The novel αB‐crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy von Brodehl, Andreas, Gaertner‐Rommel, Anna, Klauke, Bärbel, Grewe, Simon Andre, Schirmer, Ilona, Peterschröder, Andreas, Faber, Lothar, Vorgerd, Matthias, Gummert, Jan, Anselmetti, Dario, Schulz, Uwe, Paluszkiewicz, Lech, Milting, Hendrik

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Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene? von Gaertner, Anna, Brodehl, Andreas, Milting, Hendrik

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Cardiomyopathy‐associated mutations in the RS domain affect nuclear localization of RBM20 von Gaertner, Anna, Klauke, Baerbel, Felski, Elina, Kassner, Astrid, Brodehl, Andreas, Gerdes, Désirée, Stanasiuk, Caroline, Ebbinghaus, Hans, Schulz, Uwe, Dubowy, Karl‐Otto, Tiesmeier, Jens, Laser, Kai‐Thorsten, Bante, Hendrik, Bergau, Leonard, Sommer, Philipp, Fox, Henrik, Morshuis, Michiel, Gummert, Jan, Milting, Hendrik

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Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin ( DES ) Mutation p.Y122H Leading to a Severe Filament Assembly Defect von Brodehl, Andreas, Pour Hakimi, Seyed Ahmad, Stanasiuk, Caroline, Ratnavadivel, Sandra, Hendig, Doris, Gaertner, Anna, Gerull, Brenda, Gummert, Jan, Paluszkiewicz, Lech, Milting, Hendrik

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Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern von Gaertner, Anna, Burr, Lidia, Klauke, Baerbel, Brodehl, Andreas, Laser, Kai Thorsten, Klingel, Karin, Tiesmeier, Jens, Schulz, Uwe, Knyphausen, Edzard zu, Gummert, Jan, Milting, Hendrik

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Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9 von Ratnavadivel, Sandra, Dammeier, Joline, Gaertner, Anna, de Toledo, Marcelo A. Szymanski, Zenke, Martin, Gummert, Jan, Bloch Rasmussen, Torsten, Klinke, Nora, Jürgens, Kai, Meyer, Heiko, Paululat, Achim, Milting, Hendrik

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The Desmin Mutation DES-c.735G C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3 von Brodehl, Andreas, Hain, Carsten, Flottmann, Franziska, Ratnavadivel, Sandra, Gaertner, Anna, Klauke, Baerbel, Kalinowski, Joern, Koerperich, Hermann, Gummert, Jan, Paluszkiewicz, Lech, Deutsch, Marcus-Andre, Milting, Hendrik

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A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy von Schirmer, Ilona, Dieding, Mareike, Klauke, Bärbel, Brodehl, Andreas, Gaertner‐Rommel, Anna, Walhorn, Volker, Gummert, Jan, Schulz, Uwe, Paluszkiewicz, Lech, Anselmetti, Dario, Milting, Hendrik

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RBM20 mutations in left ventricular non‐compaction cardiomyopathy von Gaertner, Anna, Klauke, Bärbel, Brodehl, Andreas, Milting, Hendrik

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Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy von Gaertner‐Rommel, Anna, Tiesmeier, Jens, Jakob, Thomas, Strickmann, Bernd, Veit, Gunter, Bachmann‐Mennenga, Bernd, Paluszkiewicz, Lech, Klingel, Karin, Schulz, Uwe, Laser, Kai T., Karger, Bernd, Pfeiffer, Heidi, Milting, Hendrik

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In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations von Gaertner, Anna, Klauke, Baerbel, Stork, Ines, Niehaus, Karsten, Niemann, Gesa, Gummert, Jan, Milting, Hendrik

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High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation von Klauke, Baerbel, Gaertner-Rommel, Anna, Schulz, Uwe, Kassner, Astrid, Zu Knyphausen, Edzard, Laser, Thorsten, Kececioglu, Deniz, Paluszkiewicz, Lech, Blanz, Ute, Sandica, Eugen, van den Bogaerdt, Antoon J, van Tintelen, J Peter, Gummert, Jan, Milting, Hendrik

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Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing von Pohl, Greta Marie, Göz, Manuel, Gaertner, Anna, Brodehl, Andreas, Cimen, Tolga, Saguner, Ardan M, Schulze-Bahr, Eric, Walhorn, Volker, Anselmetti, Dario, Milting, Hendrik

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Myocardial transcriptome analysis of human arrhythmogenic right ventricular cardiomyopathy von Gaertner, Anna, Schwientek, Patrick, Ellinghaus, Peter, Summer, Holger, Golz, Stefan, Kassner, Astrid, Schulz, Uwe, Gummert, Jan, Milting, Hendrik

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Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies von Reichart, Daniel, Lindberg, Eric L, Maatz, Henrike, Miranda, Antonio M A, Viveiros, Anissa, Shvetsov, Nikolay, Gärtner, Anna, Nadelmann, Emily R, Lee, Michael, Kanemaru, Kazumasa, Ruiz-Orera, Jorge, Strohmenger, Viktoria, DeLaughter, Daniel M, Patone, Giannino, Zhang, Hao, Woehler, Andrew, Lippert, Christoph, Kim, Yuri, Adami, Eleonora, Gorham, Joshua M, Barnett, Sam N, Brown, Kemar, Buchan, Rachel J, Chowdhury, Rasheda A, Constantinou, Chrystalla, Cranley, James, Felkin, Leanne E, Fox, Henrik, Ghauri, Ahla, Gummert, Jan, Kanda, Masatoshi, Li, Ruoyan, Mach, Lukas, McDonough, Barbara, Samari, Sara, Shahriaran, Farnoush, Yapp, Clarence, Stanasiuk, Caroline, Theotokis, Pantazis I, Theis, Fabian J, van den Bogaerdt, Antoon, Wakimoto, Hiroko, Ware, James S, Worth, Catherine L, Barton, Paul J R, Lee, Young-Ae, Teichmann, Sarah A, Milting, Hendrik, Noseda, Michela, Oudit, Gavin Y, Heinig, Matthias, Seidman, Jonathan G, Hubner, Norbert, Seidman, Christine E

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A 96-multiplex capillary electrophoresis screening platform for product based evolution of P450 BM3 von Gärtner, Anna, Ruff, Anna Joëlle, Schwaneberg, Ulrich

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Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies von Brodehl, Andreas, Ebbinghaus, Hans, Deutsch, Marcus-André, Gummert, Jan, Gärtner, Anna, Ratnavadivel, Sandra, Milting, Hendrik

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Mechanical circulatory support does not reduce advanced myocardial fibrosis in patients with end‐stage heart failure von Kassner, Astrid, Oezpeker, Cenk, Gummert, Jan, Zittermann, Armin, Gärtner, Anna, Tiesmeier, Jens, Fox, Henrik, Morshuis, Michiel, Milting, Hendrik

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Myocardial expression profiles of candidate molecules in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia compared to those with dilated cardiomyopathy and h... von Akdis, Deniz, MD, Medeiros-Domingo, Argelia, MD, Gaertner-Rommel, Anna, PhD, Kast, Jeannette I., MSc, Enseleit, Frank, MD, Bode, Peter, MD, Klingel, Karin, MD, Kandolf, Reinhard, MD, Renois, Fanny, PhD, Andreoletti, Laurent, PhD, Akdis, Cezmi A., MD, Milting, Hendrik, PhD, Lüscher, Thomas F., MD, Brunckhorst, Corinna, MD, Saguner, Ardan M., MD, Duru, Firat, MD

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Abstract 10240: Key Pathomechanisms of Cardiomyopathy Due to TTN Truncation von Fomin, Andrey, Gaertner, Anna, Cyganek, Lukas, Tiburcy, Malte, von Frieling-Salewsky, Marion, Zimmermann, Wolfram H, Milting, Hendrik, Linke, Wolfgang A

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