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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: lorenzini m. Eur Heart J. 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424. Eur Heart J. 2021. PMID: 34263907 Free PMC article.
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.
Rapezzi C, Quarta CC, Obici L, Perfetto F, Longhi S, Salvi F, Biagini E, Lorenzini M, Grigioni F, Leone O, Cappelli F, Palladini G, Rimessi P, Ferlini A, Arpesella G, Pinna AD, Merlini G, Perlini S. Rapezzi C, et al. Among authors: lorenzini m. Eur Heart J. 2013 Feb;34(7):520-8. doi: 10.1093/eurheartj/ehs123. Epub 2012 Jun 28. Eur Heart J. 2013. PMID: 22745357
Clinical characteristics of wild-type transthyretin cardiac amyloidosis: disproving myths.
González-López E, Gagliardi C, Dominguez F, Quarta CC, de Haro-Del Moral FJ, Milandri A, Salas C, Cinelli M, Cobo-Marcos M, Lorenzini M, Lara-Pezzi E, Foffi S, Alonso-Pulpon L, Rapezzi C, Garcia-Pavia P. González-López E, et al. Among authors: lorenzini m. Eur Heart J. 2017 Jun 21;38(24):1895-1904. doi: 10.1093/eurheartj/ehx043. Eur Heart J. 2017. PMID: 28329248
Isolated aortic root dilation in homocystinuria.
Lorenzini M, Guha N, Davison JE, Pitcher A, Pandya B, Kemp H, Lachmann R, Elliott PM, Murphy E. Lorenzini M, et al. J Inherit Metab Dis. 2018 Jan;41(1):109-115. doi: 10.1007/s10545-017-0094-7. Epub 2017 Oct 4. J Inherit Metab Dis. 2018. PMID: 28980096 Free PMC article.
Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure.
Gagliardi C, Perfetto F, Lorenzini M, Ferlini A, Salvi F, Milandri A, Quarta CC, Taborchi G, Bartolini S, Frusconi S, Martone R, Cinelli MM, Foffi S, Reggiani MLB, Fabbri G, Cataldo P, Cappelli F, Rapezzi C. Gagliardi C, et al. Among authors: lorenzini m. Eur J Heart Fail. 2018 Oct;20(10):1417-1425. doi: 10.1002/ejhf.1285. Epub 2018 Aug 2. Eur J Heart Fail. 2018. PMID: 30070416 Free article.
Mortality Among Referral Patients With Hypertrophic Cardiomyopathy vs the General European Population.
Lorenzini M, Anastasiou Z, O'Mahony C, Guttman OP, Gimeno JR, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Garcia-Pavia P, Limongelli G, Pavlou M, Elliott PM; Hypertrophic Cardiomyopathy Outcomes investigators. Lorenzini M, et al. JAMA Cardiol. 2020 Jan 1;5(1):73-80. doi: 10.1001/jamacardio.2019.4534. JAMA Cardiol. 2020. PMID: 31774458 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: lorenzini m. 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.
185 results