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. Ouyang, J. P. T., Shukla, S., Bensalah, M., & Parker, R. (2025). DM1 repeat-expanded RNAs confer RNA toxicity as individual nuclear-retained RNAs. Cell reports, 44(5). https://doi.org/10.1016/j.celrep.2025.115582

  2. De Noray, H., Kaïm, A. E., Blanchard, F., & Jacquens, A. (2025). ICU Mobility Scale translation to French and validation. Anaesthesia, critical care & pain medicine, Epub. https://doi.org/10.1016/j.accpm.2025.101532

  3. Le Panse, R. (2025). Is there a path to cure myasthenia gravis? Current opinion in immunology, 95. https://doi.org/10.1016/j.coi.2025.102577

  4. Feigean, R., Afroun-Roca, C., Guerrini, C., Souchu, J., Fer, F., Benveniste, O., Bassez, G., Hogrel, J. Y., & Bachasson, D. (2025). Key determinants of impaired gait performance in adults with neuromuscular diseases: a multiparametric and multimodal analysis. Journal of applied physiology (Bethesda, Md. : 1985). https://doi.org/10.1152/japplphysiol.00287.2024

  5. Rauh, S. S., Baudin, P. Y., Stojkovic, T., Birnbaum, S., Decostre, V., Zanfongnon, R. L., Fromes, Y., Hooijmans, M. T., Strijkers, G. J., Hogrel, J. Y., Olivier, S., Marty, B., & Reyngoudt, H. (2025). Multi-parametric quantitative MRI of the lower limb muscles in a longitudinal study of limb-girdle muscular dystrophy R9. PLoS ONE, 20(4), e0321463. https://doi.org/10.1371/journal.pone.0321463

  6. Quarta, R., Cristiano, E., Han, M. K. L., Boccanegra, B., Marinelli, M., Gaio, N., Ohana, J., Mouly, V., Cappellari, O., & de Luca, A. (2025). Patient-Oriented In Vitro Studies in Duchenne Muscular Dystrophy: Validation of a 3D Skeletal Muscle Organoid Platform. Biomedicines, 13(5). https://doi.org/10.3390/biomedicines13051109

  7. Vermeulen, E., Baudin, P. Y., Lapert, M., & Marty, B. (2025). Quantitative muscle water T2 mapping using RF phase-modulated 3D gradient echo imaging. Magnetic resonance in medicine, Epub. https://doi.org/10.1002/mrm.30545

  8. Dowling, P., Negroni, E., Trollet, C., Zweyer, M., Swandulla, D., & Ohlendieck, K. (2025). Serum protein biomarker signature of Duchenne muscular dystrophy. European journal of translational myology. https://doi.org/10.4081/ejtm.2025.13956

  9. Mancuso, M., Colitta, A., Lavorato, M., van den Bergh, P., Kirschner, J., Kornblum, C., Maggi, L., Lamy, F., Lochmuller, H., Nordstrøm, M., Malfatti, E., Ferlini, A., Pareyson, D., Silani, V., Kleopa, K. A., de Visser, M., Atalaia, A., & Evangelista, T. (2025). The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey. Orphanet journal of rare diseases, 20(1), 221. https://doi.org/10.1186/s13023-025-03742-z

  10. Guinebretiere, O., Calonge, Q., Bruneteau, G., Amador, M. D., & Nedelec, T. (2025). Time Trends in Incidence of Motor Neuron Diseases in France: A Comprehensive 14-Year Nationwide Study (2010-2023). European journal of neurology, 32(4). https://doi.org/10.1111/ene.70156

  11. Bui, S., Laine, J., Chevé, M., Vassilopoulos, S., & Lavieu, G. (2025). Versatile tethering system to control cell-specific targeting of bioengineered extracellular vesicles. Scientific Reports, 15(1). https://doi.org/10.1038/s41598-025-04576-2

  12. Slioussarenko, C., Baudin, P. Y., & Marty, B. (2025). A steady-state MR fingerprinting sequence optimization framework applied to the fast 3D quantification of fat fraction and water T1 in the thigh muscles. Magnetic resonance in medicine. https://doi.org/10.1002/mrm.30490

  13. Naddaf, E., Skolka, M. P., Prokop, L., Dimachkie, M. M., Hogrel, J. Y., Benveniste, O., Wang, Z., Mandrekar, J., West, C. P., & Murad, M. H. (2025). A systematic review and meta-analysis of the response to placebo in clinical trials of inclusion body myositis. Rheumatology (Oxford, England), Epub. https://doi.org/10.1093/rheumatology/keaf146

  14. Kruse, M. T. A., Olde Dubbelink, B. A. S., Kroneman, M., De Groot, I., Schlüter, S., de Visser, M., Evangelista, T., Moretti, A., Weber, D., Ward, L. M., & Voermans, N. C. (2025). Awareness of bone strength in patients with neuromuscular disorders: ERN EURO-NMD clinician survey and European patient survey. Journal of the neurological sciences, 472(Epub), 123420. https://doi.org/10.1016/j.jns.2025.123420

  15. Foley, A. R., Bolduc, V., Guirguis, F., Donkervoort, S., Hu, Y., Orbach, R., McCarty, R. M., Sarathy, A., Norato, G., Cummings, B. B., Lek, M., Sarkozy, A., Butterfield, R. J., Kirschner, J., Nascimento, A., Natera-de Benito, D., Quijano-Roy, S., Stojkovic, T., Merlini, L., … Bonnemann, C. G. (2025). Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T. Brain : a journal of neurology. https://doi.org/10.1093/brain/awaf116

  16. Bisciglia, M., Severa, G., Romero, N. B., Fardeau, M., Rendu, J., Stojkovic, T., Laforet, P., Eymard, B., Ferreiro, A., Malfatti, E., & Behin, A. (2025). Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age. European journal of neurology, 32(4). https://doi.org/10.1111/ene.70109

  17. Chesshyre, M., Ridout, D., Stimpson, G., Ricotti, V., De Lucia, S., Niks, E. H., Straub, V., Servais, L., Hogrel, J. Y., Baranello, G., Manzur, A., & Muntoni, F. (2025). Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophy. Developmental medicine and child neurology, Epub. https://doi.org/10.1111/dmcn.16282

  18. Mathy, C. S., Nagel, A. M., Türk, M., Stuprich, C. M., Gerhalter, T., Marty, B., Bickelhaupt, S., Laun, F. B., Dörfler, A., Uder, M., Bäuerle, T., Heiss, R., Weber, M. A., & Gast, L. V. (2025). Feasibility of 7 T 39 K/ 23 Na Magnetic Resonance Imaging for assessing muscular ion balance in hypokalemic periodic paralysis. Investigative radiology. https://doi.org/10.1097/RLI.0000000000001188

  19. De Winter, J., Van de Vondel, L., Ermanoska, B., Monticelli, A., Isapof, A., Cohen, E., Stojkovic, T., Hackman, P., Johari, M., Palmio, J., Waldrop, M. A., Meyer, A. P., Nicolau, S., Flanigan, K. M., Topf, A., Diaz-Manera, J., Straub, V., Longman, C., McWilliam, C. A., … Baets, J. (2025). Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2025.101399

  20. Bruge, C., Bourg, N., Pellier, E., Tournois, J., Polentes, J., Benabides, M., Grossi, N., Bigot, A., Brureau, A., Richard, I., & Nissan, X. (2025). High-throughput screening identifies bazedoxifene as a potential therapeutic for dysferlin-deficient limb girdle muscular dystrophy. British journal of pharmacology, Epub. https://doi.org/10.1111/bph.70017