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POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.
Schindler RF, Scotton C, Zhang J, Passarelli C, Ortiz-Bonnin B, Simrick S, Schwerte T, Poon KL, Fang M, Rinné S, Froese A, Nikolaev VO, Grunert C, Müller T, Tasca G, Sarathchandra P, Drago F, Dallapiccola B, Rapezzi C, Arbustini E, Di Raimo FR, Neri M, Selvatici R, Gualandi F, Fattori F, Pietrangelo A, Li W, Jiang H, Xu X, Bertini E, Decher N, Wang J, Brand T, Ferlini A. Schindler RF, et al. Among authors: rapezzi c. J Clin Invest. 2016 Jan;126(1):239-53. doi: 10.1172/JCI79562. Epub 2015 Dec 7. J Clin Invest. 2016. PMID: 26642364 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: rapezzi c. 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.
Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies.
Milandri A, Farioli A, Gagliardi C, Longhi S, Salvi F, Curti S, Foffi S, Caponetti AG, Lorenzini M, Ferlini A, Rimessi P, Mattioli S, Violante FS, Rapezzi C. Milandri A, et al. Among authors: rapezzi c. Eur J Heart Fail. 2020 Mar;22(3):507-515. doi: 10.1002/ejhf.1742. Epub 2020 Jan 23. Eur J Heart Fail. 2020. PMID: 31975495 Free article.
POPDC2 a novel susceptibility gene for conduction disorders.
Rinné S, Ortiz-Bonnin B, Stallmeyer B, Kiper AK, Fortmüller L, Schindler RFR, Herbort-Brand U, Kabir NS, Dittmann S, Friedrich C, Zumhagen S, Gualandi F, Selvatici R, Rapezzi C, Arbustini E, Ferlini A, Fabritz L, Schulze-Bahr E, Brand T, Decher N. Rinné S, et al. Among authors: rapezzi c. J Mol Cell Cardiol. 2020 Aug;145:74-83. doi: 10.1016/j.yjmcc.2020.06.005. Epub 2020 Jun 11. J Mol Cell Cardiol. 2020. PMID: 32535041
Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients.
Balla C, Conte E, Selvatici R, Marsano RM, Gerbino A, Farnè M, Blunck R, Vitali F, Armaroli A, Brieda A, Liantonio A, De Luca A, Ferlini A, Rapezzi C, Bertini M, Gualandi F, Imbrici P. Balla C, et al. Among authors: rapezzi c. Int J Mol Sci. 2021 Jun 17;22(12):6513. doi: 10.3390/ijms22126513. Int J Mol Sci. 2021. PMID: 34204499 Free PMC article.
501 results