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De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.
Kiselev A, Vaz R, Knyazeva A, Khudiakov A, Tarnovskaya S, Liu J, Sergushichev A, Kazakov S, Frishman D, Smolina N, Pervunina T, Jorholt J, Sjoberg G, Vershinina T, Rudenko D, Arner A, Sejersen T, Lindstrand A, Kostareva A. Kiselev A, et al. Among authors: pervunina t. Hum Mutat. 2018 Sep;39(9):1161-1172. doi: 10.1002/humu.23559. Epub 2018 Jun 17. Hum Mutat. 2018. PMID: 29858533
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing.
Kostareva A, Kiselev A, Gudkova A, Frishman G, Ruepp A, Frishman D, Smolina N, Tarnovskaya S, Nilsson D, Zlotina A, Khodyuchenko T, Vershinina T, Pervunina T, Klyushina A, Kozlenok A, Sjoberg G, Golovljova I, Sejersen T, Shlyakhto E. Kostareva A, et al. Among authors: pervunina t. PLoS One. 2016 Sep 23;11(9):e0163362. doi: 10.1371/journal.pone.0163362. eCollection 2016. PLoS One. 2016. PMID: 27662471 Free PMC article.
Sodium current abnormalities and deregulation of Wnt/β-catenin signaling in iPSC-derived cardiomyocytes generated from patient with arrhythmogenic cardiomyopathy harboring compound genetic variants in plakophilin 2 gene.
Khudiakov A, Zaytseva A, Perepelina K, Smolina N, Pervunina T, Vasichkina E, Karpushev A, Tomilin A, Malashicheva A, Kostareva A. Khudiakov A, et al. Among authors: pervunina t. Biochim Biophys Acta Mol Basis Dis. 2020 Nov 1;1866(11):165915. doi: 10.1016/j.bbadis.2020.165915. Epub 2020 Aug 6. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32768677 Free article.
37 results