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Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M, González-Hormazábal P, Abaji M, Courrier S, Puppo F, Mathieu Y, Trangulao A, Earle N, Castiglioni C, Díaz J, Campero M, Hughes R, Vargas C, Cortés R, Kleinsteuber K, Acosta I, Urtizberea JA, Lévy N, Bartoli M, Krahn M, Jara L, Caviedes P, Gorokhova S, Bevilacqua JA. Cerino M, et al. Among authors: caviedes p. Genes (Basel). 2022 Jun 16;13(6):1076. doi: 10.3390/genes13061076. Genes (Basel). 2022. PMID: 35741838 Free PMC article.
Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation.
Fernández G, Arias-Bravo G, Bevilacqua JA, Castillo-Ruiz M, Caviedes P, Sáez JC, Cea LA. Fernández G, et al. Among authors: caviedes p. Biochim Biophys Acta Mol Basis Dis. 2020 Aug 1;1866(8):165800. doi: 10.1016/j.bbadis.2020.165800. Epub 2020 Apr 16. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32305450 Free article.
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.
González-Jamett AM, Baez-Matus X, Olivares MJ, Hinostroza F, Guerra-Fernández MJ, Vasquez-Navarrete J, Bui MT, Guicheney P, Romero NB, Bevilacqua JA, Bitoun M, Caviedes P, Cárdenas AM. González-Jamett AM, et al. Among authors: caviedes p. Sci Rep. 2017 Jul 4;7(1):4580. doi: 10.1038/s41598-017-04418-w. Sci Rep. 2017. PMID: 28676641 Free PMC article.
77 results