Torsten Bloch Rasmussen

  1. 2021
  2. Published

    Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy. / Lopes, Luis R.; Garcia-Hernández, Soledad; Lorenzini, Massimiliano; Futema, Marta; Chumakova, Olga; Zateyshchikov, Dmitry; Isidoro-Garcia, Maria; Villacorta, Eduardo; Escobar-Lopez, Luis; Garcia-Pavia, Pablo; Bilbao, Raquel; Dobarro, David; Sandin-Fuentes, Maria; Catalli, Claudio; Gener Querol, Blanca; Mezcua, Ainhoa; Garcia Pinilla, Jose; Bloch Rasmussen, Torsten; Ferreira-Aguar, Ana; Revilla-Martí, Pablo; Basurte Elorz, Maria Teresa; Bautista Paves, Alicia; Ramon Gimeno, Juan; Figueroa, Ana Virginia; Franco-Gutierrez, Raul; Fuentes-Cañamero, Maria Eugenia; Martinez Moreno, Marina; Ortiz-Genga, Martin; Piqueras-Flores, Jesus; Analia Ramos, Karina; Rudzitis, Ainars; Ruiz-Guerrero, Luis; Stein, Ricardo; Triguero-Bocharán, Mayte; De La Higuera, Luis; Ochoa, Juan Pablo; Abu-Bonsrah, Dad; Kwok, Cecilia Y.T.; Smith, Jacob B.; Porrello, Enzo R.; Akhtar, Mohammed M.; Jager, Joanna; Ashworth, Michael; Syrris, Petros; Elliott, David A.; Monserrat, Lorenzo; Elliott, Perry M.

    In: European Heart Journal, Vol. 42, No. 32, 08.2021, p. 3063-3073.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  3. Published

    Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure. / Akhtar, Mohammed Majid; Lorenzini, Massimiliano; Pavlou, Menelaos; Ochoa, Juan Pablo; O'Mahony, Constantinos; Restrepo-Cordoba, Maria Alejandra; Segura-Rodriguez, Diego; Bermúdez-Jiménez, Francisco; Molina, Pilar; Cuenca, Sofia; Ader, Flavie; Larrañaga-Moreira, Jose M; Sabater-Molina, Maria; Garcia-Alvarez, Maria I; Arantzamendi, Larraitz Gaztañaga; Truszkowska, Grazyna; Ortiz-Genga, Martin; Ruiz, Itziar Solla; Nielson, Søren Kristian; Rasmussen, Torsten Bloch; Robles Mezcua, Ainhoa; Alvarez-Rubio, Jorge; Eiskjaer, Hans; Gautel, Mathias; Garcia-Pinilla, José M; Ripoll-Vera, Tomas; Mogensen, Jens; Limeres Freire, Javier; Rodríguez-Palomares, Jose F; Peña-Peña, Maria Luisa; Rangel-Sousa, Diego; Palomino-Doza, Julian; Arana Achaga, Xabier; Bilinska, Zofia; Zamarreño Golvano, Estibaliz; Climent, Vincent; Peñalver, Marina Navarro; Barriales-Villa, Roberto; Charron, Philippe; Yotti, Raquel; Zorio, Esther; Jiménez-Jáimez, Juan; Garcia-Pavia, Pablo; Elliott, Perry M; European Genetic Cardiomyopathies Initiative Investigators.

    In: JAMA cardiology, Vol. 6, No. 8, 08.2021, p. 891-901.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  4. Published

    Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy. / Restrepo-Cordoba, Maria A.; Wahbi, Karim; Florian, Anca R.; Jiménez-Jáimez, Juan; Politano, Luisa; Arad, Michael; Climent-Paya, Vicente; Garcia-Alvarez, Ana; Hansen, Rasmus B.; Larrañaga-Moreira, José M.; Kubanek, Milos; Lopes, Luis R.; Ros, Andrea; Jurcut, Ruxandra; Rasmussen, Torsten B.; Ruiz-Guerrero, Luis; Pribe-Wolferts, Regina; Palomino-Doza, Julian; Bilinska, Zofia; Rodríguez-Palomares, José F.; Van Loon, Rosa L.E.; Basurte Elorz, María Teresa; Quarta, Giovanni; Robledo Iñarritu, Maria; Verdonschot, Job A.J.; Stojkovic, Tanya; Shomanova, Zornitsa; Bermudez-Jimenez, Francisco; Palladino, Alberto; Freimark, Dov; García-Álvarez, Maria I.; Jorda, Paloma; Dominguez, Fernando; Ochoa, Juan Pablo; Girolami, Francesca; Brugada, Ramon; Meder, Benjamin; Barriales-Villa, Roberto; Mogensen, Jens; Laforêt, Pascal; Yilmaz, Ali; Elliott, Perry; Garcia-Pavia, Pablo; for the European Genetic Cardiomyopathies Initiative Investigators (see online supplementary Appendix S1).

    In: European Journal of Heart Failure, Vol. 23, No. 8, 08.2021, p. 1276-1286.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  5. 2020
  6. Published

    Early-onset atrial fibrillation patients show reduced left ventricular ejection fraction and increased atrial fibrosis. / Andreasen, Laura; Bertelsen, Litten; Ghouse, Jonas; Lundegaard, Pia R.; Ahlberg, Gustav; Refsgaard, Lena; Rasmussen, Torsten B.; Eiskjær, Hans; Haunsø, Stig; Vejlstrup, Niels; Svendsen, Jesper H.; Olesen, Morten S.

    In: Scientific Reports, Vol. 10, 10039, 12.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  7. E-pub ahead of print

    Dilated cardiomyopathy caused by truncating titin variants : long-term outcomes, arrhythmias, response to treatment and sex differences. / Vissing, Christoffer Rasmus; Rasmussen, Torsten Bloch; Dybro, Anne Mette; Olesen, Morten Salling; Pedersen, Lisbeth Nørum; Jensen, Morten; Bundgaard, Henning; Christensen, Alex Hørby.

    In: Journal of Medical Genetics, 26.10.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  8. Published

    Clinical and Genetic Investigations of 109 Index Patients With Dilated Cardiomyopathy and 445 of Their Relatives. / Hey, Thomas M.; Rasmussen, Torsten B.; Madsen, Trine; Aagaard, Mads Malik; Harbo, Maria; Mølgaard, Henning; Nielsen, Søren K.; Haas, Jan; Meder, Benjamin; Møller, Jacob E.; Eiskjær, Hans; Mogensen, Jens.

    In: Circulation. Heart Failure, Vol. 13, No. 10, e006701, 01.10.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  9. Published

    Human pluripotent stem cell line (HDZi001-A) derived from a patient carrying the ARVC-5 associated mutation TMEM43-p.S358L. / Ratnavadivel, Sandra; Szymanski de Toledo, Marcelo; Rasmussen, Torsten Bloch; Šarić, Tomo; Gummert, Jan; Zenke, Martin; Milting, Hendrik.

    In: Stem Cell Research, Vol. 48, 101957, 10.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  10. Published

    Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis. / Lopez-Sainz, Angela; Dominguez, Fernando; Lopes, Luis Rocha; Ochoa, Juan Pablo; Barriales, Roberto; Climent, Vicente; Linschoten, Marijke; Tiron, Coloma; Chiriatti, Chiara; Marques, Nuno; Rasmussen, Torsten B.; Espinosa, María Ángeles; Beinart, Roy; Quarta, Giovanni; Cesar, Sergi; Field, Ella; Garcia-Pinilla, Jose M.; Bilinska, Zofia; Muir, Alison R.; Roberts, Angharad M.; Santas, Enrique; Zorio, Esther; Peña-Peña, Maria Luisa; Navarro, Marina; Fernandez, Adrian; Palomino-Doza, Julian; Azevedo, Olga; Lorenzini, Massimiliano; García-Álvarez, Maria I.; Bento, Dina; Jensen, Morten K.; Méndez, Irene; Pezzoli, Laura; Sarquella-Brugada, Georgia; Campuzano, Oscar; Gonzalez-Lopez, Esther; Mogensen, Jens; Kaski, Juan Pablo; Arad, Michael; Brugada, Ramon; Asselbergs, Folkert W.; Monserrat, Lorenzo; Olivotto, Iacopo; Elliott, Perry M.; Garcia-Pavia, Pablo; European Genetic Cardiomyopathies Initiative Investigators.

    In: Journal of the American College of Cardiology, Vol. 76, No. 2, 07.2020, p. 186-197.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  11. 2018
  12. Published

    The clinical outcome of LMNA missense mutations appears to be associated with the amount of mutated protein in the nuclear envelope. / Al-Saaidi, Rasha A; Rasmussen, Torsten B; Birkler, Rune I D; Palmfeldt, Johan; Beqqali, Abdelaziz; Pinto, Yigal M; Nissen, Peter H; Baandrup, Ulrik; Mølgaard, Henning; Hey, Thomas M; Eiskjaer, Hans; Bross, Peter; Mogensen, Jens.

    In: European Journal of Heart Failure, 26.06.2018.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  13. 2016
  14. Published

    Statin-associated rhabdomyolysis triggered by drug-drug interaction with itraconazole. / Dybro, Anne Mette; Damkier, Per; Rasmussen, Torsten Bloch; Hellfritzsch, Maja.

    In: BMJ Case Reports, Vol. 2016, 07.09.2016.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  15. Published

    A Mutation in the Glutamate-rich Region of RBM20 Causes Dilated Cardiomyopathy through Missplicing of Titin and Impaired Frank-Starling Mechanism. / Beqqali, Abdelaziz; Bollen, Ilse A E; Rasmussen, Torsten Bloch; van den Hoogenhof, Maarten M; van Deutekom, Hanneke W M; Schafer, Sebastian; Haas, Jan; Meder, Benjamin; Sørensen, Keld Ejvind; van Oort, Ralph J; Mogensen, Jens; Hubner, Norbert; Creemers, Esther E; van der Velden, Jolanda; Pinto, Yigal M.

    In: Cardiovascular Research, Vol. 112, No. 1, 2016.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  16. Published

    RBM20 Regulates Circular RNA Production From the Titin Gene. / Khan, Mohsin A; Reckman, Yolan J; Aufiero, Simona; van den Hoogenhof, Maarten M; van der Made, Ingeborg; Beqqali, Abdelaziz; Koolbergen, David R; Rasmussen, Torsten Bloch; Van Der Velden, Jolanda; Creemers, Esther E; Pinto, Yigal M.

    In: Circulation Research, Vol. 119, No. 9, 2016, p. 996-1003.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  17. 2014
  18. Published

    Truncating Plakophilin-2 Mutations in Arrhythmogenic Cardiomyopathy Are Associated with Protein Haploinsufficiency in Both Myocardium and Epidermis. / Rasmussen, Torsten Bloch; Nissen, Peter H; Palmfeldt, Johan; Gehmlich, Katja; Dalager, Søren; Jensen, Uffe B; Kim, Won Y; Heickendorff, Lene; Mølgaard, Henning; Jensen, Henrik K; Baandrup, Ulrik T; Bross, Peter; Mogensen, Jens.

    In: Circulation. Cardiovascular Genetics (Online), 04.04.2014.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  19. Published

    The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus. / Milting, Hendrik; Klauke, Bärbel; Christensen, Alex Hoerby; Müsebeck, Jörg; Walhorn, Volker; Grannemann, Sören; Münnich, Tamara; X0160 Ari X0107, Tomo; Rasmussen, Torsten Bloch; Jensen, Henrik Kjærulf; Mogensen, Jens; Baecker, Carolin; Romaker, Elena; Laser, Kai Thorsten; Zu Knyphausen, Edzard; Kassner, Astrid; Gummert, Jan; Judge, Daniel P; Connors, Sean; Hodgkinson, Kathy; Young, Terry-L; van der Zwaag, Paul; van Tintelen, Peter; Anselmetti, Dario.

    In: European Heart Journal, 04.03.2014.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  20. 2013
  21. Published

    The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins. / Al-Saaidi, Rasha; Rasmussen, Torsten Bloch; Palmfeldt, Johan; Nissen, Peter H; Beqqali, Abdelaziz; Hansen, Jakob; Pinto, Yigal M; Boesen, Thomas; Bross, Peter; Mogensen, Jens.

    In: Experimental Cell Research, Vol. 319, No. 19, 31.08.2013, p. 3010–3019.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  22. Published

    Mutated Desmoglein-2 Proteins are Incorporated into Desmosomes and Exhibit Dominant-Negative Effects in Arrhythmogenic Right Ventricular Cardiomyopathy. / Rasmussen, Torsten B; Palmfeldt, Johan; Nissen, Peter H; Magnoni, Raffaela; Dalager, Søren; Jensen, Uffe B; Kim, Won Y; Heickendorff, Lene; Mølgaard, Henning; Jensen, Henrik K; Baandrup, Ulrik Thorngren; Bross, Peter; Mogensen, Jens.

    In: Human Mutation, 2013.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  23. Published

    Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms. / Rasmussen, T B; Hansen, Jakob; Nissen, P H; Palmfeldt, J; Dalager, S; Jensen, U B; Kim, W Y; Heickendorff, L; Mølgaard, H; Jensen, H K; Sørensen, K E; Baandrup, U T; Bross, P; Mogensen, J.

    In: Clinical Genetics, Vol. 84, No. 1, 2013, p. 20-30.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  24. 2011
  25. Published

    Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease). / Østergaard, John Rosendahl; Rasmussen, Torsten Bloch; Mølgaard, Henning.

    In: Neurology, Vol. 76, 05.04.2011, p. 1245-1251.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  26. Published

    Protein studies of desmoplakin mutations in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) and the Carvajal syndrome. / Rasmussen, Torsten Bloch.

    In: European Heart Journal Supplements, Vol. 32 (Abstract Supplement), No. 271, 2011.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  27. 2009
  28. Published

    Fatal giant cell myocarditis in a patient with multiple autoimmune disorders. / Rasmussen, Torsten Bloch; Dalager, Søren; Andersen, Niels Holmark; Hansen, Troels Krarup; Nielsen-Kudsk, Jens Erik.

    In: Student B M J, Vol. 23, No. 1, 01.01.2009.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  29. Published

    Fatal giant cell myocarditis in a patient with multiple autoimmune disorders. / Rasmussen, Torsten Bloch; Dalager, Soren; Andersen, Niels Holmark; Hansen, Troels Krarup; Nielsen-Kudsk, Jens Erik.

    In: B M J Case Reports, Vol. 2009, 2009.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  30. 2008
  31. Published

    Tosisk megacolon sekundært til Clostridium difficle associeret pseudomembranøs colitis. / Rasmussen, Torsten Bloch; Friis, Mikkel Lønborg; Lehnhoff, Rudolf; Tøttrup, Anders.

    In: Ugeskrift for Læger, Vol. 170, No. 19, 05.05.2008, p. 1662.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  32. Published

    Osmotisk demyelinieringssyndrom ved Addison krise og svær hyponatriæmi. / Andersen, Signe E.; Stausbøl-Grøn, Brian; Rasmussen, Torsten Bloch.

    In: Ugeskrift for Læger, Vol. 70, No. 50, 2008, p. 4117.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review