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. Gerhalter, T., Marty, B., Gast, L. V., Roemer, F., Baudin, P. Y., Trollmann, R., Uder, M., Carlier, P. G., & Nagel, A. M. (2025). Longitudinal Follow-Up of Patients With Duchenne Muscular Dystrophy Using Quantitative 23Na and 1H MRI. Journal of cachexia, sarcopenia and muscle, 16(2). https://doi.org/10.1002/jcsm.13812

  2. Bogard, B., Bonnet, H., Boyarchuk, E., Tellier, G., Furling, D., Mouly, V., Francastel, C., & Hube, F. (2025). Small nucleolar RNAs promote the restoration of muscle differentiation defects in cells from myotonic dystrophy type 1. Nucleic acids research, 53(6). https://doi.org/10.1093/nar/gkaf232

  3. Giovarelli, M., Zecchini, S., Casati, S. R., Lociuro, L., Gjana, O., Mollica, L., Pisanu, E., Mbissam, H. D., Cappellari, O., De Santis, C., Arcari, A., Bigot, A., Clerici, G., Catalani, E., Del Quondam, S., Andolfo, A., Braccia, C., Cattaneo, M. G., Banfi, C., … De Palma, C. (2025). The SIRT1 activator SRT2104 exerts exercise mimetic effects and promotes Duchenne muscular dystrophy recovery. Cell death & disease, 16(1). https://doi.org/10.1038/s41419-025-07595-z

  4. Flores-Muñoz, C., Labraña-Allende, M., Mattar-Araos, M., Gómez-Soto, B., Silva-Guzman, J., Prado-Vega, L., Arriagada-Diaz, J., Guerra-Fernandez, M. J., Bevilacqua, J. A., Bitoun, M., Cardenas, A. M., Ardiles, A. O., & González-Jamett, A. M. (2025). The synaptic availability of GluA1 is reduced in hippocampal neurons of a murine model of dynamin-2 linked autosomal dominant centronuclear myopathy. Science progress, 108(2). https://doi.org/10.1177/00368504251332815

  5. Anwar, S., Roshmi, R. R., Woo, S., Haque, U. S., Arthur Lee, J. J., Duddy, W. J., Bigot, A., Maruyama, R., & Yokota, T. (2025). Antisense oligonucleotide-mediated exon 27 skipping restores dysferlin function in dysferlinopathy patient-derived muscle cells. Molecular therapy. Nucleic acids, 36(1), 102443. https://doi.org/10.1016/j.omtn.2024.102443

  6. Gast, L. V., Gerhalter, T., Türk, M., Sapli, A., Mathy, C. S., Heiss, R., Baudin, P. Y., Marty, B., Uder, M., & Nagel, A. M. (2025). Determination of Tissue Potassium and Sodium Concentrations in Dystrophic Skeletal Muscle Tissue Using Combined Potassium (39K) and Sodium (23Na) MRI at 7 T. NMR in biomedicine, 38(4), e70009. https://doi.org/10.1002/nbm.70009

  7. Plomp, L., Chassepot, H., Psimaras, D., Maisonobe, T., Mensi, E., Leonard-Louis, S., Plu, I., Rozes, A., Tubach, F., Touat, M., Anquetil, C., Wesner, N., Champtiaux, N., Rigolet, A., Demeret, S., Weiss, N., Alyanakian, M. A., Le Panse, R., Truffault, F., … Allenbach, Y. (2025). Features of myositis and myasthenia gravis in patients treated with immune checkpoint inhibitors: a multicentric, retrospective cohort study. The Lancet regional health. Europe, 50. https://doi.org/10.1016/j.lanepe.2024.101192

  8. Hentschel, A., Lacene, E., Brochier, G., Boisserie, J. M., Fromes, Y., Romero, N. B., Roos, A., & Evangelista, T. (2025). Glycogenosis type XI, a rare association between muscle and skin manifestations – the contribution of proteomics for the understanding of the underlying myopathology. Journal of Neuromuscular Diseases. https://doi.org/10.1177/22143602241296248

  9. Mendes-da-Cruz, D. A., Lemos, J. P., Belorio, E. P., & Savino, W. (2025). Intrathymic Cell Migration: Implications in Thymocyte Development and T Lymphocyte Repertoire Formation. Advances in experimental medicine and biology, 1471. https://doi.org/10.1007/978-3-031-77921-3_5

  10. Lopez Kolkovsky, A. L., Wang, C., Yao, J., & Ellingson, B. M. (2025). Multinuclear Interleaving of 1H CEST, Water T2, and 23Na MRI at 3 T. NMR in biomedicine, 38(3). https://doi.org/10.1002/nbm.70003

  11. Izzo, M., Battistini, J., Golini, E., Voellenkle, C., Provenzano, C., Orsini, T., Strimpakos, G., Scavizzi, F., Raspa, M., Baci, D., Frolova, S., Tastsoglou, S., Zaccagnini, G., Garcia-Manteiga, J. M., Gourdon, G., Mandillo, S., Cardinali, B., Martelli, F., & Falcone, G. (2025). Muscle-specific gene editing improves molecular and phenotypic defects in a mouse model of myotonic dystrophy type 1. Clinical and translational medicine, 15(2), e70227. https://doi.org/10.1002/ctm2.70227

  12. Ruggieri, V., Scaricamazza, S., Bracaglia, A., D'Ercole, C., Parisi, C., D'Angelo, P., Proietti, D., Cappelletti, C., Macone, A., Lozanoska-Ochser, B., Bouche, M., Latella, L., Valle, C., Ferri, A., Giordani, L., & Madaro, L. (2025). Polyamine metabolism dysregulation contributes to muscle fiber vulnerability in ALS. Cell reports, 44(1). https://doi.org/10.1016/j.celrep.2024.115123

  13. Guiraud, A., Couturier, N., Christin, E., Castellano, L., Daura, M., Kretz-Rémy, C., Janin, A., Ghasemizadeh, A., Del Carmine, P., Monteiro, L., Rotard, L., Sanchez, C., Jacquemond, V., Burny, C., Janczarski, S., Durieux, A. C., Arnould, D., Romero, N. B., Bui, M. T., … Gache, V. (2025). SH3KBP1 promotes skeletal myofiber formation and functionality through ER/SR architecture integrity. EMBO reports. https://doi.org/10.1038/s44319-025-00413-9

  14. Falcucci, L., Dooley, C. M., Adamoski, D., Juan, T., Martinez, J., Georgieva, A. M., Mamchaoui, K., Cirzi, C., & Stainier, D. Y. R. (2025). Transcriptional adaptation upregulates utrophin in Duchenne muscular dystrophy. Nature. https://doi.org/10.1038/s41586-024-08539-x

  15. Bolko, L., Anquetil, C., Llibre, A., Maillard, S., Amelin, D., Dorgham, K., Bondet, V., Landon-Cardinal, O., Toquet, S., Mariampillai, K., Malatre, S., Mahoudeau, A., Hervier, B., Rodero, M., Gorochov, G., Duffy, D., Benveniste, O., & Allenbach, Y. (2025). Ultrasensitive interferons quantification reveals different cytokine profile secretion in inflammatory myopathies and can serve as biomarkers of activity in dermatomyositis. Frontiers in immunology, 16, 1529582. https://doi.org/10.3389/fimmu.2025.1529582

  16. Martínez-Esteban, P., Sotelo-Muñoz, M., Severa, G., Cortez-Salazar, L., Cassandrini, D., Urtizberea, J. A., Castiglioni, C., & Malfatti, E. (2025). VMA21-X-linked myopathy in Peru: characterization of three families. Neuromuscular disorders : NMD, 48(Epub), 105311. https://doi.org/10.1016/j.nmd.2025.105311

  17. Sanchez-Casado, L., Evangelista, T., Nectoux, J., Verebi, C., & Stojkovic, T. (2024). Chronic pain as a presenting feature of dysferlinopathy. Neuromuscular disorders : NMD, 46. https://doi.org/10.1016/j.nmd.2024.105269

  18. Barrière, S., Manel, V., Barnerias, C., Wahbi, K., Audic, F., Cances, C., Chouchane, M., Dabaj, I., Davion, J. B., Desguerre, I., Durigneux, J., Espil-Taris, C., Gousse, G., Gitiaux, C., Lambert, C., Laroche, C., Laugel, V., Moing, A. L., Pereon, Y., … Sarret, C. (2025). Evaluation of professional practices in the use of mexiletine for the management of childhood myotonia in French pediatric neuromuscular centers (MEXI-PEDI survey). Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, Epub. https://doi.org/10.1016/j.arcped.2024.10.009

  19. Laurie, S., Steyaert, W., de Boer, E., Polavarapu, K., Schuermans, N., Sommer, A. K., Demidov, G., Ellwanger, K., Paramonov, I., Thomas, C., Aretz, S., Baets, J., Benetti, E., Bullich, G., Chinnery, P. F., Clayton-Smith, J., Cohen, E., Danis, D., de Sainte Agathe, J. M., … Hoischen, A. (2025). Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Nature medicine, Epub. https://doi.org/10.1038/s41591-024-03420-w

  20. Lauletta, A., Allenbach, Y., Behin, A., Evangelista, T., Leonard-Louis, S., Garibaldi, M., & Benveniste, O. (2025). High prevalence of facioscapulohumeral muscular dystrophy (FSHD) and inflammatory myopathies association: Is there an interplay? Journal of the neurological sciences, 470(Epub), 123400. https://doi.org/10.1016/j.jns.2025.123400