Neuromuscular imaging in inherited muscle diseases

por Wattjes, Mike P., Kley, Rudolf A., Fischer, Dirk
Publicado 2010

Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replaceme...

por Gruhn, Kai Michael, Heyer, Christoph Malte, Güttsches, Anne-Katrin, Rehmann, Robert, Nicolas, Volkmar, Schmidt-Wilcke, Tobias, Tegenthoff, Martin, Vorgerd, Matthias, Kley, Rudolf Andre
Publicado 2015

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

por Unger, Andreas, Beckendorf, Lisa, Böhme, Pierre, Kley, Rudolf, von Frieling-Salewsky, Marion, Lochmüller, Hanns, Schröder, Rolf, Fürst, Dieter O., Vorgerd, Matthias, Linke, Wolfgang A.
Publicado 2017

A metastable subproteome underlies inclusion formation in muscle proteinopathies

por Ciryam, Prajwal, Antalek, Matthew, Cid, Fernando, Tartaglia, Gian Gaetano, Dobson, Christopher M., Guettsches, Anne-Katrin, Eggers, Britta, Vorgerd, Matthias, Marcus, Katrin, Kley, Rudolf A., Morimoto, Richard I., Vendruscolo, Michele, Weihl, Conrad C.
Publicado 2019

Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling

por Eulitz, Stefan, Sauer, Florian, Pelissier, Marie-Cecile, Boisguerin, Prisca, Molt, Sibylle, Schuld, Julia, Orfanos, Zacharias, Kley, Rudolf A., Volkmer, Rudolf, Wilmanns, Matthias, Kirfel, Gregor, van der Ven, Peter F. M., Fürst, Dieter O.
Publicado 2013

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

Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease

por Ruggieri, Alessandra, Naumenko, Sergey, Smith, Martin A., Iannibelli, Eliana, Blasevich, Flavia, Bragato, Cinzia, Gibertini, Sara, Barton, Kirston, Vorgerd, Matthias, Marcus, Katrin, Wang, Peixiang, Maggi, Lorenzo, Mantegazza, Renato, Dowling, James J., Kley, Rudolf A., Mora, Marina, Minassian, Berge A.
Publicado 2020

FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data

por Kley, Rudolf Andre, Leber, Yvonne, Schrank, Bertold, Zhuge, Heidi, Orfanos, Zacharias, Kostan, Julius, Onipe, Adekunle, Sellung, Dominik, Güttsches, Anne Katrin, Eggers, Britta, Jacobsen, Frank, Kress, Wolfram, Marcus, Katrin, Djinovic-Carugo, Kristina, van der Ven, Peter F.M., Fürst, Dieter O., Vorgerd, Matthias
Publicado 2021

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

por Semmler, Anna-Lena, Sacconi, Sabrina, Bach, J Elisa, Liebe, Claus, Bürmann, Jan, Kley, Rudolf A, Ferbert, Andreas, Anderheiden, Roland, Van den Bergh, Peter, Martin, Jean-Jacques, De Jonghe, Peter, Neuen-Jacob, Eva, Müller, Oliver, Deschauer, Marcus, Bergmann, Markus, Schröder, J Michael, Vorgerd, Matthias, Schulz, Jörg B, Weis, Joachim, Kress, Wolfram, Claeys, Kristl G
Publicado 2014