Výsledky vyhledávání - Ludwig Thierfelder
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Molecular Insights into Arrhythmogenic Right Ventricular Cardiomyopathy Caused by Plakophilin-2 Missense Mutations Autor Florian Kirchner, A. Schuetz, Leif‐Hendrik Boldt, Kristina Martens, Gunnar Dittmar, Wilhelm Haverkamp, Ludwig Thierfelder, Udo Heinemann, Brenda Gerull
Vydáno 2012Artigo -
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Sarcomere Gene Mutations in Isolated Left Ventricular Noncompaction Cardiomyopathy Do Not Predict Clinical Phenotype Autor Susanne Probst, Erwin Oechslin, Pia Schuler, Matthias Greutmann, Philipp Boyé, Walter Knirsch, Felix Berger, Ludwig Thierfelder, Rolf Jenni, Sabine Klaassen
Vydáno 2011Artigo -
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Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. Autor Calum A. MacRae, Nitin Ghaisas, Susan Kass, S. L. Donnelly, Craig T. Basson, Hugh Watkins, Ryuchiro Anan, Ludwig Thierfelder, K McGarry, Edward Rowland
Vydáno 1995Artigo -
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Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. Autor Ryuichiro Anan, Gottfried Greve, Ludwig Thierfelder, Hugh Watkins, William J. McKenna, Scott D. Solomon, C Vecchio, H. Shono, Shoichiro Nakao, Hiromitsu Tanaka
Vydáno 1994Artigo -
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The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5) Autor Kathy Hodgkinson, Patrick S. Parfrey, Anne S. Bassett, Christine Kupprion, Jörg‐Detlef Drenckhahn, Mark Norman, Ludwig Thierfelder, Susan Stuckless, Elizabeth Dicks, William J. McKenna, Sean P. Connors
Vydáno 2005Artigo -
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Mutant Desmocollin-2 Causes Arrhythmogenic Right Ventricular Cardiomyopathy Autor Arnd Heuser, Eva Plovie, Patrick T. Ellinor, Katja S. Grossmann, Jordan T. Shin, Thomas Wichter, Craig T. Basson, Bruce B. Lerman, Sabine Klaassen, Ludwig Thierfelder, Calum A. MacRae, Brenda Gerull
Vydáno 2006Artigo -
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Mutations in the Genes for Cardiac Troponin T and α-Tropomyosin in Hypertrophic Cardiomyopathy Autor Hugh Watkins, William J. McKenna, Ludwig Thierfelder, Ho‐Jun Suk, Ryuichiro Anan, Annie O'Donoghue, Paolo Spirito, Akira Matsumori, Christine S. Moravec, Jonathan G. Seidman, Christine E. Seidman
Vydáno 1995Artigo -
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Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease Autor Michael Gramlich, Beate Michely, Christian Krohne, Arnd Heuser, Bettina Erdmann, Sabine Klaassen, Bryan D. Hudson, Manuela Magarin, Florian Kirchner, Mihail Todiraş, Henk Granzier, Siegfried Labeit, Ludwig Thierfelder, Brenda Gerull
Vydáno 2009Artigo -
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Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction Autor Sabine Klaassen, Susanne Probst, Erwin Oechslin, Brenda Gerull, Gregor Krings, Pia Schuler, Matthias Greutmann, David Hürlimann, M. Yegitbasi, Lucía Pons, Michael Gramlich, Jörg‐Detlef Drenckhahn, Arnd Heuser, Felix Berger, Rolf Jenni, Ludwig Thierfelder
Vydáno 2008Artigo -
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Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene Autor Nancy D. Merner, Kathy Hodgkinson, Annika Haywood, Sean P. Connors, Vanessa French, Jörg‐Detlef Drenckhahn, Christine Kupprion, Kalina Ramadanova, Ludwig Thierfelder, William J. McKenna, Barry Gallagher, Lynn Morris-Larkin, Anne S. Bassett, Patrick S. Parfrey, Terry‐Lynn Young
Vydáno 2008Artigo -
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Mutations in the Sarcomere Gene <i>MYH7</i> in Ebstein Anomaly Autor Alex V. Postma, Klaartje van Engelen, Judith van de Meerakker, Thahira Rahman, Susanne Probst, Marieke J.H. Baars, Ulrike Bauer, Thomas Pickardt, Silke Sperling, Felix Berger, Antoon F.M. Moorman, Barbara J.M. Mulder, Ludwig Thierfelder, Bernard Keavney, Judith Goodship, Sabine Klaassen
Vydáno 2010Artigo -
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Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy Autor Brenda Gerull, Arnd Heuser, Thomas Wichter, Matthias Paul, Craig T. Basson, Deborah A. McDermott, Bruce B. Lerman, Steve Markowitz, Patrick T. Ellinor, Calum A. MacRae, Stefan Peters, Katja S. Grossmann, Beate Michely, Sabine Klaassen, Walter Birchmeier, Rainer Dietz, Günter Breithardt, Eric Schulze‐Bahr, Ludwig Thierfelder
Vydáno 2004Artigo -
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Antisense‐mediated exon skipping: a therapeutic strategy for titin‐based dilated cardiomyopathy Autor Michael Gramlich, Luna Simona Pane, Qifeng Zhou, Zhifen Chen, Marta Murgia, Sonja Schötterl, Alexander Goedel, Katja Metzger, Thomas Brade, Elvira Immacolata Parrotta, Martin Schaller, Brenda Gerull, Ludwig Thierfelder, Annemieke Aartsma‐Rus, Siegfried Labeit, J. Atherton, Julie McGaughran, Richard P. Harvey, Daniel Sinnecker, Matthias Mann, Karl‐Ludwig Laugwitz, Meinrad Gawaz, Alessandra Moretti
Vydáno 2015Artigo -
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Mutations in the Gene for Cardiac Myosin-Binding Protein C and Late-Onset Familial Hypertrophic Cardiomyopathy Autor Hideshi Niimura, Linda L. Bachinski, Somkiat Sangwatanaroj, Hugh Watkins, Albert E. Chudley, William J. McKenna, Arni Kristinsson, Robert J. Roberts, Michael J. Sole, Barry J. Maron, Jonathan G. Seidman, Christine E. Seidman, Ludwig Thierfelder, John A. Jarcho, Aris Anastasakis, Pavlos Toutouzas, Eleanor Elstein, Choong‐Chin Liew, Jack Liew, John D. Mably, Harry Rakowski, E.Douglas Wigle, Minshun Zhao, Rosemarie Salerni, Halldóra Björnsdóttir
Vydáno 1998Artigo -
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RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing Autor Wei Guo, Sebastian Schäfer, Marion L. Greaser, Michaël Radkë, Martin Liss, Thirupugal Govindarajan, Henrike Maatz, Herbert Schulz, Shijun Li, Amanda M. Parrish, Vita Dauksaite, Padmanabhan Vakeel, Sabine Klaassen, Brenda Gerull, Ludwig Thierfelder, Vera Regitz‐Zagrosek, Timothy A. Hacker, Kurt W. Saupe, G. William Dec, Patrick T. Ellinor, Calum A. MacRae, Bastian Spallek, Robert Fischer, Andreas Perrot, Cemil Özcelik, Kathrin Saar, Norbert Hübner, Michael Gotthardt
Vydáno 2012Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Medicine
Cardiomyopathy
Heart failure
Internal medicine
Mutation
Cardiology
Hypertrophic cardiomyopathy
Gene mutation
Myocyte
Sarcomere
Gene isoform
Missense mutation
Phenotype
Locus (genetics)
MYH7
Proband
Sudden cardiac death
Arrhythmogenic right ventricular dysplasia
Catenin
Cell
Cell biology
Desmoplakin
Desmosome
Dilated cardiomyopathy
Exon
Left ventricular noncompaction
Penetrance