Renée Maas

194 Chapter 7 53: Stroik DR, Ceholski DK, Bidwell PA, Mleczko J, Thanel PF, Kamdar F, Autry JM, Cornea RL, Thomas DD. Viral expression of a SERCA2a-activating PLB mutant improves calcium cycling and synchronicity in dilated cardiomyopathic hiPSC-CMs. J Mol Cell Cardiol. 2020 Jan;138:59-65. doi: 10.1016/j.yjmcc.2019.11.147. Epub 2019 Nov 18. PMID: 31751570; PMCID: PMC7035975. 54: Doevendans PA, Glijnis PC, Kranias EG. Leducq Transatlantic Network of Excellence to Cure Phospholamban-Induced Cardiomyopathy (CURE-PLaN). Circ Res. 2019 Sep 13;125(7):720-724. doi: 10.1161/CIRCRESAHA.119.315077. Epub 2019 Sep 12. PMID: 31513489. 55: Cheung CC, Healey JS, Hamilton R, Spears D, Gollob MH, Mellor G, Steinberg C, Sanatani S, Laksman ZW, Krahn AD. Phospholamban cardiomyopathy: a Canadian perspective on a unique population. Neth Heart J. 2019 Apr;27(4):208-213. doi: 1007/s12471-019-1247-0. PMID: 30806910; PMCID: PMC6439019. 56: Te Rijdt WP, Asimaki A, Jongbloed JDH, Hoorntje ET, Lazzarini E, van der Zwaag PA, de Boer RA, van Tintelen JP, Saffitz JE, van den Berg MP, Suurmeijer AJH. Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathy. Cardiovasc Pathol. 2019 May-Jun;40:2-6. doi: 10.1016/j. carpath.2018.12.006. Epub 2018 Dec 21. PMID: 30763825. 57: Hof IE, van der Heijden JF, Kranias EG, Sanoudou D, de Boer RA, van Tintelen JP, van der Zwaag PA, Doevendans PA. Prevalence and cardiac phenotype of patients with a phospholamban mutation. Neth Heart J. 2019 Feb;27(2):64-69. doi:10.1007/s12471-018-1211-4. PMID: 30547415; PMCID: PMC6352623. 58: Nannenberg EA, van Rijsingen IAW, van der Zwaag PA, van den Berg MP, van Tintelen JP, Tanck MWT, Ackerman MJ, Wilde AAM, Christiaans I. Effect of Ascertainment Bias on Estimates of Patient Mortality in Inherited Cardiac Diseases. Circ Genom Precis Med. 2018 Oct;11(10):e001797. doi: 10.1161/ CIRCGEN.117.001797. PMID: 30354299. 59: Te Rijdt WP, Ten Sande JN, Gorter TM, van der Zwaag PA, van Rijsingen IA, Boekholdt SM, van Tintelen JP, van Haelst PL, Planken RN, de Boer RA, Suurmeijer AJH, van Veldhuisen DJ, Wilde AAM, Willems TP, van Dessel PFHM, van den Berg MP. Myocardial fibrosis as an early feature in phospholamban p.Arg14del mutation carriers: phenotypic insights from cardiovascular magnetic resonance imaging. Eur Heart J Cardiovasc Imaging. 2019 Jan 1;20(1):92-100. doi: 10.1093/ehjci/jey047. PMID: 29635323. 60: Te Rijdt WP, van der Klooster ZJ, Hoorntje ET, Jongbloed JDH, van der Zwaag PA, Asselbergs FW, Dooijes D, de Boer RA, van Tintelen JP, van den Berg MP, Vink A, Suurmeijer AJH. Phospholamban immunostaining is a highly sensitive and specific method for diagnosing phospholamban p.Arg14del cardiomyopathy. Cardiovasc Pathol. 2017 Sep-Oct;30:23-26. doi: 10.1016/j.carpath.2017.05.004. Epub 2017 May 30. PMID: 28759816. 61: Sepehrkhouy S, Gho JMIH, van Es R, Harakalova M, de Jonge N, Dooijes D, van der Smagt JJ, Buijsrogge MP, Hauer RNW, Goldschmeding R, de Weger RA, Asselbergs FW, Vink A. Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies. Heart Rhythm. 2017 Jul;14(7):1024-1032. doi: 10.1016/j.hrthm.2017.03.034. Epub 2017 Mar 30. PMID: 28365402. 62: van Opbergen CJ, Delmar M, van Veen TA. Potential new mechanisms of pro-arrhythmia in arrhythmogenic cardiomyopathy: focus on calcium sensitive pathways. Neth Heart J. 2017 Mar;25(3):157169. doi: 10.1007/s12471-017-0946-7. PMID: 28102477; PMCID: PMC5313453. 63: Stillitano F, Turnbull IC, Karakikes I, Nonnenmacher M, Backeris P, Hulot JS, Kranias EG, Hajjar RJ, Costa KD. Genomic correction of familial cardiomyopathy in human engineered cardiac tissues. Eur Heart J. 2016 Nov 14;37(43):3282-3284. doi: 10.1093/eurheartj/ehw307. Epub 2016 Jul 22. PMID:27450564; PMCID: PMC6425468. 64: Te Rijdt WP, van Tintelen JP, Vink A, van der Wal AC, de Boer RA, van den Berg MP, Suurmeijer AJ. Phospholamban p.Arg14del cardiomyopathy is characterized by phospholamban aggregates, aggresomes, and autophagic degradation. Histopathology. 2016 Oct;69(4):542-50. doi: 10.1111/ his.12963. Epub 2016 May 12. PMID: 26970417. 65: Milano A, Blom MT, Lodder EM, van Hoeijen DA, Barc J, Koopmann TT, Bardai A, Beekman L, Lichtner P, van den Berg MP, Wilde AA, Bezzina CR, Tan HL. Sudden Cardiac Arrest and Rare Genetic Variants in the Community. Circ Cardiovasc Genet. 2016 Apr;9(2):147-53. doi: 10.1161/CIRCGENETICS.115.001263. Epub 2016 Jan 22. PMID: 26800703.

RkJQdWJsaXNoZXIy MTk4NDMw