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. Severa, G., Souvannanorath, S., Tahiri, I., Alimi, C., Slioui, A., Villa, L., Salort-Campana, E., Leturcq, F., Streichenberger, N., Krahn, M., Sole, G., Féasson, L., Nadaj-Pakleza, A., Tard, C., Stojkovic, T., Sacconi, S., & Malfatti, E. (2026). French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice. Orphanet journal of rare diseases. https://doi.org/10.1186/s13023-026-04279-5

  2. Lejars, M., Kabore, C., Marande, B., Brulle-Soumare, L., Lallouche, N., Wahbi, K., Evangelista, T., Kassar, L. E., Fragner, P., Giraud-Triboult, K., Lemoine, J., Nissan, X., & Miagoux, Q. (2026). Generation and characterization of two human induced pluripotent stem cell lines from patients with Danon disease. Stem cell research, 92. https://doi.org/10.1016/j.scr.2026.103939

  3. Porões, F., Nobile, A., Widmer, L., Vidal, J., Di Vincenzo, J., Najberg, H., Fer, F., El Kaim, A., Rüegg, C., Froehlich, J. M., Reischauer, C., & Thoeny, H. C. (2026). Maximal radial distance for predicting extraprostatic extension of prostate cancer: a histopathological-radiological study. Cancer imaging : the official publication of the International Cancer Imaging Society. https://doi.org/10.1186/s40644-026-01011-1

  4. Jones, S. W., Shigdar, S., Temple, J., Tollitt, B., Janvier, A., Mutter, F., Henstock, J. R., Ohana, J., Turner, D. A., McArdle, C., Neri, G., Blackler, W., Olentsenko, G., Hoettges, K. F., McArdle, A., & Jackson, M. J. (2026). MicroAge mission: experimental design and hardware for a bespoke culture system supporting tissue-engineered skeletal muscle. NPJ microgravity. https://doi.org/10.1038/s41526-026-00579-z

  5. Underhill, A., Webb, S., Grandi, F. C., Carlton, A. J., Jeng, J. Y., Johnson, S. L., Kros, C. J., & Marcotti, W. (2026). Myosin 7a is required for maintaining the transducing stereocilia and for force transmission to the MET channel during cochlear hair cell development. The Journal of physiology, 604(5). https://doi.org/10.1113/JP289623

  6. Fayssoil, A., Mansencal, N., Chaffaut, C., Wahbi, K., Lofaso, F., Prigent, H., Orlikowski, D., Clair, B., Laforet, P., Bassez, G., Behin, A., Fontaine, B., Becane, H., Duboc, D., Dubourg, O., Chevret, S., Annane, D., & Stojkovic, T. (2026). Prognostic value of right ventricular-pulmonary artery coupling in patients with muscular dystrophies. Scientific Reports. https://doi.org/10.1038/s41598-026-39683-1

  7. El Kaim, A., Banos, M., Decostre, V., Birnbaum, S., Hogrel, J. Y., & Gargiulo, M. (2026). Sexual health in neuromuscular diseases: Neglected challenges revealed by a scoping review. Journal of Neuromuscular Diseases, Epub, 22143602261434092. https://doi.org/10.1177/22143602261434092

  8. Beaujard, B., Behin, A., Gargiulo, M., & Castillo, M. C. (2026). The disclosure of a diagnosis of neuromuscular disease in adulthood: a qualitative study of patients’ memories. Journal of community genetics, 17(2). https://doi.org/10.1007/s12687-026-00871-1

  9. Rocha, C., Mendes-da-Cruz, D. A., Negroni, E., Mouly, V., Ribeiro, I. P., Bonaldo, M. C., Savino, W., Cotta-de-Almeida, V., Bou-Habib, D. C., & Riederer, I. (2026). Zika virus infection disturbs development of human muscle progenitor cells. Frontiers in cellular and infection microbiology, 15. https://doi.org/10.3389/fcimb.2025.1638589

  10. Ganassi, M., Strafella, C., Savarese, M., Heher, P., Engquist, E. N., McGuire, L., Johari, M., De Nicola, G. F., Bigot, A., Mouly, V., Bortolani, S., Torchia, E., Monforte, M., Megalizzi, D., Sabino, A., Ricci, E., Giardina, E., Zammit, P. S., & Tasca, G. (2026). Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy. Cell death & disease, Epub. https://doi.org/10.1038/s41419-025-08358-6

  11. Guaricci, A. I., Faggiano, A., Wahbi, K., Barriales-Villa, R., Carella, M. C., Carugo, S., Christensen, A. H., Forleo, C., Gherbesi, E., Haugaa, K. H., Merlo, M., Larranaga-Moreira, J. M., Mushtaq, S., Novelli, V., Peretto, G., Resta, N., Rootwelt-Norberg, C., Ben Yaou, R., Ciccone, M. M., … Pontone, G. (2026). Cardiovascular prognostic impact of missense vs nonmissense lamin A/C variants: A systematic review and meta-analysis. Heart rhythm. https://doi.org/10.1016/j.hrthm.2025.12.038

  12. Zhang, H., Shang, R., Zhang, Z., Zhou, M., Bigot, A., Cai, Y., Zhao, Y., Wang, Y., Deshmukh, A., Kudryashova, E., Kudryashov, D. S., He, C., Mouly, V., & Bi, P. (2026). Development of a split-toxin CRISPR screening platform to systematically identify regulators of human myoblast fusion. Nature communications, 17(1). https://doi.org/10.1038/s41467-025-67583-x

  13. Feigean, R., Afroun-Roca, C., Guerrini, C., Souchu, J., Fer, F., Bassez, G., Benveniste, O., Hogrel, J. Y., & Bachasson, D. (2026). Efficacy and biomechanical effects of the powered lower-limbs exoskeletons Keeogo in adults with neuromuscular diseases. Journal of neuroengineering and rehabilitation, Epub. https://doi.org/10.1186/s12984-025-01867-7

  14. Crépin, R., Aït Ouailal, A., Joanne, P., Agbulut, O., Mouly, V., Maciejak, O., Malo, M., Pelta, J., Campillo, C., Labdi, S., & Lamour, G. (2026). Genotype-Dependent Morpho-Mechanical Profiling of Patient-Derived Human Myotubes on Nanogrooved Substrates. Small (Weinheim an der Bergstrasse, Germany). https://doi.org/10.1002/smll.202511234

  15. van As, D., Claeys, T., Salz, R., Haver, D. V., Dufour, S., Deelen, A. V., Gloerich, J., Gabriels, R., Volders, P. J., Dobelmann, V., Gangfuss, A., Ruck, T., Gourdon, G., Duchesne, E., Gagnon, C., Roos, A., Gool, A. V., Impens, F., Martens, L., … 't Hoen, P. A. (2026). Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacity. Journal of Neuromuscular Diseases, Epub. https://doi.org/10.1177/22143602251410443

  16. Coratti, G., Bovis, F., Franchino, V., Montes, J., Sansone, V. A., Dunaway Young, S., Cutrì, C., Pasternak, A., Pera, M. C., Pane, M., Glanzman, A., Pegoraro, E., Duong, T., Sogus, E., Sframeli, M., Messina, S., Cavalcante, E., Scoto, M. C., D'Amico, A., … Mercuri, E. (2026). Loss of ambulation in SMA III at the time of disease-modifying treatments: an international study. Journal of neurology, neurosurgery, and psychiatry. https://doi.org/10.1136/jnnp-2025-337505

  17. Mandia, D., Metodiev, M. D., Benoist, J. F., Gaignard, P., Ruzzenente, B., Zuchner, S., Beijer, D., Fernandez-Eulate, G., Rotig, A., Lamari, F., Rucheton, B., Rouzier, C., Navarro, L. R., Saadi, S. A., Cintas, P., Maquet, J., Masingue, M., Shor, N., & Nadjar, Y. (2026). MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults. Journal of inherited metabolic disease, 49(1). https://doi.org/10.1002/jimd.70139

  18. Feigean, R., Afroun-Roca, C., Guerrini, C., Souchu, J., Fer, F., Bassez, G., Benveniste, O., Hogrel, J. Y., & Bachasson, D. (2026). Multiparametric assessment of the MyoSuit, a bi-articular exoskeleton designed to assist gait and transfers in adults with neuromuscular diseases. Journal of Neuromuscular Diseases. https://doi.org/10.1177/22143602251405914

  19. Santos-Zas, I., Costas-Abalde, S., Lodeiro, A. C., Fernández-Barreiro, F., Cid-Díaz, T., Leal-López, S., González-Sánchez, J., García-Lamela, M., Debasa-Corral, L., Mosteiro, C. S., Mamchaoui, K., Mouly, V., Casabiell, X., Gallego, R., Relova, J. L., Pazos, Y., & Camiña, J. P. (2026). Obestatin Treatment Counteracts Muscle Wasting by Reactivation of Autophagy in Duchenne Muscular Dystrophy. MedComm, 7(1), e70563. https://doi.org/10.1002/mco2.70563

  20. Trad, G., Lenglet, T., Ledoux, I., Querin, G., Blancho, S., Marchand-Pauvert, V., Hogrel, J. Y., & Pradat, P. F. (2026). Safety and efficacy of the Atalante exoskeleton in the rehabilitation of French patients with amyotrophic lateral sclerosis: a prospective, monocentric, open, uncontrolled, interventional protocol, EXALS. BMJ Open, 16(1), e109620. https://doi.org/10.1136/bmjopen-2025-109620