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In vivo RyR1 reduction in muscle triggers a core-like myopathy.
Pelletier L, Petiot A, Brocard J, Giannesini B, Giovannini D, Sanchez C, Travard L, Chivet M, Beaufils M, Kutchukian C, Bendahan D, Metzger D, Franzini Armstrong C, Romero NB, Rendu J, Jacquemond V, Fauré J, Marty I. Pelletier L, et al. Among authors: rendu j. Acta Neuropathol Commun. 2020 Nov 11;8(1):192. doi: 10.1186/s40478-020-01068-4. Acta Neuropathol Commun. 2020. PMID: 33176865 Free PMC article.
Role of triadin in the organization of reticulum membrane at the muscle triad.
Fourest-Lieuvin A, Rendu J, Osseni A, Pernet-Gallay K, Rossi D, Oddoux S, Brocard J, Sorrentino V, Marty I, Fauré J. Fourest-Lieuvin A, et al. Among authors: rendu j. J Cell Sci. 2012 Jul 15;125(Pt 14):3443-53. doi: 10.1242/jcs.100958. Epub 2012 Apr 14. J Cell Sci. 2012. PMID: 22505613
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Böhm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforêt P, Maisonobe T, Olivé M, Gonzalez-Mera L, Fardeau M, Carrière N, Clavelou P, Eymard B, Bitoun M, Rendu J, Fauré J, Weis J, Mandel JL, Romero NB, Laporte J. Böhm J, et al. Among authors: rendu j. Brain. 2014 Dec;137(Pt 12):3160-70. doi: 10.1093/brain/awu272. Epub 2014 Sep 25. Brain. 2014. PMID: 25260562
Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test.
Roux-Buisson N, Monnier N, Sagui E, Abriat A, Brosset C, Bendahan D, Kozak-Ribbens G, Gazzola S, Quesada JL, Foutrier-Morello C, Rendu J, Figarella-Branger D, Cozonne P, Aubert M, Bourdon L, Lunardi J, Fauré J. Roux-Buisson N, et al. Among authors: rendu j. Br J Anaesth. 2016 Apr;116(4):566-8. doi: 10.1093/bja/aew047. Br J Anaesth. 2016. PMID: 26994242 Free article. No abstract available.
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot MC, Guichet A, Allamand V, Vadrot N, Fauré J, Odent S, Lazaro L, Leroy JP, Marcorelles P, Dubourg O, Ferreiro A. Davignon L, et al. Among authors: rendu j. Hum Mol Genet. 2016 Apr 15;25(8):1559-73. doi: 10.1093/hmg/ddw033. Epub 2016 Feb 9. Hum Mol Genet. 2016. PMID: 27008887
67 results