paturneau-Jouas, M., Hentati, F., Fardeau, M., Sternberg, D., Hantaï, D., Richard, P., Eymard, B.

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Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience von Eymard, B, Stojkovic, T, Sternberg, D, Richard, P, Nicole, S, Fournier, E, Béhin, A, Laforêt, P, Servais, L, Romero, N, Fardeau, M, Hantaï, D

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

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Novel   subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome von Outteryck, O, Richard, P, Lacour, A, Fournier, E, Zephir, H, Gaudon, K, Eymard, B, Hantai, D, Vermersch, P, Stojkovic, T

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G.P.11.10 Partial genomic deletions of RAPSN account for 15% of congenital myasthenic syndrome after negative DNA sequencing von Richard, P, Gaudon, K, Pénisson-Besnier, I, Chabrol, B, Bouhour, F, Vial, C, Ammar, A. Ben, Bauché, S, Eymard, B, Hantai, D

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Novel ϵ subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome von Outteryck, O, Richard, P, Lacour, A, Fournier, E, Zéphir, H, Gaudon, K, Eymard, B, Hantaï, D, Vermersch, P, Stojkovic, T

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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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The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa von RICHARD, P, GAUDON, K, HAMRI, A, NOUIOUA, S, TAZIR, M, MAYER, M, DESNUELLE, C, BAROIS, A, CHABROL, B, POUGET, J, KOENIG, J, GOUIDER-KHOUJA, N, HADDAD, H, HENTATI, F, EYMARD, B, HANTAÏ, D, BEN AMMAR, A, GENIN, E, BAUCHE, S, PATURNEAU-JOUAS, M, MÜLLER, J. S, LOCHMÜLLER, H, GRID, D

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Tubular aggregates are from whole sarcoplasmic reticulum origin: alterations in calcium binding protein expression in mouse skeletal muscle during aging von Chevessier, F, Marty, I, Paturneau-Jouas, M, Hantaı̈, D, Verdière-Sahuqué, M

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Developmental Regulation of Amyloid Precursor Protein at the Neuromuscular Junction in Mouse Skeletal Muscle von Akaaboune, Mohammed, Allinquant, Bernadette, Farza, Hend, Roy, Karine, Magoul, Rabia, Fiszman, Marc, Festoff, Barry W., Hantaı̈, Daniel

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Syndromes myasthéniques congénitaux : difficultés diagnostiques, évolution et pronostic, thérapeutique L’expérience du réseau national « Syndromes Myasthéniques Congénitaux... von Eymard, B., Stojkovic, T., Sternberg, D., Richard, P., Nicole, S., Fournier, E., Béhin, A., Laforêt, P., Servais, L., Romero, N., Fardeau, M., Hantaï, D.

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Thrombin Receptor Induction by Injury-Related Factors in Human Skeletal Muscle Cells von Mbebi, Corinne, Rohn, Troy, Doyennette, Marie-Agnès, Chevessier, Frédéric, Jandrot-Perrus, Martine, Hantaı̈, Daniel, Verdière-Sahuqué, Martine

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G.P.44: Clinical features of eight French patients with STIM 1 gene mutations von Eymard, B., Ghorab, K., Laforet, P., Chevessier, F., Vallat, J., Hantai, D., Romero, N., Böhm, J., Laporte, J.

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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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Experimental and pathological changes of the neuromuscular junction von Koenig, J, Bauché, S, Ben Ammar, A, Nicolle, D, Rigoard, P, Eymard, B, Hantaï, D

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Thrombin‐induced reversal of astrocyte stellation is mediated by activation of protein kinase C β‐1 von Pindon, Armelle, Festoff, Barry W., Hantaï, Daniel

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Structural and molecular organization, development and maturation of the neuromuscular junction von Rigoard, P, Buffenoir, K, Bauche, S, Giot, J-P, Koenig, J, Hantaï, D, Lapierre, F, Wager, M

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