American Journal of Human Genetics
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.
Heuser, A., Plovie, E.R., Ellinor, P.T., Grossmann, K.S., Shin, J.T., Wichter, T., Basson, C.T., Lerman, B.B., Sasse-Klaassen, S., Thierfelder, L., MacRae, C.A. and Gerull, B.
American Journal of Human Genetics 79
(6): 1081-1088.
December 2006
American Journal of Medical Genetics
Response to correspondence by Dr. Finsterer and Dr. Stoellberger: Heterogenous myopathic background of left ventricular hypertrabeculation/noncompaction.
Thierfelder, L., Sasse-Klaassen, S., Gerull, B., Jenni, R. and Oechslin, E.
American Journal of Medical Genetics 131A
: 222-223.
2 November 2004
American Journal of Medical Genetics A
Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients.
Sasse-Klaassen, S., Gerull, B., Oechslin, E., Jenni, R. and Thierfelder, L.
American Journal of Medical Genetics A 119A
(2): 162-167.
1 June 2003
American Journal of Physiology Heart and Circulatory Physiology
Titin isoform-dependent effect of calcium on passive myocardial tension.
Fujita, H., Labeit, D., Gerull, B., Labeit, S. and Granzier, H.L.
American Journal of Physiology Heart and Circulatory Physiology 287
(6): H2528-H2534.
1 January 2004
Circulation
Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15.
Sasse-Klaassen, S., Probst, S., Gerull, B., Oechslin, E., Nuernberg, P., Heuser, A., Jenni, R., Hennies, H.C. and Thierfelder, L.
Circulation 109
(22): 2720-2723.
8 June 2004
Journal of Molecular Medicine
Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.
Gerull, B., Atherton, J., Geupel, A., Sasse-Klaassen, S., Heuser, A., Frenneaux, M., McNabb, M., Granzier, H., Labeit, S. and Thierfelder, L.
Journal of Molecular Medicine 84
(6): 478-483.
June 2006
Journal of the American College of Cardiology
A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26.
Ellinor, P.T., Sasse-Klaassen, S., Probst, S., Gerull, B., Shin, J.T., Toeppel, A., Heuser, A., Michely, B., Yoerger, D.M., Song, B.S., Pilz, B., Krings, G., Coplin, B., Lange, P.E., Dec, G.W., Hennies, H.C., Thierfelder, L. and MacRae, C.A.
Journal of the American College of Cardiology 48
(1): 106-111.
4 July 2006
Nature Genetics
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C.T., McDermott, D.A., Lerman, B.B., Markowitz, S.M., Ellinor, P.T., MacRae, C.A., Peters, S., Grossmann, K.S., Drenckhahn, J., Michely, B., Sasse-Klaassen, S., Birchmeier, W., Dietz, R., Breithardt, G., Schulze-Bahr, E. and Thierfelder, L.
Nature Genetics 36
(11): 1162-1164.
November 2004
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
Gerull, B., Gramlich, M., Atherton, J., McNabb, M., Trombitas, K., Sasse-Klaassen, S., Seidman, J.G., Seidman, C., Granzier, H., Labeit, S., Frenneaux, M. and Thierfelder, L.
Nature Genetics 30
(2): 201-204.
February 2002
This list was generated on Thu Nov 21 13:41:30 2024 UTC.