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Article

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.
Heuser, A. and Plovie, E.R. and Ellinor, P.T. and Grossmann, K.S. and Shin, J.T. and Wichter, T. and Basson, C.T. and Lerman, B.B. and Sasse-Klaassen, S. and Thierfelder, L. and MacRae, C.A. and Gerull, B.
American Journal of Human Genetics 79 (6): 1081-1088. December 2006

A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26.
Ellinor, P.T. and Sasse-Klaassen, S. and Probst, S. and Gerull, B. and Shin, J.T. and Toeppel, A. and Heuser, A. and Michely, B. and Yoerger, D.M. and Song, B.S. and Pilz, B. and Krings, G. and Coplin, B. and Lange, P.E. and Dec, G.W. and Hennies, H.C. and Thierfelder, L. and MacRae, C.A.
Journal of the American College of Cardiology 48 (1): 106-111. 4 July 2006

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.
Gerull, B. and Atherton, J. and Geupel, A. and Sasse-Klaassen, S. and Heuser, A. and Frenneaux, M. and McNabb, M. and Granzier, H. and Labeit, S. and Thierfelder, L.
Journal of Molecular Medicine 84 (6): 478-483. June 2006

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Gerull, B. and Heuser, A. and Wichter, T. and Paul, M. and Basson, C.T. and McDermott, D.A. and Lerman, B.B. and Markowitz, S.M. and Ellinor, P.T. and MacRae, C.A. and Peters, S. and Grossmann, K.S. and Drenckhahn, J. and Michely, B. and Sasse-Klaassen, S. and Birchmeier, W. and Dietz, R. and Breithardt, G. and Schulze-Bahr, E. and Thierfelder, L.
Nature Genetics 36 (11): 1162-1164. November 2004

Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15.
Sasse-Klaassen, S. and Probst, S. and Gerull, B. and Oechslin, E. and Nuernberg, P. and Heuser, A. and Jenni, R. and Hennies, H.C. and Thierfelder, L.
Circulation 109 (22): 2720-2723. 8 June 2004

Titin isoform-dependent effect of calcium on passive myocardial tension.
Fujita, H. and Labeit, D. and Gerull, B. and Labeit, S. and Granzier, H.L.
American Journal of Physiology Heart and Circulatory Physiology 287 (6): H2528-H2534. 1 January 2004

Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients.
Sasse-Klaassen, S. and Gerull, B. and Oechslin, E. and Jenni, R. and Thierfelder, L.
American Journal of Medical Genetics A 119A (2): 162-167. 1 June 2003

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
Gerull, B. and Gramlich, M. and Atherton, J. and McNabb, M. and Trombitas, K. and Sasse-Klaassen, S. and Seidman, J.G. and Seidman, C. and Granzier, H. and Labeit, S. and Frenneaux, M. and Thierfelder, L.
Nature Genetics 30 (2): 201-204. February 2002

Letter

Response to correspondence by Dr. Finsterer and Dr. Stoellberger: Heterogenous myopathic background of left ventricular hypertrabeculation/noncompaction.
Thierfelder, L. and Sasse-Klaassen, S. and Gerull, B. and Jenni, R. and Oechslin, E.
American Journal of Medical Genetics 131A : 222-223. 2 November 2004

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