Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue

Por Winter, Lilli, Wittig, Ilka, Peeva, Viktoriya, Eggers, Britta, Heidler, Juliana, Chevessier, Frederic, Kley, Rudolf A., Barkovits, Katalin, Strecker, Valentina, Berwanger, Carolin, Herrmann, Harald, Marcus, Katrin, Kornblum, Cornelia, Kunz, Wolfram S., Schröder, Rolf, Clemen, Christoph S.
Publicado no Acta Neuropathol (2016)

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

Por 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
Publicado em 2009

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

Por 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
Publicado em 2009

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Por 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
Publicado em 2013

The toxic effect of R350P mutant desmin in striated muscle of man and mouse

Por Clemen, Christoph S., Stöckigt, Florian, Strucksberg, Karl-Heinz, Chevessier, Frederic, Winter, Lilli, Schütz, Johanna, Bauer, Ralf, Thorweihe, José-Manuel, Wenzel, Daniela, Schlötzer-Schrehardt, Ursula, Rasche, Volker, Krsmanovic, Pavle, Katus, Hugo A., Rottbauer, Wolfgang, Just, Steffen, Müller, Oliver J., Friedrich, Oliver, Meyer, Rainer, Herrmann, Harald, Schrickel, Jan Wilko, Schröder, Rolf
Publicado no Acta Neuropathol (2014)