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. Martinez-Amaro, F. J., Garcia-Padilla, C., Bonet, F., Alonso-Villa, E., Toro, R., Daimi, H., Vargas, E., Hernandez, I., Vilaplana-Martí, B., Pérez de Castro, I., Bouchard, L., Hubert, F., Rochais, F., Muchir, A., Veliova, M., Enriquez, J. A., Salguero, A., De La Pompa, J. L., Lozano-Velasco, E., & Franco, D. (2026). Walras modulates sex-dependent endoplasmic reticulum stress in cardiomyopathy. Frontiers in physiology, 17, 1740128. https://doi.org/10.3389/fphys.2026.1740128

  2. Trad, G., Lenglet, T., Querin, G., Blancho, S., Marchand-Pauvert, V., Hogrel, J. Y., & Pradat, P. F. (2026). Beyond outcomes: patients’ lived experience of exoskeleton-assisted gait training in amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis & frontotemporal degeneration, 1-9. https://doi.org/10.1080/21678421.2026.2674021

  3. Bouchereau, W., Chenane, L., Weiss-Gayet, M., Lessard, L., Cardona, Y., Mounier, R., Gallay, L., Allenbach, Y., Benveniste, O., Corpet, A., Chazaud, B., & Lomonte, P. (2026). Defective plasticity in dermatomyositis patients muscle stem cells is associated with sustained intrinsic inflammatory signaling and disruption of the histone H3.3 chromatin loading pathway. NAR molecular medicine, 3(2), ugag022. https://doi.org/10.1093/narmme/ugag022

  4. Fayssoil, A., De Antonio, M., Prigent, H., Behin, A., Stojkovic, T., Laforet, P., Wahbi, K., Lofaso, F., Orlikowski, D., Fontaine, B., & Bassez, G. (2026). Determinants of diaphragm ultrasound and its diagnostic performance for predicting respiratory status in myotonic dystrophy type 1. Respiratory medicine and research, 90(Epub), 101283. https://doi.org/10.1016/j.resmer.2026.101283

  5. Nierding, A., Nardi, A., Similowski, T., Straus, C., Gennisson, J. L., & Bachasson, D. (2026). First Evaluation of Ultrafast Ultrasound Coupled With Phrenic Stimulation for Noninvasive Diagnosis of Diaphragm Dysfunction. Journal of cachexia, sarcopenia and muscle, 17(3), e70323. https://doi.org/10.1002/jcsm.70323

  6. Bolano-Diaz, C. F., Verdu-Diaz, J., Hao, D., James, M. K., Rufibach, L., Blamire, A., Reyngoudt, H., Carlier, P. G., Gordish-Dressman, H., Hilsden, H., Spuler, S., Day, J., Jones, K. J., Bharucha-Goebel, D., Pestronk, A., Walter, M. C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., … Diaz-Manera, J. (2026). Identification of prognostic biomarkers in a large cohort of patients with LGMD R2. Journal of neurology, 273(6). https://doi.org/10.1007/s00415-026-13868-0

  7. Labella, B., Lacene, E., Beuvin, M., Chanut, A., Madelaine, A., Levy-Borsato, F., Brochier, G., Labasse, C., Bassez, G., Seilhean, D., Leonard-Louis, S., & Evangelista, T. (2026). Psychosocial Determinants of Pain in Muscle Biopsy. Muscle & Nerve. https://doi.org/10.1002/mus.70293

  8. Xirouchaki, C. E., García-Domínguez, E., Coughlan, E., McGrath, M. J., Giri, S., Liang, S., Wiede, F., Bigot, A., Sadoshima, J., Gomez-Cabrera, M. C., Philp, A., Moberg, M., Apró, W., Roman, W., Mitchell, C. A., & Tiganis, T. (2026). A decline in skeletal muscle NOX4 abrogates exercise-induced adaptive homeostasis and exacerbates biological aging. Science advances, 12(24), eadz1953. https://doi.org/10.1126/sciadv.adz1953

  9. Jeanpierre, L., Pecquet, C., Saliba, H., Finard, P., Terry, S., Tavella, G., Guesmia, I., Boutin, S., Bertin, B., Benkhelifa-Ziyyat, S., Ronzitti, G., & Gross, D. A. (2026). CD8 T-cell activation occurs 24 hours post-AAV administration and is driven by muscle promoter specificity. JCI insight, Epub. https://doi.org/10.1172/jci.insight.202541

  10. Muraine, L., Bensalah, M., Gargan, S., Dowling, P., Bigot, A., Allamand, V., Dhiab, J., Kondili, M., Perie, S., Lacau St-Guily, J., Butler-Browne, G., Mouly, V., Ohlendieck, K., Trollet, C., & Negroni, E. (2026). Collagen VI is a fibrosis-associated signal disrupting muscle regeneration across distinct human myopathies. EMBO reports. https://doi.org/10.1038/s44319-026-00834-0

  11. Sansone, V. A., Dang, U. J., Edmondson, L., Diaz-Manera, J., Nikolenko, N., Ashley, E. J., Bassez, G., Gagnon, C., Montagnese, F., Osman, H., Tard, C., Nowak, U., Turner, C., & Zozulya-Weidenfeller, A. (2026). Exploring the impact of myotonia on daily functioning in myotonic dystrophy: a patient-reported survey. BMC neurology, Epub. https://doi.org/10.1186/s12883-026-05002-4

  12. Birnbaum, S., Archer, A., Lejeune, J., Hogrel, J. Y., & Stalens, C. (2026). Facilitators and barriers to exercise in autoimmune myasthenia gravis: A cross-sectional survey study. Journal of Neuromuscular Diseases, Epub. https://doi.org/10.1177/22143602261463887

  13. Demuynck, O., Rasmussen, C., Khitri, M. Y., Meyer, A., Hachulla, E., Larivière, D., Staumont, D., Costedoat-Chalumeau, N., Mouthon, L., Terrier, B., Limal, N., Noury, J. B., Fite, C., Crabol, Y., Gilardin, L., Vinzio, S., Gachet, B., Bellaiche, S., Bouvier, A. M., … Allenbach, Y. (2026). Gastrointestinal involvement in dermatomyositis: multicentric retrospective cohort study. Rheumatology (Oxford, England), Epub. https://doi.org/10.1093/rheumatology/keag282

  14. Nelke, C., Sanchez-Dal Cin, J., Dallevet, C. A., Park, J. S., Kinold, J. C., Schroeter, C. B., Kleefeld, F., Guttsches, A. K., Quint, P., Walli, S., Cengiz, D., Dobelmann, V., Preusse, C., Mensch, A., Schänzer, A., Leo, M., Hagenacker, T., Schoser, B., Distler, J. H. W., … Ruck, T. (2026). Inflammation reprograms fibro-adipogenic progenitors to sustain immunopathogenic niches in myositis. Cell death & disease, 17(1), 567. https://doi.org/10.1038/s41419-026-08966-w

  15. Baelde, R. J., Vonk, L. A., Nollet, E. E., Galli, R. A., Monteiro, A. F., Bastu, S., Das, B., van Weeghel, M., Schomakers, B. V., Vinten, K. T., van den Berg, M., van der Velden, J., Houtkooper, R. H., Voermans, N. C., Malfatti, E., Ottenheijm, C. A. C., & de Winter, J. M. (2026). Nicotinamide riboside prevents mitochondrial dysfunction in nemaline myopathy type 6. Human molecular genetics, 35(12). https://doi.org/10.1093/hmg/ddag023

  16. Vincent, A., Badi, R., Barisic, N., Berrih-Aknin, S., Bonifati, D. M., Brenner, T., Chalk, C., Chang, T., Chiu, H. C., Corbin, D., Cortés-Vicente, E., Deymeer, F., Erdem-Ozdamar, S., Evoli, A., Eymard, B., Gilhus, N. E., Gotkine, M., Heckmann, J., Illes, Z., … Witoonpanich, R. (2026). Relative frequencies of muscle specific kinase antibody myasthenia in 46 centres worldwide. Brain : a journal of neurology. https://doi.org/10.1093/brain/awag215

  17. Conrad, S., Toquet, C., Fradin, M., Wahbi, K., Ghorab, K., Leborgne, A. S., Benbrik, N., Pereon, Y., Magot, A., Perrier-Boeswillwald, J., Pattier, S., Trochu, J. N., Probst, V., Dorent, R., Nadaj-Pakleza, A., Amthor, H., Quijano-Roy, S., Cossee, M., Tuffery-Giraud, S., … Mercier, S. (2026). Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patients. Neuromuscular disorders : NMD, 65(Epub). https://doi.org/10.1016/j.nmd.2026.106484

  18. Smith, L. E., Hagensen, C. E., Tsiamis, V., van Waardenberg, A. J., Mamchaoui, K., Jensen, O. N., Schwämmle, V., & Rogowska-Wrzesinska, A. (2026). A temporal phospho-acetylome atlas of human myogenesis identifies coordinated post-translational regulation. Molecular & cellular proteomics : MCP. https://doi.org/10.1016/j.mcpro.2026.101619

  19. Villar-Quiles, R. N., Sternberg, D., Nougues, M. C., Isapof, A., Eymard, B., & Bauche, S. (2026). AGRN-, LRP4-, MUSK-Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms. Muscle & Nerve. https://doi.org/10.1002/mus.70081

  20. Leite, M., Galland, F., Guerra, M., Rodrigues, L. C., Taday, J., Monteforte, P., Hirata, H., Gottfried, C., Donato, R., Smaili, S., & Gonçalves, C. (2023). Astroglial S100B Secretion Is Mediated by Ca2+ Mobilization from Endoplasmic Reticulum: A Study Using Forskolin and DMSO as Secretagogues. International Journal of molecular sciences, 24(23). https://doi.org/10.3390/ijms242316576