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Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.
Kiselev A, Vaz R, Knyazeva A, Sergushichev A, Dmitrieva R, Khudiakov A, Jorholt J, Smolina N, Sukhareva K, Fomicheva Y, Mikhaylov E, Mitrofanova L, Predeus A, Sjoberg G, Rudenko D, Sejersen T, Lindstrand A, Kostareva A. Kiselev A, et al. Among authors: khudiakov a. Front Genet. 2019 Jun 26;10:608. doi: 10.3389/fgene.2019.00608. eCollection 2019. Front Genet. 2019. PMID: 31297131 Free PMC article.
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: khudiakov a. Hum Mutat. 2018 Sep;39(9):1161-1172. doi: 10.1002/humu.23559. Epub 2018 Jun 17. Hum Mutat. 2018. PMID: 29858533
Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro.
Perepelina K, Klauzen P, Khudiakov A, Zlotina A, Fomicheva Y, Rudenko D, Gordeev M, Sergushichev A, Malashicheva A, Kostareva A. Perepelina K, et al. Among authors: khudiakov a. Stem Cell Res. 2020 Mar;43:101714. doi: 10.1016/j.scr.2020.101714. Epub 2020 Jan 31. Stem Cell Res. 2020. PMID: 32059175 Free article.
Desmin mutations result in mitochondrial dysfunction regardless of their aggregation properties.
Smolina N, Khudiakov A, Knyazeva A, Zlotina A, Sukhareva K, Kondratov K, Gogvadze V, Zhivotovsky B, Sejersen T, Kostareva A. Smolina N, et al. Among authors: khudiakov a. Biochim Biophys Acta Mol Basis Dis. 2020 Jun 1;1866(6):165745. doi: 10.1016/j.bbadis.2020.165745. Epub 2020 Feb 25. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32105824 Free article.
Generation of two iPSC lines (FAMRCi007-A and FAMRCi007-B) from patient with Emery-Dreifuss muscular dystrophy and heart rhythm abnormalities carrying genetic variant LMNA p.Arg249Gln.
Perepelina K, Kostina A, Klauzen P, Khudiakov A, Rabino M, Crasto S, Zlotina A, Fomicheva Y, Sergushichev A, Oganesian M, Dmitriev A, Kostareva A, Di Pasquale E, Malashicheva A. Perepelina K, et al. Among authors: khudiakov a. Stem Cell Res. 2020 Jun 29;47:101895. doi: 10.1016/j.scr.2020.101895. Online ahead of print. Stem Cell Res. 2020. PMID: 32659731 Free article.
46 results