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 2016

Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

por Schuld, Julia, Orfanos, Zacharias, Chevessier, Frédéric, Eggers, Britta, Heil, Lorena, Uszkoreit, Julian, Unger, Andreas, Kirfel, Gregor, van der Ven, Peter F. M., Marcus, Katrin, Linke, Wolfgang A., Clemen, Christoph S., Schröder, Rolf, Fürst, Dieter O.
Publicado 2020

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 2014

Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients

por Molenaar, Joery P, Verhoeven, Jamie I, Rodenburg, Richard J, Kamsteeg, Erik J, Erasmus, Corrie E, Vicart, Savine, Behin, Anthony, Bassez, Guillaume, Magot, Armelle, Péréon, Yann, Brandom, Barbara W, Guglielmi, Valeria, Vattemi, Gaetano, Chevessier, Frédéric, Mathieu, Jean, Franques, Jérôme, Suetterlin, Karen, Hanna, Michael G, Guyant-Marechal, Lucie, Snoeck, Marc M, Roberts, Mark E, Kuntzer, Thierry, Fernandez-Torron, Roberto, Martínez-Arroyo, Amaia, Seeger, Juergen, Kusters, Benno, Treves, Susan, van Engelen, Baziel G, Eymard, Bruno, Voermans, Nicol C, Sternberg, Damien
Publicado 2020