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2019

Dietary protein restriction throughout intrauterine and postnatal life results in potentially beneficial myocardial tissue remodeling in the adult mouse heart.
Hennig, M. and Ewering, L. and Pyschny, S. and Shimoyama, S. and Olecka, M. and Ewald, D. and Magarin, M. and Uebing, A. and Thierfelder, L. and Jux, C. and Drenckhahn, J.D.
Scientific Reports 9 (1): 15126. 22 October 2019

2018

Preserved heart function after left ventricular pressure overload in adult mice subjected to neonatal cardiac hypoplasia.
Heinecke, K. and Heuser, A. and Blaschke, F. and Jux, C. and Thierfelder, L. and Drenckhahn, J.D.
Journal of Developmental Origins of Health and Disease 9 (1): 112-124. February 2018

Oral administration of a novel lipophilic PPARδ agonist is not neuroprotective after rodent cerebral ischemia.
Knauss, S. and Endres, M. and Blaschke, F. and Hindinger, C. and Kunz, A.
Journal of Cerebral Blood Flow and Metabolism 38 (1): 174-185. 1 January 2018

2017

Prenatal mechanistic target of rapamycin complex 1 (mTORC1) inhibition by rapamycin treatment of pregnant mice causes intrauterine growth restriction and alters postnatal cardiac growth, morphology, and function.
Hennig, M. and Fiedler, S. and Jux, C. and Thierfelder, L. and Drenckhahn, J.D.
Journal of the American Heart Association 6 (8): e005506. 4 August 2017

2016

Transcriptional profiling of regenerating embryonic mouse hearts.
Magarin, M. and Schulz, H. and Thierfelder, L. and Drenckhahn, J.D.
Genomics Data 9 : 145-147. September 2016

Activation of peroxisome proliferator-activated receptor-δ as novel therapeutic strategy to prevent in-stent restenosis and stent thrombosis.
Hytönen, J. and Leppänen, O. and Braesen, J.H. and Schunck, W.H. and Mueller, D. and Jung, F. and Mrowietz, C. and Jastroch, M. and von Bergwelt-Baildon, M. and Kappert, K. and Heuser, A. and Drenckhahn, J.D. and Pieske, B. and Thierfelder, L. and Ylä-Herttuala, S. and Blaschke, F.
Arteriosclerosis Thrombosis and Vascular Biology 36 (8): 1534-1548. August 2016

Embryonic cardiomyocytes can orchestrate various cell protective mechanisms to survive mitochondrial stress.
Magarin, M. and Pohl, T. and Lill, A. and Schulz, H. and Blaschke, F. and Heuser, A. and Thierfelder, L. and Donath, S. and Drenckhahn, J.D.
Journal of Molecular and Cellular Cardiology 97 : 1-14. August 2016

2015

Impaired myocardial development resulting in neonatal cardiac hypoplasia alters postnatal growth and stress response in the heart.
Drenckhahn, J.D. and Strasen, J. and Heinecke, K. and Langner, P. and Yin, K.V. and Skole, F. and Hennig, M. and Spallek, B. and Fischer, R. and Blaschke, F. and Heuser, A. and Cox, T.C. and Black, M.J. and Thierfelder, L.
Cardiovascular Research 106 (1): 43-54. 1 April 2015

Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy.
Gramlich, M. and Pane, L.S. and Zhou, Q. and Chen, Z. and Murgia, M. and Schoetterl, S. and Goedel, A. and Metzger, K. and Brade, T. and Parrotta, E. and Schaller, M. and Gerull, B. and Thierfelder, L. and Aartsma-Rus, A. and Labeit, S. and Atherton, J.J. and McGaughran, J. and Harvey, R.P. and Sinnecker, D. and Mann, M. and Laugwitz, K.L. and Gawaz, M.P. and Moretti, A.
EMBO Molecular Medicine 7 (5): 562-576. 10 March 2015

2014

Inhibition of protein geranylgeranylation specifically interferes with CD40-dependent B cell activation, resulting in a reduced capacity to induce T cell immunity.
Shimabukuro-Vornhagen, A. and Zoghi, S. and Liebig, T.M. and Wennhold, K. and Chemitz, J. and Draube, A. and Kochanek, M. and Blaschke, F. and Pallasch, C. and Holtick, U. and Scheid, C. and Theurich, S. and Hallek, M. and von Bergwelt-Baildon, M.S.
Journal of Immunology 193 (10): 5294-5305. 15 November 2014

Titin mutation in familial restrictive cardiomyopathy.
Peled, Y. and Gramlich, M. and Yoskovitz, G. and Feinberg, M.S. and Afek, A. and Polak-Charcon, S. and Pras, E. and Sela, B.A. and Konen, E. and Weissbrod, O. and Geiger, D. and Gordon, P.M.K. and Thierfelder, L. and Freimark, D. and Gerull, B. and Arad, M.
International Journal of Cardiology 171 (1): 24-30. 15 January 2014

2013

Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.
Gerull, B. and Kirchner, F. and Chong, J.X. and Tagoe, J. and Chandrasekharan, K. and Strohm, O. and Waggoner, D. and Ober, C. and Duff, H.J.
Circulation Cardiovascular Genetics 6 (4): 327-336. August 2013

2012

Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.
Kirchner, F. and Schuetz, A. and Boldt, L.H. and Martens, K. and Dittmar, G. and Haverkamp, W. and Thierfelder, L. and Heinemann, U. and Gerull, B.
Circulation Cardiovascular Genetics 5 (4): 400-411. 1 August 2012

Novel c.367_369del LMNA mutation manifesting as severe arrhythmias, dilated cardiomyopathy, and myopathy.
Keller, H. and Finsterer, J. and Steger, C. and Wexberg, P. and Gatterer, E. and Khazen, C. and Stix, G. and Gerull, B. and Hoeftberger, R. and Weidinger, F.
Heart & Lung 41 (4): 382-386. July 2012

A novel titin mutation in adult-onset familial dilated cardiomyopathy.
Yoskovitz, G. and Peled, Y. and Gramlich, M. and Lahat, H. and Resnik-Wolf, H. and Feinberg, M.S. and Afek, A. and Pras, E. and Arad, M. and Gerull, B. and Freimark, D.
American Journal of Cardiology 109 (11): 1644-1650. 1 June 2012

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
Guo, W. and Schafer, S. and Greaser, M.L. and Radke, M.H. and Liss, M. and Govindarajan, T. and Maatz, H. and Schulz, H. and Lincoln, S.E. and Parrish, A.M. and Dauksaite, V. and Vakeel, P. and Klaassen, S. and Gerull, B. and Thierfelder, L. and Regitz-Zagrosek, V. and Hacker, T.A. and Saupe, K.W. and Dec, G.W. and Ellinor, P.T. and MacRae, C.A. and Spallek, B. and Fischer, R. and Perrot, A. and Ozcelik, C. and Saar, K. and Hubner, N. and Gotthardt, M.
Nature Medicine 18 (5): 766-773. May 2012

2011

Heart development: mitochondria in command of cardiomyocyte differentiation.
Drenckhahn, J.D.
Developmental Cell 21 (3): 392-393. 13 September 2011

Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.
Probst, S. and Oechslin, E. and Schuler, P. and Greutmann, M. and Boye, P. and Knirsch, W. and Berger, F. and Thierfelder, L. and Jenni, R. and Klaassen, S.
Circulation Cardiovascular Genetics 4 (4): 367-374. 1 August 2011

Mutations in the sarcomere protein gene MYH7 in Ebstein's anomaly.
Postma, A.V. and van Engelen, K. and van de Meerakker, J. and Rahman, T. and Probst, S. and Baars, M.J. and Bauer, U. and Pickardt, T. and Sperling, S.R. and Berger, F. and Moorman, A.F. and Mulder, B.J. and Thierfelder, L. and Keavney, B. and Goodship, J. and Klaassen, S.
Circulation Cardiovascular Genetics 4 (1): 43-50. February 2011

2010

Assessment of the effect of external counterpulsation on myocardial adaptive arteriogenesis by invasive functional measurements--design of the arteriogenesis network trial 2.
Pagonas, N. and Utz, W. and Schulz-Menger, J. and Busjahn, A. and Monti, J. and Thierfelder, L. and Dietz, R. and Klauss, V. and Gross, M. and Buschmann, I.R. and Buschmann, E.E.
International Journal of Cardiology 145 (3): 432-437. 3 December 2010

Arrhythmogenic right ventricular cardiomyopathy.
Ellinor, P.T. and Macrae, C.A. and Thierfelder, L.
Heart Failure Clinics 6 (2): 161-177. April 2010

Changes in endovascular trophoblast invasion and spiral artery remodelling at term in a transgenic preeclamptic rat model.
Geusens, N. and Hering, L. and Verlohren, S. and Luyten, C. and Drijkoningen, K. and Taube, M. and Vercruysse, L. and Hanssens, M. and Dechend, R. and Pijnenborg, R.
Placenta 31 (4): 320-326. April 2010

alpha(1A)-adrenergic receptor-directed autoimmunity induces left ventricular damage and diastolic dysfunction in rats.
Wenzel, K. and Wallukat, G. and Qadri, F. and Huebner, N. and Schulz, H. and Hummel, O. and Herse, F. and Heuser, A. and Fischer, R. and Heidecke, H. and Luft, F.C. and Mueller, D.N. and Dietz, R. and Dechend, R.
PLoS ONE 5 (2): e9409. 24 February 2010

2009

Growth plasticity of the embryonic and fetal heart.
Drenckhahn, J.D.
BioEssays 31 (12): 1288-1298. December 2009

Improvement of fractional flow reserve and collateral flow by treatment with external counterpulsation (Art.Net.-2 Trial).
Buschmann, E.E. and Utz, W. and Pagonas, N. and Schulz-Menger, J. and Busjahn, A. and Monti, J. and Maerz, W. and le Noble, F. and Thierfelder, L. and Dietz, R. and Klauss, V. and Gross, M. and Buschmann, I.R.
European Journal of Clinical Investigation 39 (10): 866-875. October 2009

Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease.
Gramlich, M. and Michely, B. and Krohne, C. and Heuser, A. and Erdmann, B. and Klaassen, S. and Hudson, B. and Magarin, M. and Kirchner, F. and Todiras, M. and Granzier, H. and Labeit, S. and Thierfelder, L. and Gerull, B.
Journal of Molecular and Cellular Cardiology 47 (3): 352-358. September 2009

Growth arrest specific protein 6 participates in DOCA-induced target-organ damage.
Park, J.K. and Theuer, S. and Kirsch, T. and Lindschau, C. and Klinge, U. and Heuser, A. and Plehm, R. and Todiras, M. and Carmeliet, P. and Haller, H. and Luft, F.C. and Mueller, D.N. and Fiebeler, A.
Hypertension 54 (2): 359-364. August 2009

3-D Imaging of Biomedical Samples.
Mcnaughton, D. and Wood, B.R. and Cox, T.C. and Drenckhahn, J.D. and Bambery, K.R.
In: Infrared and Raman Spectroscopic Imaging. Wiley-VCH, 203-221. ISBN 9783527319930 15 April 2009

2008

Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development.
Drenckhahn, J.D. and Schwarz, Q.P. and Gray, S. and Laskowski, A. and Kiriazis, H. and Ming, Z. and Harvey, R.P. and Du, X.J. and Thorburn, D.R. and Cox, T.C.
Developmental Cell 15 (4): 521-533. 14 October 2008

Role of the multidomain protein spinophilin in blood pressure and cardiac function regulation.
da Costa-Goncalves, A.C. and Tank, J. and Plehm, R. and Diedrich, A. and Todiras, M. and Gollasch, M. and Heuser, A. and Wellner, M. and Bader, M. and Jordan, J. and Luft, F.C. and Gross, V.
Hypertension 52 (4): 702-707. October 2008

Coiled-coiled domains as a mechanism to stop haemorrhage after renal biopsies.
Pilz, B. and Kettritz, R. and Bieringer, M. and Luft, F.C.
Nephrology Dialysis Transplantation 23 (8): 2688-2689. August 2008

Color doppler ultrasonography of hand and finger arteries to differentiate primary from secondary forms of Raynaud's phenomenon.
Schmidt, W.A. and Krause, A. and Schicke, B. and Wernicke, D.
Journal of Rheumatology 35 (8): 1591-1598. August 2008

Mutations in sarcomere protein genes in left ventricular noncompaction.
Klaassen, S. and Probst, S. and Oechslin, E. and Gerull, B. and Krings, G. and Schuler, P. and Greutmann, M. and Huerlimann, D. and Yegitbasi, M. and Pons, L. and Gramlich, M. and Drenckhahn, J.D. and Heuser, A. and Berger, F. and Jenni, R. and Thierfelder, L.
Circulation 117 (22): 2893-2901. 3 June 2008

Assoziation zwischen dem histopathologischen Synovialitis-Typ II und einem erhoehten Pyridinolin-Gehalt im Synovialgewebe bei rheumatoider Arthritis [Association between histopathologic type II synovitis and increased amounts of pyridinoline in synovial tissue samples in rheumatoid arthritis].
Wernicke, D. and Voigt, A. and Mueller, A. and Schmidt, W.A. and Stiehl, P. and Hein, G.
Zeitschrift fuer Rheumatologie 67 (3): 225-231. May 2008

Soluble epoxide hydrolase is a susceptibility factor for heart failure in a rat model of human disease.
Monti, J. and Fischer, J. and Paskas, S. and Heinig, M. and Schulz, H. and Goesele, C. and Heuser, A. and Fischer, R. and Schmidt, C. and Schirdewan, A. and Gross, V. and Hummel, O. and Maatz, H. and Patone, G. and Saar, K. and Vingron, M. and Weldon, S.M. and Lindpaintner, K. and Hammock, B.D. and Rohde, K. and Dietz, R. and Cook, S.A. and Schunck, W.H. and Luft, F.C. and Huebner, N.
Nature Genetics 40 (5): 529-537. May 2008

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
Merner, N.D. and Hodgkinson, K.A. and Haywood, A.F. and Connors, S. and French, V.M. and Drenckhahn, J.D. and Kupprion, C. and Ramadanova, K. and Thierfelder, L. and McKenna, W. and Gallagher, B. and Morris-Larkin, L. and Bassett, A.S. and Parfrey, P.S. and Young, T.L.
American Journal of Human Genetics 82 (4): 809-821. 11 April 2008

Dietary n-3 polyunsaturated fatty acids and direct renin inhibition improve electrical remodeling in a model of high human renin hypertension.
Fischer, R. and Dechend, R. and Qadri, F. and Markovic, M. and Feldt, S. and Herse, F. and Park, J.K. and Gapelyuk, A. and Schwarz, I. and Zacharzowsky, U.B. and Plehm, R. and Safak, E. and Heuser, A. and Schirdewan, A. and Luft, F.C. and Schunck, W.H. and Mueller, D.N.
Hypertension 51 (2): 540-546. February 2008

Interface membrane fibroblasts around aseptically loosened endoprostheses express MMP-13.
Wagner, S. and Gollwitzer, H. and Wernicke, D. and Langer, R. and Siebenrock, K.A. and Hofstetter, W.
Journal of Orthopaedic Research 26 (2): 143-152. February 2008

Ultrasonography of salivary glands - a highly specific imaging procedure for diagnosis of Sjoegren's syndrome.
Wernicke, D. and Hess, H. and Gromnica-Ihle, E. and Krause, A. and Schmidt, W.A.
Journal of Rheumatology 35 (2): 285-293. February 2008

Focused Review: Ventricular noncompaction: an update.
Klaassen, S.
In: Braunwald's Heart Disease: a textbook of cardiovascular medicine. Saunders, Philadelphia, Pa., Chapter 65. ISBN 978-1-416-04104-7 2008

2007

Torsade de pointes during combined treatment with risperidone and citalopram.
Blaschke, D. and Parwani, A.S. and Huemer, M. and Rolf, S. and Boldt, L.H. and Dietz, R. and Haverkamp, W.
Pharmacopsychiatry 40 (6): 294-295. November 2007

Cardiac magnetic field map topology quantified by Kullback-Leibler entropy identifies patients with hypertrophic cardiomyopathy.
Schirdewan, A. and Gapelyuk, A. and Fischer, R. and Koch, L. and Schutt, H. and Zacharzowsky, U. and Dietz, R. and Thierfelder, L. and Wessel, N.
Chaos 17 (1): 15118-15128. March 2007

Autonomic cardiac control in animal models of cardiovascular diseases II. Variability analysis in transgenic rats with alpha-tropomyosin mutations Asp175Asn and Glu180Gly.
Wernicke, D. and Wessel, N. and Malberg, H. and Plehm, R. and Bauernschmitt, R. and Thierfelder, L.
Biomedizinische Technik 52 (1): 50-55. February 2007

Autonomic cardiac control in animal models of cardiovascular diseases. I. Methods of variability analysis.
Wessel, N. and Bauernschmitt, R. and Wernicke, D. and Kurths, J. and Malberg, H.
Biomedizinische Technik 52 (1): 43-49. February 2007

2006

A nuclear receptor corepressor-dependent pathway mediates suppression of cytokine-induced C-reactive protein gene expression by liver X receptor.
Blaschke, F. and Takata, Y. and Caglayan, E. and Collins, A. and Tontonoz, P. and Hsueh, W.A. and Tangirala, R.K.
Circulation Research 99 (12): e88-e99. 8 December 2006

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

Arrhythmogenic right ventricular cardiomyopathy: moving toward mechanism.
MacRae, C.A. and Birchmeier, W. and Thierfelder, L.
Journal of Clinical Investigation 116 (7): 1825-1828. 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

2005

Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C.
Schmidtmann, A. and Lindow, C. and Villard, S. and Heuser, A. and Muegge, A. and Gessner, R. and Granier, C. and Jaquet, K.
FEBS Journal 272 (23): 6087-6097. December 2005

The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5).
Hodgkinson, K.A. and Parfrey, P.S. and Bassett, A.S. and Kupprion, C. and Drenckhahn, J. and Norman, M.W. and Thierfelder, L. and Stuckless, S.N. and Dicks, E.L. and McKenna, W.J. and Connors, S.P.
Journal of the American College of Cardiology 45 (3): 400-408. 1 January 2005

2004

Armschwellung und lokale Hautreaktion nach Di-Te-Impfung: 2 Fallbeispiele [Arm swelling and local skin reaction after Di-Te vaccination. 2 case reports].
Thierfelder, C. and Flueckiger, U.
Schweizerische Rundschau fuer Medizin Praxis 93 (46): 1929-1931. 10 November 2004

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

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

α-tropomyosin mutations Asp175Asn and Glu180Gly affect cardiac function in transgenic rats in different ways.
Wernicke, D. and Thiel, C. and Duja-Isac, C.M. and Essine, K.V. and Spindler, M. and Nunez, D.J.R. and Plehm, R. and Wessel, N. and Hammes, A. and Edwards, R.J. and Lippoldt, A. and Zacharias, U. and Stroemer, H. and Neubauer, S. and Davies, M.J. and Morano, I. and Thierfelder, L.
American Journal of Physiology Regulatory Integrative and Comparative Physiology 287 (3): R685-R695. 1 September 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

2003

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

2002

Characterisation of the cell type-specificity of collagenase 3 mRNA expression in comparison with membrane type 1 matrix metal loproteinase and gelatinase A in the synovial membrane in rheumatoid arthritis.
Petrow, P.K. and Wernicke, D. and Schulze-Westhoff, C. and Hummel, K.M. and Brauer, R. and Kriegsmann, J. and Gromnica-Ihle, E. and Gay, R.E. and Gay, S.
Annals of the Rheumatic Diseases 61 (5): 391-397. May 2002

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

Stimulation of collagenase 3 expression in synovial fibroblasts of patients with rheumatoid arthritis by contact with a three-dimensional collagen matrix or with normal cartilage when coimplanted in NOD/SCID mice.
Wernicke, D. and Schulze-Westoff, C. and Petrow, P. and Brauer, R. and Zacher, J. and Gay, S. and Gromnica-Ihle, E.
Arthritis and Rheumatism 46 (1): 64-74. 1 January 2002

2001

Genetik der dilatativen Kardiomyopathie.
Osterziel, K.J. and Scheffold, T. and Perrot, A. and Dietz, R.
Zeitschrift fuer Kardiologie 90 (7): 461-469. July 2001

Statistical considerations for genome-wide scans: design and application of a novel software package POLYMORPHISM.
Niu, T. and Struk, B. and Lindpaintner, K.
Human Heredity 52 (2): 102-109. July 2001

Mutation detection by cycle sequencing.
Thierfelder, L.
Current Protocols in Human Genetics Chapter 7 (Unit 7.7) May 2001

A prospective evaluation of the CD14 C(-260)T gene polymorphism and the risk of myocardial infarction.
Zee, R.Y. and Lindpaintner, K. and Struk, B. and Hennekens, C.H. and Ridker, P.M.
Atherosclerosis 154 (3): 699-702. 15 February 2001

A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.
Cai, L. and Lumsden, A. and Guenther, U.P. and Neldner, S.A. and Zaech, S. and Knoblauch, H. and Ramesar, R. and Hohl, D. and Callen, D.F. and Neldner, K.H. and Lindpaintner, K. and Richards, R.I. and Struk, B.
Journal of Molecular Medicine 79 (9): 536-546. 1 January 2001

ACE D/I polymorphism and incidence of post-PTCA restenosis - A prospective, angiography-based evaluation.
Zee, R.Y.L. and Fernandez-Ortiz, A. and Macaya, C. and Pintor, E. and Lindpaintner, K. and Fernandez-Cruz, A.
Hypertension 37 (3): 851-855. 1 January 2001

Hypercontractile properties of cardiac muscle fibers in a knock-in mouse model of cardiac myosin-binding protein-C.
Witt, C.C. and Gerull, B. and Davies, M.J. and Centner, T. and Linke, W.A. and Thierfelder, L.
Journal of Biological Chemistry 276 (7): 5353-5359. 1 January 2001

Molekulargenetische Diagnostik in der Kardiologie.
Thierfelder, L.
Zeitschrift fuer Kardiologie 90 : 65-66. 1 January 2001

2000

Verwendung von Kollagenase 3 zum Nachweis von destruktiven Gelenkerkrankungen, insbesondere zur Prognose des Krankheitsverlaufs und zur genetischen Praedisposition der Rheumatoiden Arthritis (RA).
Wernicke, D. and Gromnica-Ihle, E. and Freudiger, D. and Schulze-Westoff, C.
DE19913428A1 ; US6,756,197. 28 September 2000

A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure.
Cai, L. and Struk, B. and Adams, M.D. and Ji, W. and Haaf, T. and Kang, H.L. and Dho, S.H. and Xu, X.Q. and Ringpfeil, F. and Nancarrow, J. and Zaech, S. and Schaen, L. and Stumm, M. and Niu, T.H. and Chung, J. and Lunze, K. and Verrecchia, B. and Goldsmith, L.A. and Viljoen, D. and Figuera, L.E. and Fuchs, W. and Lebwohl, M. and Uitto, J. and Richards, R. and Hohl, D. and Ramesar, R. and Callen, D.F. and Kim, U.J. and Doggett, N.A. and Neldner, K.H. and Lindpaintner, K.
Journal of Molecular Medicine 78 (1): 36-46. 1 January 2000

Genetische Aspekte der Arrhythmieentstehung.
Thierfelder, L.
Zeitschrift fuer Kardiologie 89 (Suppl. 3): 1-5. 1 January 2000

Genetisches Screening bei Kardiomyopathien.
Thierfelder, L.
Zeitschrift fuer Kardiologie 89 (7): 638-640. 1 January 2000

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.
Struk, B. and Cai, L. and Zaech, S. and Chung, W.J.J. and Lumsden, A. and Stumm, M. and Huber, M. and Schaen, L. and Kim, C.A. and Goldsmith, L.A. and Viljoen, D. and Figuera, L.E. and Fuchs, W. and Munier, F. and Ramesar, R. and Hohl, D. and Richards, R. and Neldner, K.H. and Lindpaintner, K.
Journal of Molecular Medicine 78 (5): 282-286. 1 January 2000

1999

Passive Laufvorrichtung fuer Kleintiere.
Wernicke, D. and Mattausch, H. and Trippmacher, I. and Plehm, R.
DE19826441A1. 16 December 1999

Heart failure in arrhythmogenic right ventricular dysplasia-cardiomyopathy.
Peters, S. and Peters, H. and Thierfelder, L.
International Journal of Cardiology 71 : 251-256. 1 December 1999

Risk stratification of sudden cardiac death and malignant ventricular arrhythmias in right ventricular dysplasia-cardiomyopathy.
Peters, S. and Peters, H. and Thierfelder, L.
International Journal of Cardiology 71 (3): 243-250. 1 December 1999

Fine-structure mapping of the hereditary inclusion body myopathy locus.
Eisenberg, I. and Thiel, C. and Levi, T. and Tiram, E. and Argov, Z. and Sadeh, M. and Jackson, C.L. and Thierfelder, L. and Mitrani-Rosenbaum, S.
Genomics 55 : 43-48. 1 January 1999

Die Genetik der arrhythmogenen rechtsventrikularen Kardiomyopathie [Genetics of arrhythmogenic right ventricular cardiomyopathy].
Thierfelder, L.
Medizinische Genetik 11 (2): 267-270. 1999

1998

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.
Niimura, H. and Bachinski, L.L. and Sangwatanaroj, S. and Watkins, H. and Chudley, A.E. and McKenna, W. and Kristinsson, A. and Roberts, R. and Sole, M. and Maron, B.J. and Seidman, J.G. and Seidman, C.E.
New England Journal of Medicine 338 (18): 1248-1257. 30 April 1998

A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.
Gerull, B. and Osterziel, K.J. and Witt, C. and Dietz, R. and Thierfelder, L.
Human Mutation 11 : 179-182. 1 January 1998

1997

Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.
Struk, B. and Neldner, K.H. and Rao, V.S. and Stjean, P. and Lindpaintner, K.
Human Molecular Genetics 6 (11): 1823-1828. October 1997

Evidence for primary genetic determination of heart rate regulation. Chromosomal mapping of a genetic locus in the rat.
Kreutz, R. and Stock, P. and Struk, B. and Hübner, N. and Ganten, D. and Lindpaintner, K.
Circulation 96 (4): 1078-1081. 19 August 1997

Clinical features of hypertrophic cardiomyopathy caused by mutation of a hot spot in the alpha tropomyosin gene.
Coviello, D.A. and Maron, B.J. and Spirito, P. and Watkins, H. and Vosberg, H.P. and Thierfelder, L.H. and Schoen, F.J. and Seidman, J.G. and Seidman, C.E.
Journal of the American College of Cardiology 29 (3): 635-640. 1 March 1997

Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function.
Golitsina, N. and An, Y. and Greenfield, N.J. and Thierfelder, L.H. and Iizuka, K. and Seidman, J.G. and Seidman, C.E. and Lehrer, S.S. and Hitchcock-DeGregori, S.E.
Biochemistry 36 : 4637-4642. 1 January 1997

Role of the alpha, beta, and gamma subunits of epithelial sodium channel in a model of polygenic hypertension.
Kreutz, R. and Struk, B. and Rubattu, S. and Hübner, N. and Szpirer, J. and Szpirer, C. and Ganten, D. and Lindpaintner, K.
Hypertension 29 : 131-136. 1 January 1997

1996

The Y chromosome. Epistatic and ecogenetic interactions in genetic hypertension.
Kreutz, R. and Stock, P. and Struk, B. and Lindpaintner, K.
Hypertension 28 : 895-897. 1 November 1996

1995

Animal models of genetic hypertension: what can we learn for human hypertension?
Rubattu, S. and Struk, B. and Kreutz, R. and Volpe, M. and Lindpaintner, K.
Clinical and Experimental Pharmacology and Physiology 22 : S386-S393. 1 December 1995

Mutations in the cardiac myosin binding protein-c gene on chromosome 11 cause familial hypertrophic cardiomyopathy.
Watkins, H. and Conner, D. and Thierfelder, L.H. and Jarcho, J.A. and MacRae, C. and McKenna, W.J. and Maron, B.J. and Seidman, J.G. and Seidman, C.E.
Nature Genetics 11 (4): 434-437. 1 December 1995

Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.
MacRae, C.A. and Ghaisas, N. and Kass, S. and Donnelly, S. and Basson, C.T. and Watkins, H.C. and Anan, R. and Thierfelder, L.H. and McGarry, K. and Rowland, E. and McKenna, W.J. and Seidman, J.G. and Seidman, C.E.
Journal of Clinical Investigation 96 (3): 1216-1220. September 1995

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
Watkins, H. and McKenna, W.J. and Thierfelder, L.H. and Suk, H.J. and Anan, R. and Odonoghue, A. and Spirito, P. and Matsumori, A. and Moravec, C.S. and Seidman, J.G. and Seidman, C.E.
New England Journal of Medicine 332 (16): 1058-1064. 20 April 1995

1994

alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
Thierfelder, L.H. and Watkins, H. and MacRae, C. and Lamas, R. and McKenna, W. and Vosberg, H.P. and Seidman, J.G. and Seidman, C.E.
Cell 77 (5): 701-712. 3 June 1994

An evaluation of ribonuclease protection assays for the detection of beta-cardiac myosin heavy chain gene mutations.
MacRae, C. and Watkins, H.C. and Jarcho, J.A. and Thierfelder, L.H. and McKenna, W.J. and Seidman, J.G. and Seidman, C.E.
Circulation 89 (1): 33-35. January 1994

Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.
Anan, R. and Greve, G. and Thierfelder, L.H. and Watkins, H. and McKenna, W.J. and Solomon, S. and Vecchio, C. and Shono, H. and Nakao, S. and Tanaka, H.
Journal of Clinical Investigation 93 (1): 280-285. January 1994

1993

Independent origin of identical cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.
Watkins, H. and Thierfelder, L.H. and Anan, R. and Jarcho, J. and Matsumori, A. and McKenna, W. and Seidman, J.G. and Seidman, C.E.
American Journal of Human Genetics 53 (6): 1180-1185. December 1993

A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.
Thierfelder, L.H. and MacRae, C. and Watkins, H. and Tomfohrde, J. and Williams, M. and McKenna, W. and Bohm, K. and Noeske, G. and Schlepper, M. and Bowcock, A.
Proceedings of the National Academy of Sciences of the United States of America 90 (13): 6270-6274. 1 July 1993

A dinucleotide repeat polymorphism in the human LAMB2 gene on chromosome 1q.
Watkins, H. and MacRae, C. and Thierfelder, L.H. and McKenna, W.J. and Seidman, C.E. and Seidman, J.G.
Human Molecular Genetics 2 : 1084-1084. 1 January 1993

A disease locus for familiar hypertrophic cardiomyopathy maps to chromosome 1q3.
Watkins, H. and MacRae, C. and Thierfelder, L.H. and Chou, Y. and Frenneaux, M. and McKenna, W. and Seidman, J.G. and Seidman, C.E.
Nature Genetics 3 : 333-336. 1 January 1993

1992

Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.
Watkins, H. and Thierfelder, L. and Hwang, D.S. and McKenna, W. and Seidman, J.G. and Seidman, C.E.
Journal of Clinical Investigation 90 (5): 1666-1671. November 1992

1991

The heart in heart failure. Ventricular and myocardial alterations.
Holubarsch, C. and Hasenfuss, G. and Thierfelder, L. and Pieske, B. and Just, H.
European Heart Journal 12 Suppl. C : 8-13. 1 August 1991

The effect of the partial beta-1-adrenoceptor agonist xamoterol on hemodynamics and myocardial energetics in patients with idiopathic dilated cardiomyopathy.
Thierfelder, L. and Holubarsch, C. and Hasenfuss, G. and Heiss, H.W. and Just, H.
Journal of Cardiovascular Pharmacology 17 : 593-599. 1 April 1991

Energetic consequences of substances currently used or recommended for long-term treatment of chronic heart failure.
Holubarsch, C. and Hasenfuss, G. and Thierfelder, L. and Just, H.
Basic Research in Cardiology 86 Suppl 1 : 107-112. 1 January 1991

Left ventricular geometry, myocardial function and energetics of the dilated left ventricle. Influence of vasodilators and positive inotropic substances.
Holubarsch, C. and Hasenfuss, G. and Thierfelder, L. and Just, H.
Herz 16 : 298-303. 1 January 1991

Vasodilatation und positive Inotropie des Phosphodiesterasehemmers Enoximon.
Holubarsch, C. and Hasenfuss, G. and Thierfelder, L. and Heiss, H.W. and Just, H.
Zeitschrift fuer Kardiologie 80 Suppl 4 : 35-40. 1 January 1991

1990

Myocardial energetics in dilated cardiomyopathy.
Thierfelder, L. and Holubarsch, C.H. and Hasenfuss, G. and Just, H.J.
Clinical Cardiology 13 (9): 649-654. September 1990

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