Sökresultat - Ludwig Thierfelder
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Molecular Insights into Arrhythmogenic Right Ventricular Cardiomyopathy Caused by Plakophilin-2 Missense Mutations av Florian Kirchner, A. Schuetz, Leif‐Hendrik Boldt, Kristina Martens, Gunnar Dittmar, Wilhelm Haverkamp, Ludwig Thierfelder, Udo Heinemann, Brenda Gerull
Publicerad 2012Artigo -
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Sarcomere Gene Mutations in Isolated Left Ventricular Noncompaction Cardiomyopathy Do Not Predict Clinical Phenotype av Susanne Probst, Erwin Oechslin, Pia Schuler, Matthias Greutmann, Philipp Boyé, Walter Knirsch, Felix Berger, Ludwig Thierfelder, Rolf Jenni, Sabine Klaassen
Publicerad 2011Artigo -
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Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. av Calum A. MacRae, Nitin Ghaisas, Susan Kass, S. L. Donnelly, Craig T. Basson, Hugh Watkins, Ryuchiro Anan, Ludwig Thierfelder, K McGarry, Edward Rowland
Publicerad 1995Artigo -
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Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. av Ryuichiro Anan, Gottfried Greve, Ludwig Thierfelder, Hugh Watkins, William J. McKenna, Scott D. Solomon, C Vecchio, H. Shono, Shoichiro Nakao, Hiromitsu Tanaka
Publicerad 1994Artigo -
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The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5) av 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
Publicerad 2005Artigo -
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Mutant Desmocollin-2 Causes Arrhythmogenic Right Ventricular Cardiomyopathy av 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
Publicerad 2006Artigo -
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Mutations in the Genes for Cardiac Troponin T and α-Tropomyosin in Hypertrophic Cardiomyopathy av 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
Publicerad 1995Artigo -
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Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease av 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
Publicerad 2009Artigo -
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Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction av 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
Publicerad 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 av 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
Publicerad 2008Artigo -
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Mutations in the Sarcomere Gene <i>MYH7</i> in Ebstein Anomaly av 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
Publicerad 2010Artigo -
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Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy av 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
Publicerad 2004Artigo -
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Antisense‐mediated exon skipping: a therapeutic strategy for titin‐based dilated cardiomyopathy av 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
Publicerad 2015Artigo -
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Mutations in the Gene for Cardiac Myosin-Binding Protein C and Late-Onset Familial Hypertrophic Cardiomyopathy av 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
Publicerad 1998Artigo -
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RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing av 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
Publicerad 2012Artigo
Sökverktyg:
Relaterade ämnen
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