OUR RESEARCH PROJECTS

Latest publications

Our scientific and clinical experts regularly take part in research projects that give rise to articles in leading scientific journals. These publications are drawn from PubMed® and Web of Science® (Myodoc, AFM-Téléthon)

556 publications

  1. Gerard, L., Delourme, M., Tardy, C., Ganne, B., Perrin, P., Chaix, C., Trani, J. P., Eudes, N., Laberthonniere, C., Bertaux, K., Missirian, C., Bassez, G., Behin, A., Cintas, P., Cluse, F., De La Cruz, E., Delmont, E., Evangelista, T., Fradin, M., … Magdinier, F. (2024). SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance. European journal of human genetics : EJHG, Epub. https://doi.org/10.1038/s41431-024-01781-x

  2. d'Agata, L., Rassinoux, P., Gounou, C., Bouvet, F., Bouragba, D., Mamchaoui, K., & Bouter, A. (2024). A Novel Assay Reveals the Early Setting-Up of Membrane Repair Machinery in Human Skeletal Muscle Cells. Journal of cellular biochemistry, Epub, e30662. https://doi.org/10.1002/jcb.30662

  3. Launay, N., Espinosa-Alcantud, M., Verdura, E., Fernandez-Eulate, G., Ondaro, J., Iruzubieta, P., Marsal, M., Schluter, A., Ruiz, M., Fourcade, S., Rodriguez-Palmero, A., Zulaica, M., Sistiaga, A., Labayru, G., Loza-Alvarez, P., Vaquero, A., Lopez de Munain, A., & Pujol, A. (2025). Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia. Aging cell. https://doi.org/10.1111/acel.14355

  4. Prigogine, C., Ruiz, J. M., Cebolla, A. M., Deconinck, N., Servais, L., Gailly, P., Dan, B., & Chéron, G. (2024). Cerebellar dysfunction in the mdx mouse model of Duchenne muscular dystrophy: An electrophysiological and behavioural study. The European journal of neuroscience. https://doi.org/10.1111/ejn.16566

  5. Grandi, F., Astord, S., Pezet, S., Gidaja, E., Mazzucchi, S., Chapart, M., Vasseur, S., Mamchaoui, K., & Smeriglio, P. (2024). Characterization of SMA Type II Skeletal Muscle from Treated Patients shows Mitochondrial Deficiency and Denervation. JCI insight. https://doi.org/10.1172/jci.insight.180992

  6. Fontaine Carbonnel, S., Dabaj, I., de Montferrand, C., Rippert, P., Laugel, V., De Lucia, S., Ravelli, C., Seferian, A., Ropars, J., & Cances, C. (2024). Choice of compound, dosage, and management of side effects for long-term corticosteroid treatment in Duchenne muscular dystrophy: Guidelines from the Neuromuscular Commission of the French Society of Pediatric Neurology. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, Epub. https://doi.org/10.1016/j.arcped.2024.05.003

  7. Lemoine, J., Dubois, A., Dorval, A., Jaber, A., Warthi, G., Mamchaoui, K., Wang, T., Corre, G., Bovolenta, M., & Richard, I. (2024). Correction of exon 2, exon 2-9 and exons 8-9 duplications in DMD patient myogenic cells by a single CRISPR/Cas9 system. Scientific Reports, 14(1). https://doi.org/10.1038/s41598-024-70075-5

  8. Poyatos-García, J., Soblechero-Martin, P., Liquori, A., Lopez-Martinez, A., Maestre, P., González-Romero, E., Vázquez-Manrique, R. P., Muelas, N., García-García, G., Ohana, J., Arechavala-Gomeza, V., & Vilchez, J. J. (2024). Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model. Skeletal Muscle, 14(1), 21. https://doi.org/10.1186/s13395-024-00353-3

  9. Cardoso, D., Guilbert, S., Guigue, P., Carabalona, A., Harhouri, K., Peccate, C., Tournois, J., Guesmia, Z., Ferreira, L., Bartoli, C., Levy, N., Colleaux, L., Nissan, X., & Muchir, A. (2024). Inhibition of poly(ADP-Ribosyl)ation reduced vascular smooth muscle cells loss and improves aortic disease in a mouse model of human accelerated aging syndrome. Cell death & disease, 15(10), 723. https://doi.org/10.1038/s41419-024-07078-7

  10. Mariscal, A., Martinez, C., Goethals, L., Cortés-Vicente, E., Moltó, E., Juarez, C., Barneda-Zahonero, B., Querol, L., Le Panse, R., & Gallardo, E. (2024). Modified radioimmunoassay versus ELISA to quantify anti-acetylcholine receptor antibodies in a mouse model of myasthenia gravis. Journal of immunological methods, 534. https://doi.org/10.1016/j.jim.2024.113748

  11. Bahout, M., Severa, G., Kamoun, E., Bouhour, F., Pégat, A., Toutain, A., Lagrange, E., Duval, F., Tard, C., De La Cruz, E., Féasson, L., Jacquin-Piques, A., Richard, P., Metay, C., Cavalli, M., Romero, N. B., Evangelista, T., Sole, G., Carlier, R. Y., … Villar-Quiles, R. N. (2024). MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort. Journal of neurology, neurosurgery, and psychiatry. https://doi.org/10.1136/jnnp-2024-334263

  12. Cervia, D., Zecchini, S., Pincigher, L., Roux-Biejat, P., Zalambani, C., Catalani, E., Arcari, A., Del Quondam, S., Brunetti, K., Ottria, R., Casati, S., Vanetti, C., Barbalace, M. C., Prata, C., Malaguti, M., Casati, S. R., Lociuro, L., Giovarelli, M., Mocciaro, E., … Perrotta, C. (2024). Oral administration of plumbagin is beneficial in in vivo models of Duchenne muscular dystrophy through control of redox signaling. Free radical biology & medicine, 225(Epub), 193. https://doi.org/10.1016/j.freeradbiomed.2024.09.037

  13. Taglietti, V., Kefi, K., Mirciloglu, B., Bastu, S., Masson, J. D., Bronisz-Budzynska, I., Gouni, V., Ferri, C., Jorge, A., Gentil, C., Pietri-Rouxel, F., Malfatti, E., Lafuste, P., Tiret, L., & Relaix, F. (2024). Progressive cardiomyopathy with intercalated disc disorganization in a rat model of Becker dystrophy. EMBO reports, Epub. https://doi.org/10.1038/s44319-024-00249-9

  14. Vicart, S., Wahbi, K., Duchateau, J., Sellal, J. M., Desaphy, J. F., Deharo, J. C., Bassez, G., Salort-Campana, E., & Labombarda, F. (2024). Recommendations of an expert group for the cardiac assessment of non-dystrophic myotonia adult patients treated with mexiletine. Neuromuscular disorders : NMD, 44(Epub), 104464. https://doi.org/10.1016/j.nmd.2024.104464

  15. Conrad, L. J., Grandi, F. C., Carlton, A. J., Jeng, J. Y., De Tomasi, L., Zarecki, P., Marcotti, W., Johnson, S. L., & Mustapha, M. (2024). The upregulation of K+ and HCN channels in developing spiral ganglion neurons is mediated by cochlear inner hair cells. The Journal of physiology, Epub. https://doi.org/10.1113/JP286134

  16. Cortese, A., Beecroft, S. J., Facchini, S., Currò, R., Cabrera-Serrano, M., Stevanovski, I., Chintalaphani, S. R., Gamaarachchi, H., Weisburd, B., Folland, C., Monahan, G., Scriba, C. K., Dofash, L., Johari, M., Grosz, B. R., Ellis, M., Fearnley, L. G., Tankard, R., Read, J., … Ravenscroft, G. (2024). A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. Nature communications, 15(1), 6327. https://doi.org/10.1038/s41467-024-49950-2

  17. Panos-Basterra, P., Theuriet, J., Nadaj-Pakleza, A., Magot, A., Lannes, B., Marcorelles, P., Behin, A., Masingue, M., Caillon, F., Malek, Y., Fenouil, T., Bas, J., Menassa, R., Michel-Calemard, L., Streichenberger, N., Simon, J. P., Bouhour, F., Evangelista, T., Metay, C., … Fernandez-Eulate, G. (2024). Defining the landscape of TIA1 and SQSTM1 digenic myopathy. Neuromuscular disorders : NMD, 42. https://doi.org/10.1016/j.nmd.2024.07.008

  18. Boulinguiez, A., Dhiab, J., Crisol, B., Muraine, L., Gaut, L., Rouxel, C., Flaire, J., Mouigni, H. R., Lemaitre, M., Giroux, B., Audoux, L., SaintPierre, B., Ferry, A., Mouly, V., Butler-Browne, G., Negroni, E., Malerba, A., & Trollet, C. (2024). Different outcomes of endurance and resistance exercise in skeletal muscles of Oculopharyngeal muscular dystrophy. Journal of cachexia, sarcopenia and muscle, Epub. https://doi.org/10.1002/jcsm.13546

  19. Rich, J., Bennaroch, M., Notel, L., Patalakh, P., Alberola, J., Issa, F., Opolon, P., Bawa, O., Rondof, W., Marchais, A., Dessen, P., Meurice, G., Le-Gall, M., Polrot, M., Ser-Le Roux, K., Mamchaoui, K., Droin, N., Raslova, H., Maire, P., … Pirozhkova, I. (2024). DiPRO1 distinctly reprograms muscle and mesenchymal cancer cells. EMBO Molecular Medicine. https://doi.org/10.1038/s44321-024-00097-z

  20. Sapaly, D., Cheguillaume, F., Weill, L., Clerc, Z., Biondi, O., Bendris, S., Buon, C., Slika, R., Piller, E., Sundaram, V. K., da Silva Ramos, A., Amador, M. D. M., Lenglet, T., Debs, R., Le Forestier, N., Pradat, P. F., Salachas, F., Lacomblez, L., Hesters, A., … Bruneteau, G. (2024). Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosis. Brain : a journal of neurology, Epub. https://doi.org/10.1093/brain/awae270