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Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Lopes LR, Garcia-Hernández S, Lorenzini M, Futema M, Chumakova O, Zateyshchikov D, Isidoro-Garcia M, Villacorta E, Escobar-Lopez L, Garcia-Pavia P, Bilbao R, Dobarro D, Sandin-Fuentes M, Catalli C, Gener Querol B, Mezcua A, Garcia Pinilla J, Bloch Rasmussen T, Ferreira-Aguar A, Revilla-Martí P, Basurte Elorz MT, Bautista Paves A, Ramon Gimeno J, Figueroa AV, Franco-Gutierrez R, Fuentes-Cañamero ME, Martinez Moreno M, Ortiz-Genga M, Piqueras-Flores J, Analia Ramos K, Rudzitis A, Ruiz-Guerrero L, Stein R, Triguero-Bocharán M, de la Higuera L, Ochoa JP, Abu-Bonsrah D, Kwok CYT, Smith JB, Porrello ER, Akhtar MM, Jager J, Ashworth M, Syrris P, Elliott DA, Monserrat L, Elliott PM. Lopes LR, et al. Eur Heart J. 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424. Eur Heart J. 2021. PMID: 34263907 Free PMC article.
Genetic basis of end-stage hypertrophic cardiomyopathy.
Garcia-Pavia P, Vázquez ME, Segovia J, Salas C, Avellana P, Gómez-Bueno M, Vilches C, Gallardo ME, Garesse R, Molano J, Bornstein B, Alonso-Pulpon L. Garcia-Pavia P, et al. Eur J Heart Fail. 2011 Nov;13(11):1193-201. doi: 10.1093/eurjhf/hfr110. Epub 2011 Sep 6. Eur J Heart Fail. 2011. PMID: 21896538 Free article.
Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy.
Luxán G, Casanova JC, Martínez-Poveda B, Prados B, D'Amato G, MacGrogan D, Gonzalez-Rajal A, Dobarro D, Torroja C, Martinez F, Izquierdo-García JL, Fernández-Friera L, Sabater-Molina M, Kong YY, Pizarro G, Ibañez B, Medrano C, García-Pavía P, Gimeno JR, Monserrat L, Jiménez-Borreguero LJ, de la Pompa JL. Luxán G, et al. Nat Med. 2013 Feb;19(2):193-201. doi: 10.1038/nm.3046. Epub 2013 Jan 13. Nat Med. 2013. PMID: 23314057
Prediction of thrombo-embolic risk in patients with hypertrophic cardiomyopathy (HCM Risk-CVA).
Guttmann OP, Pavlou M, O'Mahony C, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Garcia-Pavia P, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators. Guttmann OP, et al. Eur J Heart Fail. 2015 Aug;17(8):837-45. doi: 10.1002/ejhf.316. Epub 2015 Jul 16. Eur J Heart Fail. 2015. PMID: 26183688 Free PMC article.
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.
Claes GR, van Tienen FH, Lindsey P, Krapels IP, Helderman-van den Enden AT, Hoos MB, Barrois YE, Janssen JW, Paulussen AD, Sels JW, Kuijpers SH, van Tintelen JP, van den Berg MP, Heesen WF, Garcia-Pavia P, Perrot A, Christiaans I, Salemink S, Marcelis CL, Smeets HJ, Brunner HG, Volders PG, van den Wijngaard A. Claes GR, et al. Eur Heart J. 2016 Jun 14;37(23):1815-22. doi: 10.1093/eurheartj/ehv522. Epub 2015 Oct 24. Eur Heart J. 2016. PMID: 26497160
Plan of Action for Inherited Cardiovascular Diseases: Synthesis of Recommendations and Action Algorithms.
Barriales-Villa R, Gimeno-Blanes JR, Zorio-Grima E, Ripoll-Vera T, Evangelista-Masip A, Moya-Mitjans A, Serratosa-Fernández L, Albert-Brotons DC, García-Pinilla JM, García-Pavía P. Barriales-Villa R, et al. Rev Esp Cardiol (Engl Ed). 2016 Mar;69(3):300-9. doi: 10.1016/j.rec.2015.11.029. Epub 2016 Feb 6. Rev Esp Cardiol (Engl Ed). 2016. PMID: 26856793
279 results