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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: ashworth 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.
Proteomic Analysis of the Myocardium in Hypertrophic Obstructive Cardiomyopathy.
Coats CJ, Heywood WE, Virasami A, Ashrafi N, Syrris P, Dos Remedios C, Treibel TA, Moon JC, Lopes LR, McGregor CGA, Ashworth M, Sebire NJ, McKenna WJ, Mills K, Elliott PM. Coats CJ, et al. Among authors: ashworth m. Circ Genom Precis Med. 2018 Dec;11(12):e001974. doi: 10.1161/CIRCGEN.117.001974. Circ Genom Precis Med. 2018. PMID: 30562113
Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy.
Kaski JP, Syrris P, Shaw A, Alapi KZ, Cordeddu V, Esteban MT, Jenkins S, Ashworth M, Hammond P, Tartaglia M, McKenna WJ, Elliott PM. Kaski JP, et al. Among authors: ashworth m. Circ Cardiovasc Genet. 2012 Jun;5(3):317-26. doi: 10.1161/CIRCGENETICS.111.960468. Epub 2012 May 15. Circ Cardiovasc Genet. 2012. PMID: 22589294
The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic Cardiomyopathy.
Protonotarios A, Brodehl A, Asimaki A, Jager J, Quinn E, Stanasiuk C, Ratnavadivel S, Futema M, Akhtar MM, Gossios TD, Ashworth M, Savvatis K, Walhorn V, Anselmetti D, Elliott PM, Syrris P, Milting H, Lopes LR. Protonotarios A, et al. Among authors: ashworth m. Can J Cardiol. 2021 Jun;37(6):857-866. doi: 10.1016/j.cjca.2020.11.017. Epub 2020 Dec 5. Can J Cardiol. 2021. PMID: 33290826
605 results