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Corrigendum to "22nd International Congress of the World Muscle Society, Saint Malo, France, 3rd-7th October 2017" [Neuromuscular Disorders 27S2 (2017) S51-S270].
Rendu J, Bosson C, Roux-Buisson N, Chatagnon A, Bankole B, Rivier F, Durigneux J, Monges S, Stojkovic T, Romero N, Marty I, Fauré J. Rendu J, et al. Among authors: marty i. Neuromuscul Disord. 2017 Nov;27(11):e1. doi: 10.1016/j.nmd.2017.09.014. Epub 2017 Oct 21. Neuromuscul Disord. 2017. PMID: 29033277 No abstract available.
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
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.
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. Among authors: marty i. 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.
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: marty i. 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: marty i. 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
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Dieterich K, Quijano-Roy S, Monnier N, Zhou J, Fauré J, Smirnow DA, Carlier R, Laroche C, Marcorelles P, Mercier S, Mégarbané A, Odent S, Romero N, Sternberg D, Marty I, Estournet B, Jouk PS, Melki J, Lunardi J. Dieterich K, et al. Among authors: marty i. Hum Mol Genet. 2013 Apr 15;22(8):1483-92. doi: 10.1093/hmg/dds514. Epub 2012 Dec 11. Hum Mol Genet. 2013. PMID: 23236030
99 results