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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: marty i. 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.
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J. Monnier N, et al. Among authors: marty i. Hum Mutat. 2008 May;29(5):670-8. doi: 10.1002/humu.20696. Hum Mutat. 2008. PMID: 18253926
[Ryanodine receptor type 1: redox state matters].
Lunardi J, Fauré J, Marty I, Monnier N. Lunardi J, et al. Among authors: marty i. Med Sci (Paris). 2008 Nov;24(11):897-9. doi: 10.1051/medsci/20082411897. Med Sci (Paris). 2008. PMID: 19038082 Free article. French. No abstract available.
Triadin: what possible function 20 years later?
Marty I, Fauré J, Fourest-Lieuvin A, Vassilopoulos S, Oddoux S, Brocard J. Marty I, et al. J Physiol. 2009 Jul 1;587(Pt 13):3117-21. doi: 10.1113/jphysiol.2009.171892. Epub 2009 Apr 29. J Physiol. 2009. PMID: 19403623 Free PMC article. Review.
97 results