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Natural History of MYH7-Related Dilated Cardiomyopathy.
de Frutos F, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, Méndez I, Lorca R, Verdonschot JAJ, García-Granja PE, Bilinska Z, Fatkin D, Fuentes-Cañamero ME, García-Pinilla JM, García-Álvarez MI, Girolami F, Barriales-Villa R, Díez-López C, Lopes LR, Wahbi K, García-Álvarez A, Rodríguez-Sánchez I, Rekondo-Olaetxea J, Rodríguez-Palomares JF, Gallego-Delgado M, Meder B, Kubanek M, Hansen FG, Restrepo-Córdoba MA, Palomino-Doza J, Ruiz-Guerrero L, Sarquella-Brugada G, Perez-Perez AJ, Bermúdez-Jiménez FJ, Ripoll-Vera T, Rasmussen TB, Jansen M, Sabater-Molina M, Elliot PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. de Frutos F, et al. Among authors: rasmussen tb. J Am Coll Cardiol. 2022 Oct 11;80(15):1447-1461. doi: 10.1016/j.jacc.2022.07.023. Epub 2022 Aug 22. J Am Coll Cardiol. 2022. PMID: 36007715 Free article.
Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.
Rasmussen TB, Nissen PH, Palmfeldt J, Gehmlich K, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Baandrup UT, Bross P, Mogensen J. Rasmussen TB, et al. Circ Cardiovasc Genet. 2014 Jun;7(3):230-40. doi: 10.1161/CIRCGENETICS.113.000338. Epub 2014 Apr 4. Circ Cardiovasc Genet. 2014. PMID: 24704780
A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.
Beqqali A, Bollen IA, Rasmussen TB, van den Hoogenhof MM, van Deutekom HW, Schafer S, Haas J, Meder B, Sørensen KE, van Oort RJ, Mogensen J, Hubner N, Creemers EE, van der Velden J, Pinto YM. Beqqali A, et al. Among authors: rasmussen tb. Cardiovasc Res. 2016 Oct;112(1):452-63. doi: 10.1093/cvr/cvw192. Epub 2016 Aug 5. Cardiovasc Res. 2016. PMID: 27496873
The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.
Al-Saaidi RA, Rasmussen TB, Birkler RID, Palmfeldt J, Beqqali A, Pinto YM, Nissen PH, Baandrup U, Mølgaard H, Hey TM, Eiskjaer H, Bross P, Mogensen J. Al-Saaidi RA, et al. Among authors: rasmussen tb. Eur J Heart Fail. 2018 Oct;20(10):1404-1412. doi: 10.1002/ejhf.1241. Epub 2018 Jun 26. Eur J Heart Fail. 2018. PMID: 29943882 Free article.
Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids).
Norrish G, Ding T, Field E, Ziólkowska L, Olivotto I, Limongelli G, Anastasakis A, Weintraub R, Biagini E, Ragni L, Prendiville T, Duignan S, McLeod K, Ilina M, Fernández A, Bökenkamp R, Baban A, Kubuš P, Daubeney PEF, Sarquella-Brugada G, Cesar S, Marrone C, Bhole V, Medrano C, Uzun O, Brown E, Gran F, Castro FJ, Stuart G, Vignati G, Barriales-Villa R, Guereta LG, Adwani S, Linter K, Bharucha T, Garcia-Pavia P, Rasmussen TB, Calcagnino MM, Jones CB, De Wilde H, Toru-Kubo J, Felice T, Mogensen J, Mathur S, Reinhardt Z, O'Mahony C, Elliott PM, Omar RZ, Kaski JP. Norrish G, et al. Among authors: rasmussen tb. JAMA Cardiol. 2019 Sep 1;4(9):918-927. doi: 10.1001/jamacardio.2019.2861. JAMA Cardiol. 2019. PMID: 31411652 Free PMC article.
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
Lopez-Sainz A, Dominguez F, Lopes LR, Ochoa JP, Barriales-Villa R, Climent V, Linschoten M, Tiron C, Chiriatti C, Marques N, Rasmussen TB, Espinosa MÁ, Beinart R, Quarta G, Cesar S, Field E, Garcia-Pinilla JM, Bilinska Z, Muir AR, Roberts AM, Santas E, Zorio E, Peña-Peña ML, Navarro M, Fernandez A, Palomino-Doza J, Azevedo O, Lorenzini M, García-Álvarez MI, Bento D, Jensen MK, Méndez I, Pezzoli L, Sarquella-Brugada G, Campuzano O, Gonzalez-Lopez E, Mogensen J, Kaski JP, Arad M, Brugada R, Asselbergs FW, Monserrat L, Olivotto I, Elliott PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. Lopez-Sainz A, et al. Among authors: rasmussen tb. J Am Coll Cardiol. 2020 Jul 14;76(2):186-197. doi: 10.1016/j.jacc.2020.05.029. J Am Coll Cardiol. 2020. PMID: 32646569 Free article.
257 results