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Abnormal distribution of inositol 1,4,5-trisphosphate receptors in human muscle can be related to altered calcium signals and gene expression in Duchenne dystrophy-derived cells.
Cárdenas C, Juretić N, Bevilacqua JA, García IE, Figueroa R, Hartley R, Taratuto AL, Gejman R, Riveros N, Molgó J, Jaimovich E. Cárdenas C, et al. Among authors: bevilacqua ja. FASEB J. 2010 Sep;24(9):3210-21. doi: 10.1096/fj.09-152017. Epub 2010 Apr 15. FASEB J. 2010. PMID: 20395455
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB. Garibaldi M, et al. Among authors: bevilacqua ja. Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. Acta Neuropathol Commun. 2019. PMID: 30611313 Free PMC article.
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Bitoun M, Bevilacqua JA, Prudhon B, Maugenre S, Taratuto AL, Monges S, Lubieniecki F, Cances C, Uro-Coste E, Mayer M, Fardeau M, Romero NB, Guicheney P. Bitoun M, et al. Among authors: bevilacqua ja. Ann Neurol. 2007 Dec;62(6):666-70. doi: 10.1002/ana.21235. Ann Neurol. 2007. PMID: 17932957
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.
Bevilacqua JA, Monnier N, Bitoun M, Eymard B, Ferreiro A, Monges S, Lubieniecki F, Taratuto AL, Laquerrière A, Claeys KG, Marty I, Fardeau M, Guicheney P, Lunardi J, Romero NB. Bevilacqua JA, et al. Neuropathol Appl Neurobiol. 2011 Apr;37(3):271-84. doi: 10.1111/j.1365-2990.2010.01149.x. Neuropathol Appl Neurobiol. 2011. PMID: 21062345 Free 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: bevilacqua ja. 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: bevilacqua ja. Sci Rep. 2017 Jul 4;7(1):4580. doi: 10.1038/s41598-017-04418-w. Sci Rep. 2017. PMID: 28676641 Free PMC article.
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