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A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ, Vanhoutte EK, Claes GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemaekers YM, Marcelis C, Kempers M, Brusse E, van Waning JI, Baas AF, Dooijes D, Asselbergs FW, Barge-Schaapveld DQCM, Koopman P, van den Wijngaard A, Heymans SRB, Krapels IPC, Brunner HG. Verdonschot JAJ, et al. Hum Mutat. 2020 Jun;41(6):1091-1111. doi: 10.1002/humu.24004. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32112656 Free PMC article. Review.
Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias.
Verdonschot JAJ, Hazebroek MR, Derks KWJ, Barandiarán Aizpurua A, Merken JJ, Wang P, Bierau J, van den Wijngaard A, Schalla SM, Abdul Hamid MA, van Bilsen M, van Empel VPM, Knackstedt C, Brunner-La Rocca HP, Brunner HG, Krapels IPC, Heymans SRB. Verdonschot JAJ, et al. Eur Heart J. 2018 Mar 7;39(10):864-873. doi: 10.1093/eurheartj/ehx808. Eur Heart J. 2018. PMID: 29377983
Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy.
Hazebroek MR, Krapels I, Verdonschot J, van den Wijngaard A, Vanhoutte E, Hoos M, Snijders L, van Montfort L, Witjens M, Dennert R, Crijns HJGM, Brunner-La Rocca HP, Brunner HG, Heymans S. Hazebroek MR, et al. Circ Heart Fail. 2018 Mar;11(3):e004682. doi: 10.1161/CIRCHEARTFAILURE.117.004682. Circ Heart Fail. 2018. PMID: 29540472
Value of Speckle Tracking-Based Deformation Analysis in Screening Relatives of Patients With Asymptomatic Dilated Cardiomyopathy.
Verdonschot JAJ, Merken JJ, Brunner-La Rocca HP, Hazebroek MR, Eurlings CGMJ, Thijssen E, Wang P, Weerts J, van Empel V, Schummers G, Schreckenberg M, van den Wijngaard A, Lumens J, Brunner HG, Heymans SRB, Krapels IPC, Knackstedt C. Verdonschot JAJ, et al. JACC Cardiovasc Imaging. 2020 Feb;13(2 Pt 2):549-558. doi: 10.1016/j.jcmg.2019.02.032. Epub 2019 Jun 12. JACC Cardiovasc Imaging. 2020. PMID: 31202754 Free article.
Metabolic Profiling Associates with Disease Severity in Nonischemic Dilated Cardiomyopathy.
Verdonschot JAJ, Wang P, Van Bilsen M, Hazebroek MR, Merken JJ, Vanhoutte EK, Henkens MTHM, Van Den Wijngaard A, Glatz JFC, Krapels IPC, Brunner HG, Heymans SRB, Bierau J. Verdonschot JAJ, et al. J Card Fail. 2020 Mar;26(3):212-222. doi: 10.1016/j.cardfail.2019.09.004. Epub 2019 Sep 18. J Card Fail. 2020. PMID: 31541741 Free article.
89 results