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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.
Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.
Akhtar MM, Lorenzini M, Pavlou M, Ochoa JP, O'Mahony C, Restrepo-Cordoba MA, Segura-Rodriguez D, Bermúdez-Jiménez F, Molina P, Cuenca S, Ader F, Larrañaga-Moreira JM, Sabater-Molina M, Garcia-Alvarez MI, Arantzamendi LG, Truszkowska G, Ortiz-Genga M, Ruiz IS, Nielsen SK, Rasmussen TB, Robles Mezcua A, Alvarez-Rubio J, Eiskjaer H, Gautel M, Garcia-Pinilla JM, Ripoll-Vera T, Mogensen J, Limeres Freire J, Rodríguez-Palomares JF, Peña-Peña ML, Rangel-Sousa D, Palomino-Doza J, Arana Achaga X, Bilinska Z, Zamarreño Golvano E, Climent V, Peñalver MN, Barriales-Villa R, Charron P, Yotti R, Zorio E, Jiménez-Jáimez J, Garcia-Pavia P, Elliott PM; European Genetic Cardiomyopathies Initiative Investigators. Akhtar MM, et al. Among authors: rasmussen tb. JAMA Cardiol. 2021 Aug 1;6(8):891-901. doi: 10.1001/jamacardio.2021.1106. JAMA Cardiol. 2021. PMID: 33978673 Free PMC article.
Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy.
Restrepo-Cordoba MA, Wahbi K, Florian AR, Jiménez-Jáimez J, Politano L, Arad M, Climent-Paya V, Garcia-Alvarez A, Hansen RB, Larrañaga-Moreira JM, Kubanek M, Lopes LR, Ros A, Jurcut R, Rasmussen TB, Ruiz-Guerrero L, Pribe-Wolferts R, Palomino-Doza J, Bilinska Z, Rodríguez-Palomares JF, Van Loon RLE, Basurte Elorz MT, Quarta G, Robledo Iñarritu M, Verdonschot JAJ, Stojkovic T, Shomanova Z, Bermudez-Jimenez F, Palladino A, Freimark D, García-Álvarez MI, Jorda P, Dominguez F, Ochoa JP, Girolami F, Brugada R, Meder B, Barriales-Villa R, Mogensen J, Laforêt P, Yilmaz A, Elliott P, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators (see online supplementary Appendix S1). Restrepo-Cordoba MA, et al. Among authors: rasmussen tb. Eur J Heart Fail. 2021 Aug;23(8):1276-1286. doi: 10.1002/ejhf.2250. Epub 2021 Jun 9. Eur J Heart Fail. 2021. PMID: 34050592 Free article.
Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy.
Norrish G, Ding T, Field E, Cervi E, Ziółkowska L, Olivotto I, Khraiche D, Limongelli G, Anastasakis A, Weintraub R, Biagini E, Ragni L, Prendiville T, Duignan S, McLeod K, Ilina M, Fernández A, Marrone C, Bökenkamp R, Baban A, Kubus P, Daubeney PEF, Sarquella-Brugada G, Cesar S, Klaassen S, Ojala TH, Bhole V, Medrano C, Uzun O, Brown E, Gran F, Sinagra G, Castro FJ, Stuart G, Vignati G, Yamazawa H, Barriales-Villa R, Garcia-Guereta L, Adwani S, Linter K, Bharucha T, Garcia-Pavia P, Siles A, Rasmussen TB, Calcagnino M, Jones CB, De Wilde H, Kubo T, Felice T, Popoiu A, Mogensen J, Mathur S, Centeno F, Reinhardt Z, Schouvey S, O'Mahony C, Omar RZ, Elliott PM, Kaski JP. Norrish G, et al. Among authors: rasmussen tb. Circ Arrhythm Electrophysiol. 2022 May;15(5):e010075. doi: 10.1161/CIRCEP.121.010075. Epub 2022 May 2. Circ Arrhythm Electrophysiol. 2022. PMID: 35491873 Free PMC article.
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.
257 results