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. Merlet, A. N., Lacene, E., Nelson, I., Brochier, G., Labasse, C., Chanut, A., Madelaine, A., Beuvin, M., Bonne, G., Féasson, L., Minot, M. C., Noury, J. B., Fradin, M., Savarese, M., Fernandez-Eulate, G., Behin, A., Stojkovic, T., Hentschel, A., Marcorelles, P., … Evangelista, T. (2025). Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA). Journal of neuropathology and experimental neurology, Epub. https://doi.org/10.1093/jnen/nlaf134

  2. Fromes, Y. (2025). Extracellular Remodeling, Tissue Fibrosis, and Clinical Translation. Fundamental & Clinical Pharmacology, 39(6), e70055. https://doi.org/10.1111/fcp.70055

  3. Lopez-Marquez, A., Badosa, C., Enjuanes-Ruiz, L., Hernández-Carabias, P., Sánchez-Martín, M., Cadot, B., Guesmia, Z., Georvasilis, I., Balsells, S., Blanco-Ramos, M., Puighermanal, E., Quintana, A., Roldan, M., Allamand, V., & Jimenez-Mallebrera, C. (2026). Generation and characterization of Col6a1 knock-in mice: A promising pre-clinical model for collagen VI-Related dystrophies. Disease models & mechanisms. https://doi.org/10.1242/dmm.052460

  4. Feigean, R., Bachasson, D., & Hogrel, J. Y. (2025). Identifier et modéliser les déterminants de la marche dans les maladies neuromusculaires pour optimiser l’assistance de la fonction dans la vie quotidienne. Medecine sciences : M/S, 41(HS 2), 23. https://doi.org/10.1051/medsci/2025174

  5. Kpalma, G., Bonne, G., Salort-Campana, E., & Wahbi, K. (2025). Journée Cœur-Muscle Filnemus : Améliorer la prise en charge des atteintes cardiaques dans les maladies neuromusculaires. Medecine sciences : M/S, 41(HS 2), 71. https://doi.org/10.1051/medsci/2025176

  6. Muchir, A. (2025). Laminopathies : maladies rares, grands défis : Temps forts du 5e Congrès international des laminopathies. Medecine sciences : M/S, 41(HS 2), 19. https://doi.org/10.1051/medsci/2025183

  7. Landstrom, A. P., & Bonne, G. (2025). LeDucq-funded programme: from pathomechanisms to personalized therapy of cardio-laminopathy. European heart journal, Epub. https://doi.org/10.1093/eurheartj/ehaf821

  8. Vassilopoulos, S., & Vignier, N. (2025). Michel Fardeau, une vie dédiée à la myologie et à ses innovations. Medecine sciences : M/S, 41(HS 2), 82. https://doi.org/10.1051/medsci/2025196

  9. Milliet, K., & Vassilopoulos, S. (2025). Mutations opposées de DNM2 : quand myopathie et neuropathie s’équilibrent. Medecine sciences : M/S, 41(HS 2), 79. https://doi.org/10.1051/medsci/2025222

  10. Lodeiro, A. C., Costas-Abalde, S., Cid-Díaz, T., Debasa-Corral, L., Leal-López, S., Mamchaoui, K., Mouly, V., Casabiell, X., Gallego, R., Relova, J. L., Pazos, Y., Santos-Zas, I., & Camiña, J. P. (2025). Obestatin treatment links mitochondrial homeostasis and skeletal muscle repair in Duchenne muscle dystrophy. Molecular biomedicine, 6(1). https://doi.org/10.1186/s43556-025-00370-8

  11. Polacchini, G., Venerando, A., Bigot, A., & Colitti, M. (2025). Oleuropein Aglycone Modulates Oxidative Stress and Autophagy-Related Pathways in Human Skeletal Muscle Cells. BioFactors (Oxford, England), 51(6), e70058. https://doi.org/10.1002/biof.70058

  12. Dowling, P., Bouragba, D., Negroni, E., Trollet, C., Zweyer, M., Swandulla, D., & Ohlendieck, K. (2025). Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy. Proteomics, Epub, e70073. https://doi.org/10.1002/pmic.70073

  13. Di Feo, M. F., Paramonov, I., Borrel, L. M., Topf, A., Hoischen, A., Beltran, S., Graessner, H., Vissers, L., de Voer, R., van Gijn, M., Balestrini, S., Lerche, H., Lesca, G., Gayathri, S. N., Ellwanger, K., Cossee, M., Perrin, A., Sarkozy, A., Bonne, G., … Udd, B. (2025). The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations. Genetics in medicine : official journal of the American College of Medical Genetics, Epub. https://doi.org/10.1016/j.gim.2025.101649

  14. Crawford, T. O., Servais, L., Mercuri, E., Kolbel, H., Kuntz, N., Finkel, R. S., Krueger, J., Batley, K., Dunaway Young, S., Marantz, J. L., Song, G., Yao, B., Zhao, G., Rossello, J., Tirucherai, G. S., Mazzone, E. S., Butterfield, R. J., Gomez Garcia de la Banda, M., Seferian, A. M., … Darras, B. T. (2025). A plain language summary of the SAPPHIRE clinical trial of apitegromab in children and young adults with spinal muscular atrophy. Expert Review of Neurotherapeutics, Epub. https://doi.org/10.1080/14737175.2025.2579903

  15. Virtanen, L., D'Ercole, C., & Giordani, L. (2025). Across the space: applications of spatial transcriptomic technology in healthy and diseased muscle. Frontiers in cell and developmental biology, 13. https://doi.org/10.3389/fcell.2025.1656918

  16. Bachasson, D., Behin, A., Gargiulo, M., & Hogrel, J. Y. (2024). Activité physique et maladies neuromusculaires. 10 p.

  17. Hermitte, C., de Calbiac, H., Moulay, G., Merien, A., Laine, J., Polveche, H., Cailleret, M., Vassilopoulos, S., Kabashi, E., Furling, D., Martinat, C., & Gazzola, M. (2025). Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1. Journal of cachexia, sarcopenia and muscle, 16(6), e70112. https://doi.org/10.1002/jcsm.70112

  18. Medaer, L., Mora, R., Zhou, Z., Giarratana, N., Yedigaryan, L., La Rovere, R., Levtchenko, E., Mouly, V., Verhoeyen, E., Eeltink, S., Treumann, A., Vervliet, T., Sampaolesi, M., & Gijsbers, R. (2025). An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins. Journal of cachexia, sarcopenia and muscle, 16(6), e70116. https://doi.org/10.1002/jcsm.70116

  19. Khazen, W., Corriol-Rohou, S., Evangelista, T., Valent, A., Abbas, S., Nissan, X., & Méjat, A. (2025). Basket trials in rare diseases: a systematic review of current practices, methodological challenges, and future directions. Orphanet journal of rare diseases, 20(1), 578. https://doi.org/10.1186/s13023-025-04048-w

  20. Barbat du Closel, L., Bonello-Palot, N., Delmont, E., Bouhour, F., Stojkovic, T., Latour, P., & Attarian, S. (2023). Caractéristiques cliniques et électrophysiologiques des femmes atteintes de la maladie de Charcot-Marie-Tooth liée à l’X. Revue neurologique, 179, S101. https://doi.org/10.1016/j.neurol.2023.01.563