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Sudden cardiac death, arrhythmogenic cardiomyopathy and intercalated disc pathology due to reduced filamin C protein levels: a matter of life and death Holtzhausen, Christian; Heil, Lorena; Klingel, Karin; Fox, Henrik; Gummert, Jan; Gaertner, Anna; Schmidt, Andreas; Krueger, Marcus; Kirfel, Gregor; van der Ven, Peter F. M.; Milting, Hendrik; Clemen, Christoph S.; Schroeder, Rolf; Fuerst, Dieter O.; Tiesmeier, Jens 分享 收藏
Loss of annexin A7 leads to alterations in frequency-induced shortening of isolated murine cardiomyocytes Herr, C; Smyth, N; Ullrich, S; Yun, F; Sasse, P; Hescheler, J; Fleischmann, B; Lasek, K; Brixius, K; Schwinger, RHC; Fässler, R; Schröder, R; Noegel, AA 分享 收藏
CD19-targeted CAR T cells in refractory antisynthetase syndrome CD19-targeted CAR T细胞在难治性抗合成酶综合征中的作用 Mueller, Fabian; Boeltz, Sebastian; Knitza, Johannes; Aigner, Michael; Voelkl, Simon; Kharboutli, Soraya; Reimann, Hannah; Taubmann, Jule; Kretschmann, Sascha; Roesler, Wolf; Manger, Bernhard; Wacker, Jochen; Mougiakakos, Dimitrios; Jabari, Samir; Schroeder, Rolf; Uder, Michael; Roemer, Frank; Kroenke, Gerhard; Mackensen, Andreas; Schett, Georg 分享 收藏
The desmin mutation R349P increases contractility and fragility of stem cell-generated muscle micro-tissues Spoerrer, Marina; Kah, Delf; Gerum, Richard C.; Reischl, Barbara; Huraskin, Danyil; Dessalles, Claire A.; Schneider, Werner; Goldmann, Wolfgang H.; Herrmann, Harald; Thievessen, Ingo; Clemen, Christoph S.; Friedrich, Oliver; Hashemolhosseini, Said; Schroeder, Rolf; Fabry, Ben 分享 收藏
N471D WASH complex subunit strumpellin knock-in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue N471D WASH复合物亚基弦蛋白敲入小鼠在脑组织中显示出轻度的运动和心脏异常以及BPTF和KLHL11失调 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; de Angelis, Martin Hrabe; Kruger, Marcus; von Horsten, Stephan; Eichinger, Ludwig; Schroder, Rolf 分享 收藏
Neuronal VCP loss of function recapitulates FTLD-TDP pathology 神经元VCP功能丧失概括了ftld-tdp病理学 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; Schroder, Rolf; Clemen, Christoph S.; Weihl, Conrad C. 分享 收藏
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Making sense of missense variants in TTN-related congenital myopathies 了解TTN相关先天性肌病的错义变异 Rees, Martin; Nikoopour, Roksana; Fukuzawa, Atsushi; Kho, Ay Lin; Fernandez-Garcia, Miguel A.; Wraige, Elizabeth; Bodi, Istvan; Deshpande, Charu; Oezdemir, Oezkan; Daimagueler, Hulya-Sevcan; Pfuhl, Mark; Holt, Mark; Brandmeier, Birgit; Grover, Sarah; Fluss, Joel; Longman, Cheryl; Farrugia, Maria Elena; Matthews, Emma; Hanna, Michael; Muntoni, Francesco; Sarkozy, Anna; Phadke, Rahul; Quinlivan, Ros; Oates, Emily C.; Schroeder, Rolf; Thiel, Christian; Reimann, Jens; Voermans, Nicol; Erasmus, Corrie; Kamsteeg, Erik-Jan; Konersman, Chaminda; Grosmann, Carla; McKee, Shane; Tirupathi, Sandya; Moore, Steven A.; Wilichowski, Ekkehard; Hobbiebrunken, Elke; Dekomien, Gabriele; Richard, Isabelle; Van den Bergh, Peter; Dominguez-Gonzalez, Cristina; Cirak, Sebahattin; Ferreiro, Ana; Jungbluth, Heinz; Gautel, Mathias 分享 收藏
Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice Herrmann, Harald; Cabet, Eva; Chevalier, Nicolas R.; Moosmann, Julia; Schultheis, Dorothea; Haas, Jan; Schowalter, Mirjam; Berwanger, Carolin; Weyerer, Veronika; Agaimy, Abbas; Meder, Benjamin; Muller, Oliver J.; Katus, Hugo A.; Schlotzer-Schrehardt, Ursula; Vicart, Patrick; Ferreiro, Ana; Dittrich, Sven; Clemen, Christoph S.; Lilienbaum, Alain; Schroeder, Rolf 分享 收藏
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Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation Schuld, Julia; Orfanos, Zacharias; Chevessier, Frederic; Eggers, Britta; Heil, Lorena; Uszkoreit, Julian; Unger, Andreas; Kirfel, Gregor; van der Ven, Peter F. M.; Marcus, Katrin; Linke, Wolfgang A.; Clemen, Christoph S.; Schroeder, Rolf; Fuerst, Dieter O. 分享 收藏
Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected De Ridder, Willem; Azmi, Abdelkrim; Clemen, Christoph S.; Eichinger, Ludwig; Hofmann, Andreas; Schroeder, Rolf; Johnson, Katherine; Topf, Ana; Straub, Volker; De Jonghe, Peter; Maudsley, Stuart; De Bleecker, Jan L.; Baets, Jonathan 分享 收藏
The MyoRobot technology discloses a premature biomechanical decay of skeletal muscle fiber bundles derived from R349P desminopathy mice Haug, Michael; Meyer, Charlotte; Reischl, Barbara; Proelss, Gerhard; Vetter, Kristina; Iberl, Julian; Nuebler, Stefanie; Schuermann, Sebastian; Rupitsch, Stefan J.; Heckel, Michael; Poeschel, Thorsten; Winter, Lilli; Herrmann, Harald; Clemen, Christoph S.; Schroeder, Rolf; Friedrich, Oliver 分享 收藏
Treatment of keratinocytes with 4-phenylbutyrate in epidermolysis bullosa: Lessons for therapies in keratin disorders Spoerrer, Marina; Prochnicki, Ania; Tolle, Regine C.; Nystroem, Alexander; Esser, Philipp R.; Homberg, Melanie; Athanasiou, Ioannis; Zingkou, Eleni; Schilling, Achim; Gerum, Richard; Thievessen, Ingo; Winter, Lilli; Bruckner-Tuderman, Leena; Fabry, Ben; Magin, Thomas M.; Dengjel, Joern; Schroeder, Rolf; Kiritsi, Dimitra 分享 收藏
23Na MRI depicts early changes in ion homeostasis in skeletal muscle tissue of patients with duchenne muscular dystrophy 23Na MRI描绘了duchenne肌营养不良患者骨骼肌组织中离子稳态的早期变化 Gerhalter, Teresa; Gast, Lena, V; Marty, Benjamin; Martin, Jan; Trollmann, Regina; Schuessler, Stephanie; Roemer, Frank; Laun, Frederik B.; Uder, Michael; Schroeder, Rolf; Carlier, Pierre G.; Nagel, Armin M. 分享 收藏
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