Zobrazeno 1 - 10
of 560
pro vyhledávání: '"Rolf, Schröder"'
Autor:
Theresa Paulus, Natalie Young, Emily Jessop, Carolin Berwanger, Christoph Stephan Clemen, Rolf Schröder, Rafal Ploski, Christian Hagel, Yorck Hellenbroich, Andreas Moser, Iakowos Karakesisoglou
Publikováno v:
Muscles, Vol 3, Iss 1, Pp 100-109 (2024)
SYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in whom whole-e
Externí odkaz:
https://doaj.org/article/e71a6d2e4cbc420a8756d1031e1da6dd
Autor:
Carolin Berwanger, Dominic Terres, Dominik Pesta, Britta Eggers, Katrin Marcus, Ilka Wittig, Rudolf J. Wiesner, Rolf Schröder, Christoph S. Clemen
Publikováno v:
European Journal of Cell Biology, Vol 103, Iss 2, Pp 151399- (2024)
Desmin gene mutations cause myopathies and cardiomyopathies. Our previously characterised R349P desminopathy mice, which carry the ortholog of the common human desmin mutation R350P, showed marked alterations in mitochondrial morphology and function
Externí odkaz:
https://doaj.org/article/322edd1d0b5e42938e98a96645053b1d
Autor:
Julia Schuld, Zacharias Orfanos, Frédéric Chevessier, Britta Eggers, Lorena Heil, Julian Uszkoreit, Andreas Unger, Gregor Kirfel, Peter F. M. van der Ven, Katrin Marcus, Wolfgang A. Linke, Christoph S. Clemen, Rolf Schröder, Dieter O. Fürst
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-19 (2020)
Abstract Filamin C (FLNc) is mainly expressed in striated muscle cells where it localizes to Z-discs, myotendinous junctions and intercalated discs. Recent studies have revealed numerous mutations in the FLNC gene causing familial and sporadic myopat
Externí odkaz:
https://doaj.org/article/ba3e1050cbf146d9a4a94ff8ab249a1a
Autor:
Matthias Türk, Armin M. Nagel, Frank Roemer, Ursula Schlötzer-Schrehardt, Christian T. Thiel, Martin Winterholler, Rolf Schröder
Publikováno v:
BMC Musculoskeletal Disorders, Vol 20, Iss 1, Pp 1-4 (2019)
Abstract Background Camptocormia has been reported in a plethora of diseases comprising disorders of the central nervous system, the peripheral nervous system, and the neuromuscular junction as well as hereditary and acquired myopathies. In sporadic
Externí odkaz:
https://doaj.org/article/d88cb575e39a49c49a27a4e24fc8c85a
Autor:
Marina Spörrer, Ania Prochnicki, Regine C. Tölle, Alexander Nyström, Philipp R. Esser, Melanie Homberg, Ioannis Athanasiou, Eleni Zingkou, Achim Schilling, Richard Gerum, Ingo Thievessen, Lilli Winter, Leena Bruckner-Tuderman, Ben Fabry, Thomas M. Magin, Jörn Dengjel, Rolf Schröder, Dimitra Kiritsi
Publikováno v:
EBioMedicine, Vol 44, Iss , Pp 502-515 (2019)
Background: Missense mutations in keratin 5 and 14 genes cause the severe skin fragility disorder epidermolysis bullosa simplex (EBS) by collapsing of the keratin cytoskeleton into cytoplasmic protein aggregates. Despite intense efforts, no molecular
Externí odkaz:
https://doaj.org/article/47ea7f55341e4d9da82e524620743e82
Autor:
Sven Dittrich, Erika Graf, Regina Trollmann, Ulrich Neudorf, Ulrike Schara, Antje Heilmann, Maja von der Hagen, Brigitte Stiller, Janbernd Kirschner, Robert Dalla Pozza, Wolfgang Müller-Felber, Katja Weiss, Katja von Au, Markus Khalil, Reinald Motz, Christoph Korenke, Martina Lange, Ekkehard Wilichowski, Joseph Pattathu, Friedrich Ebinger, Nicola Wiechmann, Rolf Schröder, on behalf of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network Investigators list of additional local Investigators and co-workers of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Abstract Background X-linked Duchenne muscular dystrophy (DMD), the most frequent human hereditary skeletal muscle myopathy, inevitably leads to progressive dilated cardiomyopathy. We assessed the effect and safety of a combined treatment with the AC
Externí odkaz:
https://doaj.org/article/2c488c5520894228869bcc736e4817ce
Autor:
Fabian Müller, Sebastian Boeltz, Johannes Knitza, Michael Aigner, Simon Völkl, Soraya Kharboutli, Hannah Reimann, Jule Taubmann, Sascha Kretschmann, Wolf Rösler, Bernhard Manger, Jochen Wacker, Dimitrios Mougiakakos, Samir Jabari, Rolf Schröder, Michael Uder, Frank Roemer, Gerhard Krönke, Andreas Mackensen, Georg Schett
Publikováno v:
The Lancet. 401:815-818
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21cfead72aa4a07a2753b8f8a7dd1816
https://doi.org/10.1016/s0140-6736(23)00023-5
https://doi.org/10.1016/s0140-6736(23)00023-5
Autor:
Nane Eiber, Franziska Fröb, Mirjam Schowalter, Christian Thiel, Christoph S. Clemen, Rolf Schröder, Said Hashemolhosseini
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 13 (2020)
Desmin, the major intermediate filament (IF) protein in muscle cells, interlinks neighboring myofibrils and connects the whole myofibrillar apparatus to myonuclei, mitochondria, and the sarcolemma. However, desmin is also known to be enriched at post
Externí odkaz:
https://doaj.org/article/6017cf1596f149c0a79ffefa7a188735
Autor:
Florian Stöckigt, Lars Eichhorn, Thomas Beiert, Vincent Knappe, Tobias Radecke, Martin Steinmetz, Georg Nickenig, Viktoriya Peeva, Alexei P Kudin, Wolfram S Kunz, Carolin Berwanger, Lisa Kamm, Dorothea Schultheis, Ursula Schlötzer-Schrehardt, Christoph S Clemen, Rolf Schröder, Jan W Schrickel
Publikováno v:
PLoS ONE, Vol 15, Iss 3, p e0228913 (2020)
BACKGROUND:Mutations in the human desmin gene (DES) cause autosomal-dominant and -recessive cardiomyopathies, leading to heart failure, arrhythmias, and AV blocks. We analyzed the effects of vascular pressure overload in a patient-mimicking p.R349P d
Externí odkaz:
https://doaj.org/article/9b3c7dcd411b41b8b55eb9e9f2bd2763
Autor:
Andreas Unger, Lisa Beckendorf, Pierre Böhme, Rudolf Kley, Marion von Frieling-Salewsky, Hanns Lochmüller, Rolf Schröder, Dieter O. Fürst, Matthias Vorgerd, Wolfgang A. Linke
Publikováno v:
Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-14 (2017)
Abstract Summary Myopathies encompass a wide variety of acquired and hereditary disorders. The pathomechanisms include structural and functional changes affecting, e.g., myofiber metabolism and contractile properties. In this study, we observed incre
Externí odkaz:
https://doaj.org/article/3d5217375fc44a34bd739fc04713fabc