Publications

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, Faure J, Marty I.

Acta Neuropathol. Commun. 2020 Nov 11;8(1):192.

PDF

Variations in the TRPV1 gene are associated to Exertional Heat Stroke.

Bosson C, Rendu J, Pelletier L, Abriat A, Chatagnon A, Brocard J, Brocard J, Figarella-Branger D, Ducreux S, Van Coppenolle F, Sagui E, Marty I, Roux-Buisson N, Faure J. 

Journal of Science and Medicine in Sport (2020) 23(11):1021-1027.

PDF

Dynamics of the calcium release complex protein triadin within sarcoplasmic reticulum subdomains in skeletal muscle cells.

Sébastien M., Aubin P., Brocard J., Brocard J., Marty I., Fauré J.

Molecular Biology of the Cell (2019) 26:mbcE19070399.

PDF

Interplay between triadin and calsequestrin in the pathogenesis of CPVT in mouse.

Cacheux M, Fauconnier J, Thireau J, Osseni A, Brocard J, Roux-Buisson N, Brocard J, Fauré J, Lacampagne A, Marty I.

Molecular Therapy (2020) 28, 171-179.

PDF

'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

Acta Neuropathologica Communications (2019) 7, 3

PDF

Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunction.

Sébastien M, Giannesini B, Aubin P, Brocard J, Chivet M, Pietrangelo L, Boncompagni S, Bosc C, Brocard J, Rendu J, Gory-Fauré S, Andrieux A, Fourest-Lieuvin A, Fauré J, Marty I.

Skeletal Muscle (2018). 8, 30.

PDF

Excitation-contraction coupling alterations in myopathies.

Marty I., Fauré J. 

J. Neuromuscular Diseases (2016) 3, 443-453.

PDF

Triadin and CLIMP-63 form a link between triads and microtubules in muscle cells.

Osseni A., Sébastien M., Sarrault O., Baudet M., Couté Y., Fauré J., Fourest-Lieuvin A., Marty I. 

J. Cell Science (2016) 129, 3744-3755.

PDF

Functional characterization of a Central Core Disease RyR1 mutation (p.Y4864H) associated with quantitative defect in RyR1 protein.

Cacheux M., Blum A., Sébastien M., Wozny A.S., Brocard J., Mamchaoui K., Mouly V., Roux-Buisson N., Rendu J., Monnier N., Krivosic R., Allen P., Lacour A., Lunardi J., Fauré J., Marty I. 

J. Neuromuscular Diseases, (2015) 2: 421–432

PDF

Triadin regulation of the ryanodine receptor complex

Marty I.

J Physiol. (2015) 593:3261-6.

PDF