Clinical exome sequencing: results from 2819 samples reflecting 1000 families von Trujillano, Daniel, Bertoli-Avella, Aida M, Kumar Kandaswamy, Krishna, Weiss, Maximilian Er, Köster, Julia, Marais, Anett, Paknia, Omid, Schröder, Rolf, Garcia-Aznar, Jose Maria, Werber, Martin, Brandau, Oliver, Calvo Del Castillo, Maria, Baldi, Caterina, Wessel, Karen, Kishore, Shivendra, Nahavandi, Nahid, Eyaid, Wafaa, Al Rifai, Muhammad Talal, Al-Rumayyan, Ahmed, Al-Twaijri, Waleed, Alothaim, Ali, Alhashem, Amal, Al-Sannaa, Nouriya, Al-Balwi, Mohammed, Alfadhel, Majid, Rolfs, Arndt, Abou Jamra, Rami

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

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Prognostic impact of early ST-segment resolution in acute ST-elevation myocardial infarction von Schröder, Rolf

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Neuronal VCP loss of function recapitulates FTLD-TDP pathology von Wani, Abubakar, Zhu, Jiang, Ulrich, Jason D., Eteleeb, Abdallah, Sauerbeck, Andrew D., Reitz, Sydney J., Arhzaouy, Khalid, Ikenaga, Chiseko, Yuede, Carla M., Pittman, Sara K., Wang, Feng, Li, Shan, Benitez, Bruno A., Cruchaga, Carlos, Kummer, Terrance T., Harari, Oscar, Chou, Tsui-Fen, Schröder, Rolf, Clemen, Christoph S., Weihl, Conrad C.

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

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

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Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function von Unger, Andreas, Beckendorf, Lisa, Böhme, Pierre, Kley, Rudolf, von Frieling-Salewsky, Marion, Lochmüller, Hanns, Schröder, Rolf, Fürst, Dieter O, Vorgerd, Matthias, Linke, Wolfgang A

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Desminopathies: pathology and mechanisms von Clemen, Christoph S., Herrmann, Harald, Strelkov, Sergei V., Schröder, Rolf

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Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice von Durmuş, Hacer, Ayhan, Özgecan, Çrak, Sebahattin, Deymeer, Feza, Parman, Yeşim, Franke, Andre, Eiber, Nane, Chevessier, Frederic, Schlötzer-Schrehardt, Ursula, Clemen, Christoph S, Hashemolhosseini, Said, Schröder, Rolf, Hemmrich-Stanisak, Georg, Tolun, Aslhan, Serdaroğlu-Oflazer, Piraye

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N471D WASH complex subunit strumpellin knock‐in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue von Clemen, Christoph S., Schmidt, Andreas, Winter, Lilli, Canneva, Fabio, Wittig, Ilka, Becker, Lore, Coras, Roland, Berwanger, Carolin, Hofmann, Andreas, Eggers, Britta, Marcus, Katrin, Gailus‐Durner, Valerie, Fuchs, Helmut, Angelis, Martin Hrabe, Krüger, Marcus, Hörsten, Stephan, Eichinger, Ludwig, Schröder, Rolf

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New aspects of myofibrillar myopathies von Kley, Rudolf A, Olivé, Montse, Schröder, Rolf

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Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle von Winter, Lilli, Staszewska, Ilona, Mihailovska, Eva, Fischer, Irmgard, Goldmann, Wolfgang H, Schröder, Rolf, Wiche, Gerhard

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Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly von Salmikangas, Paula, van der Ven, Peter F.M., Lalowski, Maciej, Taivainen, Anu, Zhao, Fang, Suila, Heli, Schröder, Rolf, Lappalainen, Pekka, Fürst, Dieter O., Carpén, Olli

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Myofibrillar Myopathies: A Clinical and Myopathological Guide von Schröder, Rolf, Schoser, Benedikt

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Protein aggregate myopathies: the many faces of an expanding disease group von Schroder, Rolf

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Lack of Desmin in Mice Causes Structural and Functional Disorders of Neuromuscular Junctions von Eiber, Nane, Frob, Franziska, Schowalter, Mirjam, Thiel, Christian, Clemen, Christoph S., Schroder, Rolf, Hashemolhosseini, Said

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On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria von Schröder, Rolf, Goudeau, Bertrand, Simon, Monique Casteras, Fischer, Dirk, Eggermann, Thomas, Clemen, Christoph S., Li, Zhenlin, Reimann, Jens, Xue, Zhigang, Rudnik-Schöneborn, Sabine, Zerres, Klaus, van der Ven, Peter F. M., Fürst, Dieter O., Kunz, Wolfram S., Vicart, Patrick

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Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected von De Ridder, Willem, Azmi, Abdelkrim, Clemen, Christoph S., Eichinger, Ludwig, Hofmann, Andreas, Schröder, Rolf, Johnson, Katherine, Töpf, Ana, Straub, Volker, De Jonghe, Peter, Maudsley, Stuart, De Bleecker, Jan L., Baets, Jonathan

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Advanced Fiber Type-Specific Protein Profiles Derived from Adult Murine Skeletal Muscle von Eggers, Britta, Schork, Karin, Turewicz, Michael, Barkovits, Katalin, Eisenacher, Martin, Schröder, Rolf, Clemen, Christoph S., Marcus, Katrin

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Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms von Konieczny, Patryk, Fuchs, Peter, Reipert, Siegfried, Kunz, Wolfram S, Zeöld, Anikó, Fischer, Irmgard, Paulin, Denise, Schröder, Rolf, Wiche, Gerhard

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