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Huntingtin regulates calcium fluxes in skeletal muscle.
Chivet M, McCluskey M, Nicot AS, Brocard J, Beaufils M, Giovannini D, Giannesini B, Poreau B, Brocard J, Humbert S, Saudou F, Fauré J, Marty I. Chivet M, et al. Among authors: faure j. J Gen Physiol. 2023 Jan 2;155(1):e202213103. doi: 10.1085/jgp.202213103. Epub 2022 Nov 21. J Gen Physiol. 2023. PMID: 36409218 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: faure j. 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: faure j. 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. Among authors: faure j. 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.
Triadin deletion induces impaired skeletal muscle function.
Oddoux S, Brocard J, Schweitzer A, Szentesi P, Giannesini B, Brocard J, Fauré J, Pernet-Gallay K, Bendahan D, Lunardi J, Csernoch L, Marty I. Oddoux S, et al. Among authors: faure j. J Biol Chem. 2009 Dec 11;284(50):34918-29. doi: 10.1074/jbc.M109.022442. Epub 2009 Oct 19. J Biol Chem. 2009. PMID: 19843516 Free PMC article.
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, Durand P, Guicheney P, Kyndt F, Leenhardt A, Le Marec H, Lucet V, Mabo P, Probst V, Monnier N, Ray PF, Santoni E, Trémeaux P, Lacampagne A, Fauré J, Lunardi J, Marty I. Roux-Buisson N, et al. Among authors: faure j. Hum Mol Genet. 2012 Jun 15;21(12):2759-67. doi: 10.1093/hmg/dds104. Epub 2012 Mar 14. Hum Mol Genet. 2012. PMID: 22422768 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: faure 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
Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.
Rendu J, Brocard J, Denarier E, Monnier N, Piétri-Rouxel F, Beley C, Roux-Buisson N, Gilbert-Dussardier B, Perez MJ, Romero N, Garcia L, Lunardi J, Fauré J, Fourest-Lieuvin A, Marty I. Rendu J, et al. Among authors: faure j. Hum Gene Ther. 2013 Jul;24(7):702-13. doi: 10.1089/hum.2013.052. Hum Gene Ther. 2013. PMID: 23805838 Free PMC article.
1,289 results