نتائج البحث - Frédéric Chevessier

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  1. 1
    A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions

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

    منشور في 2008
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    Artigo
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  2. 2
    Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue

    Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue حسب Lilli Winter, Ilka Wittig, Viktoriya Peeva, Britta Eggers, Juliana Heidler, Frédéric Chevessier, Rudolf A. Kley, Katalin Barkovits, Valentina Strecker, Carolin Berwanger, Harald Herrmann, Katrin Marcus, Cornelia Kornblum, Wolfram S. Kunz, Rolf Schröder, Christoph S. Clemen

    منشور في 2016
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    Artigo
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  3. 3
    Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

    Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 حسب Johann Böhm, Frédéric Chevessier, Catherine Koch, Georges Arielle Pêche, Marina Mora, Lucia Morandi, Barbara Pasanisi, Isabella Moroni, Giorgio Tasca, Fabiana Fattori, Enzo Ricci, I. Pénisson-Besnier, Aleksandra Nadaj‐Pakleza, Michel Fardeau, Pushpa Raj Joshi, Marcus Deschauer, Norma B. Romero, B. Eymard, Jocelyn Laporte

    منشور في 2014
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    Artigo
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  4. 4
    Myofibrillar instability exacerbated by acute exercise in filaminopathy

    Myofibrillar instability exacerbated by acute exercise in filaminopathy حسب Frédéric Chevessier, Julia Schuld, Zacharias Orfanos, Anne-Christine Plank, Lucie Wolf, A. Maerkens, Andreas Unger, Ursula Schlötzer‐Schrehardt, Rudolf A. Kley, Stephan von Hörsten, Katrin Marcus, Wolfgang A. Linke, Matthias Vorgerd, Peter F. M. van der Ven, Dieter O. Fürst, Rolf Schröder

    منشور في 2015
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    Artigo
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  5. 5
    MUSK, a new target for mutations causing congenital myasthenic syndrome

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

    منشور في 2004
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    Artigo
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  6. 6
    Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

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

    منشور في 2013
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  7. 7
    Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

    Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function حسب Caroline Huzé, Stéphanie Bauché, Pascale Richard, Frédéric Chevessier, Evelyne Goillot, Karen Gaudon, Asma Ammar, Annie Chaboud, Isabelle Grosjean, Heba-Aude Lecuyer, Véronique Bernard, Andrée Rouche, Nektaria Alexandri, Thierry Küntzer, Michel Fardeau, Emmanuel Fournier, Andrea Brancaccio, Markus A. Rüegg, Jeanine Koenig, B. Eymard, Laurent Schaeffer, Daniel Hantaı̈

    منشور في 2009
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  8. 8
    The toxic effect of R350P mutant desmin in striated muscle of man and mouse

    The toxic effect of R350P mutant desmin in striated muscle of man and mouse حسب Christoph S. Clemen, Florian Stöckigt, Karl-Heinz Strucksberg, Frédéric Chevessier, Lilli Winter, Johanna Schütz, Ralf Bauer, José-Manuel Thorweihe, Daniela Wenzel, Ursula Schlötzer‐Schrehardt, Volker Rasche, Pavle Krsmanovic, Hugo A. Katus, Eckhard Wolf, Steffen Just, Oliver J. Müller, Oliver Friedrich, Rainer Meyer, Harald Herrmann, Jan W. Schrickel, Rolf Schröder

    منشور في 2014
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    Artigo
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  9. 9
    Therapeutic HNF4A mRNA attenuates liver fibrosis in a preclinical model

    Therapeutic HNF4A mRNA attenuates liver fibrosis in a preclinical model حسب Taihua Yang, Marion Poenisch, Rajendra Khanal, Qingluan Hu, Zhen Dai, Ruomeng Li, Guangqi Song, Qinggong Yuan, Qunyan Yao, Xizhong Shen, Richard Taubert, Bastian Engel, Elmar Jaeckel, Arndt Vogel, Christine S. Falk, Axel Schambach, Daniela Gerovska, Marcos J. Araúzo‐Bravo, Florian W. R. Vondran, Tobias Cantz, Nigel Horscroft, Asha Balakrishnan, Frédéric Chevessier, Michael Ott, Amar Deep Sharma

    منشور في 2021
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  10. 10
    Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

    Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy حسب Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, Marie‐Joséphine Fontenille, Elodie De Bruyckere, Claire-Sophie Davoine, Guy Brochier, Julien Messéant, Lucie Wolf, Michel Fardeau, Emmanuelle Lacène, Norma B. Romero, Jeanine Koenig, Emmanuel Fournier, Daniel Hantaı̈, Nathalie Streichenberger, Véronique Manel, Arnaud Lacour, Aleksandra Nadaj‐Pakleza, Sylvie Sukno, Françoise Bouhour, Pascal Laforêt, Bertrand Fontaine, Laure Strochlic, B. Eymard, Frédéric Chevessier, Tanya Stojkovic, Sophie Nicole

    منشور في 2017
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  11. 11
    Hereditary myopathy with early respiratory failure: occurrence in various populations

    Hereditary myopathy with early respiratory failure: occurrence in various populations حسب Johanna Palmio, Anni Evilä, Françoise Chapon, Giorgio Tasca, Fengqing Xiang, Björn Brådvik, B. Eymard, Andoni Echaniz‐Laguna, Jocelyn Laporte, Mikko Kärppä, I. Mahjneh, Rosaline C. M. Quinlivan, Pascal Laforêt, Maxwell S. Damian, Andrés Berardo, A.L. Taratuto, J. A. Bueri, Johanna Tommiska, Taneli Raivio, Melanie J. Tuerk, Philipp Gölitz, Frédéric Chevessier, Caroline A. Sewry, F. Norwood, Carola Hedberg, Rolf Schröder, Lars Edström, Anders Oldfors, Peter Hackman, Bjarne Udd

    منشور في 2013
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