Rezultaty - Frédéric Chevessier
- Rezultaty 1 - 11 Rezultaty od 11
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1
A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions od Frédéric Chevessier, Emmanuelle Girard, Jordi Molgó, Sönke Bartling, Jeanine Koenig, Daniel Hantaı̈, Veit Witzemann
Wydane 2008Artigo -
2
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue od 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
Wydane 2016Artigo -
3
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 od 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
Wydane 2014Artigo -
4
Myofibrillar instability exacerbated by acute exercise in filaminopathy od 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
Wydane 2015Artigo -
5
MUSK, a new target for mutations causing congenital myasthenic syndrome od 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
Wydane 2004Artigo -
6
Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy od 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
Wydane 2013Artigo -
7
Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function od 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
Wydane 2009Artigo -
8
The toxic effect of R350P mutant desmin in striated muscle of man and mouse od 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
Wydane 2014Artigo -
9
Therapeutic HNF4A mRNA attenuates liver fibrosis in a preclinical model od 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
Wydane 2021Artigo -
10
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy od 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
Wydane 2017Artigo -
11
Hereditary myopathy with early respiratory failure: occurrence in various populations od 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
Wydane 2013Artigo
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