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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. Among authors: akhtar mm. Eur Heart J. 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424. Eur Heart J. 2021. PMID: 34263907 Free PMC article.
Anderson-Fabry disease in heart failure.
Akhtar MM, Elliott PM. Akhtar MM, et al. Biophys Rev. 2018 Aug;10(4):1107-1119. doi: 10.1007/s12551-018-0432-5. Epub 2018 Jun 16. Biophys Rev. 2018. PMID: 29909504 Free PMC article. Review.
Effectiveness of the 2014 European Society of Cardiology guideline on sudden cardiac death in hypertrophic cardiomyopathy: a systematic review and meta-analysis.
O'Mahony C, Akhtar MM, Anastasiou Z, Guttmann OP, Vriesendorp PA, Michels M, Magrì D, Autore C, Fernández A, Ochoa JP, Leong KMW, Varnava AM, Monserrat L, Anastasakis A, Garcia-Pavia P, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Omar RZ, Elliott PM. O'Mahony C, et al. Among authors: akhtar mm. Heart. 2019 Apr;105(8):623-631. doi: 10.1136/heartjnl-2018-313700. Epub 2018 Oct 26. Heart. 2019. PMID: 30366935
The genetics of hypertrophic cardiomyopathy.
Akhtar M, Elliott P. Akhtar M, et al. Glob Cardiol Sci Pract. 2018 Aug 12;2018(3):36. doi: 10.21542/gcsp.2018.36. Glob Cardiol Sci Pract. 2018. PMID: 30393648 Free PMC article. Review.
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.
Ochoa JP, Sabater-Molina M, García-Pinilla JM, Mogensen J, Restrepo-Córdoba A, Palomino-Doza J, Villacorta E, Martinez-Moreno M, Ramos-Maqueda J, Zorio E, Peña-Peña ML, García-Granja PE, Rodríguez-Palomares JF, Cárdenas-Reyes IJ, de la Torre-Carpente MM, Bautista-Pavés A, Akhtar MM, Cicerchia MN, Bilbao-Quesada R, Mogollón-Jimenez MV, Salazar-Mendiguchía J, Mesa Latorre JM, Arnaez B, Olavarri-Miguel I, Fuentes-Cañamero ME, Lamounier A Jr, Pérez Ruiz JM, Climent-Payá V, Pérez-Sanchez I, Trujillo-Quintero JP, Lopes LR, Repáraz-Andrade A, Marín-Iglesias R, Rodriguez-Vilela A, Sandín-Fuentes M, Garrote JA, Cortel-Fuster A, Lopez-Garrido M, Fontalba-Romero A, Ripoll-Vera T, Llano-Rivas I, Fernandez-Fernandez X, Isidoro-García M, Garcia-Giustiniani D, Barriales-Villa R, Ortiz-Genga M, García-Pavía P, Elliott PM, Gimeno JR, Monserrat L. Ochoa JP, et al. Among authors: akhtar mm. J Am Coll Cardiol. 2018 Nov 13;72(20):2457-2467. doi: 10.1016/j.jacc.2018.10.001. J Am Coll Cardiol. 2018. PMID: 30442288 Free article.
Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.
Domínguez F, Cuenca S, Bilińska Z, Toro R, Villard E, Barriales-Villa R, Ochoa JP, Asselbergs F, Sammani A, Franaszczyk M, Akhtar M, Coronado-Albi MJ, Rangel-Sousa D, Rodriguez-Palomares JF, Jiménez-Jáimez J, Garcia-Pinilla JM, Ripoll-Vera T, Mogollón-Jiménez MV, Fontalba-Romero A, Garcia-Medina D, Palomino-Doza J, de Gonzalo-Calvo D, Cicerchia M, Salazar-Mendiguchia J, Salas C, Pankuweit S, Hey TM, Mogensen J, Barton PJ, Charron P, Elliott P, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. Domínguez F, et al. J Am Coll Cardiol. 2018 Nov 13;72(20):2471-2481. doi: 10.1016/j.jacc.2018.08.2181. J Am Coll Cardiol. 2018. PMID: 30442290 Free PMC article.
Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study.
Augusto JB, Eiros R, Nakou E, Moura-Ferreira S, Treibel TA, Captur G, Akhtar MM, Protonotarios A, Gossios TD, Savvatis K, Syrris P, Mohiddin S, Moon JC, Elliott PM, Lopes LR. Augusto JB, et al. Among authors: akhtar mm. Eur Heart J Cardiovasc Imaging. 2020 Mar 1;21(3):326-336. doi: 10.1093/ehjci/jez188. Eur Heart J Cardiovasc Imaging. 2020. PMID: 31317183
Hidden in Heart Failure.
Cannie DE, Akhtar MM, Elliott P. Cannie DE, et al. Among authors: akhtar mm. Eur Cardiol. 2019 Jul 11;14(2):89-96. doi: 10.15420/ecr.2019.19.2. eCollection 2019 Jul. Eur Cardiol. 2019. PMID: 31360229 Free PMC article. Review.
58 results