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. Pereira, C. D., Espadas, G., Martins, F., Bertrand, A. T., Servais, L., Sabidó, E., Chevalier, P., da Cruz E Silva, O. A. B., & Rebelo, S. (2024). LAP1 Interactome Profiling Provides New Insights into LAP1’s Physiological Functions. International Journal of molecular sciences, 25(24). https://doi.org/10.3390/ijms252413235

  2. Spinazzi, M., Savarese, M., Letournel, F., Sagath, L., Manero, F., Guichet, A., Hoischen, A., Metay, C., Gouju, J., & Udd, B. (2025). Myotilin gene duplication causing late-onset myotilinopathy. European journal of neurology, 32(1). https://doi.org/10.1111/ene.70029

  3. Bui, M. T., Fernandez-Eulate, G., Evangelista, T., Lacene, E., Brochier, G., Labasse, C., Madelaine, A., Chanut, A., Beuvin, M., Borsato-Levy, F., Biancalana, V., Barcia, G., de Lonlay, P., Laporte, J., Bohm, J., & Romero, N. B. (2024). Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era. Acta neuropathologica communications, 12(1), 191. https://doi.org/10.1186/s40478-024-01882-0

  4. Gloriani, M., Cheli, B., D'Ercole, C., Ruggieri, V., Cosentino, M., Serrat Pineda, M., Lozanoska-Ochser, B., Grassi, F., Bouche, M., Madaro, L., & Sanchez Riera, C. (2025). Sarcoglycans are enriched at the neuromuscular junction in a nerve-dependent manner. Cell death & disease, 16(1), 37. https://doi.org/10.1038/s41419-025-07353-1

  5. de Montferrand, C., Morard, M. D., Le Goff, L., Rabilloud, M., Fonnesu, M., Pons, C., Gidaro, T., Saidi, M., Rippert, P., Roche, S., & Vuillerot, C. (2025). Structural validity of the French version of the Child and Adolescent Scale of Participation (CASP-Fr) and factors influencing the participation of children with neuromuscular diseases. Disability and rehabilitation, Epub. https://doi.org/10.1080/09638288.2025.2456585

  6. Benarroch, L., Bonne, G., Rivier, F., Procaccio, V., & Hamroun, D. (2025). The 2025 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscular disorders : NMD, 46, 105261. https://doi.org/10.1016/j.nmd.2024.105261

  7. Staedler, K., Allenbach, Y., Salort-Campana, E., Malfatti, E., Rigolet, A., Attarian, S., Maues de Paula, A., Leonard-Louis, S., Benveniste, O., & Stojkovic, T. (2025). Vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS). European journal of neurology, 32(1). https://doi.org/10.1111/ene.70026

  8. Evoli, A., Palace, J., Spagni, G., Cheli, M., Ruiter, A., Verschuuren, J., & Maggi, L. (2024). 275th ENMC international workshop: Seronegative myasthenia gravis: An update paradigm for diagnosis and management, 9-11 February 2024, Hoofddorp, the Netherlands. Neuromuscular disorders : NMD, 44. https://doi.org/10.1016/j.nmd.2024.104468

  9. Bouragba, D. (2024). Atlas du muscle squelettique vieillissant. médecine/sciences (m/s), 40(HS 1), 76. https://doi.org/10.1051/medsci/2024160

  10. Caldas de Almeida Araujo, E., Barthelemy, I., Fromes, Y., Baudin, P. Y., Blot, S., Reyngoudt, H., & Marty, B. (2025). Comprehensive quantitative magnetic resonance imaging assessment of skeletal muscle pathophysiology in golden retriever muscular dystrophy: Insights from multicomponent water T2 and extracellular volume fraction. NMR in biomedicine. https://doi.org/10.1002/nbm.5278

  11. Boulinguiez, A., Bouragba, D., Crisol, B., Bigot, A., Butler-Browne, G., & Trollet, C. (2024). Effets de l’exercice physique sur les maladies musculaires. médecine/sciences (m/s), 40(HS 1), 17. https://doi.org/10.1051/medsci/2024161

  12. Zhu, C., Han, Y., Byun, J., Xiao, X., Rothwell, S., Miller, F. W., Lundberg, I. E., Gregersen, P. K., Vencovsky, J., Shaw, V. R., McHugh, N., Limaye, V., Selva-O'Callaghan, A., Hanna, M. G., Machado, P. M., Pachman, L. M., Reed, A. M., Rider, L. G., Molberg Ø, … Amos, C. I. (2025). Genetic Architecture of Idiopathic Inflammatory Myopathies From Meta-Analyses. Arthritis & rheumatology (Hoboken, N.J.), Epub. https://doi.org/10.1002/art.43088

  13. Diop, G. (2024). Invasion de méduses sur la côte bauloise (MyoImage). médecine/sciences (m/s), 40(HS 1), 45. https://doi.org/10.1051/medsci/2024164

  14. Kpalma, G., Bonne, G., Stojkovic, T., Sole, G., & Camdessanché, J. P. (2024). L’annuaire des laboratoires : Une cartographie de la recherche neuromusculaire française. médecine/sciences (m/s), 40(HS 1), 74. https://doi.org/10.1051/medsci/2024127

  15. Benarroch, L. (2024). L’intégration de la grande diversité génétique de la population humaine grâce au pangénome. médecine/sciences (m/s), 40(HS 1), 75. https://doi.org/10.1051/medsci/2024126

  16. Frison-Roche, C., Demier, C. M., Cottin, S., Laine, J., Arandel, L., Halliez, M., Lemaitre, M., Lornage, X., Strochlic, L., Swanson, M. S., Martinat, C., Messéant, J., Furling, D., & Rau, F. (2025). MBNL deficiency in motor neurons disrupts neuromuscular junction maintenance and gait coordination. Brain : a journal of neurology. https://doi.org/10.1093/brain/awae336

  17. Fransson, J., Bachelin, C., Ichou, F., Guillot-Noël, L., Ponnaiah, M., Gloaguen, A., Maillart, E., Stankoff, B., Tenenhaus, A., Fontaine, B., Mochel, F., Louapre, C., & Zujovic, V. (2024). Multiple Sclerosis Patient Macrophages Impaired Metabolism Leads to an Altered Response to Activation Stimuli. Neurology(R) neuroimmunology & neuroinflammation, 11(6). https://doi.org/10.1212/NXI.0000000000200312

  18. Heaton, R. A., Ball, S. T., Staunton, C. A., Mouly, V., Jones, S. W., McArdle, A., & Jackson, M. J. (2024). Peroxiredoxin 2 mediates redox-stimulated adaptations to oxidative phosphorylation induced by contractile activity in human skeletal muscle myotubes. Free radical biology & medicine, 227. https://doi.org/10.1016/j.freeradbiomed.2024.11.053

  19. Teboul, A., Allenbach, Y., Tubach, F., Belin, L., Cassius, C., Demortier, J., Dossier, A., Faucon, C., Kasser, C., Mekinian, A., Monseau, G., Fouchard, M., Chambrelan, E., Viguier, M., Kluger, N., Mahevas, T., Bergeret, B., Bachmeyer, C., Lenormand, C., … Chasset, F. (2025). Prognostic factors for patients with cancer-associated dermatomyositis: a retrospective, multicenter cohort study of 73 patients. Rheumatology (Oxford, England), Epub. https://doi.org/10.1093/rheumatology/keae629

  20. Richard, A., Bocquet, A., Belin de Chantemèle, E., Retailleau, K., Toutain, B., Mongue-Din, H., Guihot, A. L., Fassot, C., Fromes, Y., Henrion, D., & Loufrani, L. (2025). Reduced microvascular flow-mediated dilation in Syrian hamsters lacking d-sarcoglycan is caused by increased oxidative stress. American journal of physiology. Heart and circulatory physiology, 328(1). https://doi.org/10.1152/ajpheart.00569.2024