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. Vignard, V., Maillasson, M., Bigot, A., Kury, S., Besnard, T., Broly, M., Guého, A., Com, E., Davis, E., Deb, W., Florenceau, L., Sobriel, K., Ménard, G., Gardie, B., Goldenberg, A., Porrmann, J., Richardson, R., Ruffier, L., Hadj-Rabia, S., … Mercier, S. (2025). Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up. EBiomedicine, 119, 105864. https://doi.org/10.1016/j.ebiom.2025.105864

  2. de Vries, G. M., Asselbergh, B., Monticelli, A., De Jonghe, P., Maudsley, S., Van Den Bergh, P. Y. K., Bigot, A., De Bleecker, J. L., Ermanoska, B., De Ridder, W., & Baets, J. (2025). Ageing Signatures and Disturbed Muscle Regeneration in Muscle Proteome of Inclusion Body Myositis. Journal of cachexia, sarcopenia and muscle, 16(3), e13845. https://doi.org/10.1002/jcsm.13845

  3. Chitimus, D. M., Venturelli, N., Lefeuvre, C., Metay, C., Nicolas, G., Carlier, R. Y., Laforet, P., & Guémy, C. (2025). Autosomal dominant distal myopathy due to p.Ser85Cys mutation in the MATR3 gene: Novel case series and literature review. Revue neurologique. https://doi.org/10.1016/j.neurol.2025.04.011

  4. Missel, M., Petersen, R. H., Secher, E. L., Medeiros, E. B. Z., Rude, K., Højgaard, J. L. S., Viby, N. E., Birnbaum, S., Witting, N., & Andersen, L. K. (2025). Challenges navigating thymectomy with myasthenia gravis: A qualitative study of patient treatment experiences. Applied nursing research : ANR, 83. https://doi.org/10.1016/j.apnr.2025.151961

  5. Fernandez-Eulate, G., Gitiaux, C., Thiele, S., Jungbluth, H., Potulska-Chromik, A., Marini-Bettolo, C., Davion, J. B., Moris, G., Gallardo, E., Olive, M., de la Hoz, C. P. F., Audic, F., Isapof, A., Walter, M. C., Angelini, C., Bertini, E., Schara-Schmidt, U., Claeys, K. G., Dohrn, M. F., … Stojkovic, T. (2025). Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe. Brain : a journal of neurology. https://doi.org/10.1093/brain/awaf223

  6. Chassagne, J., Da Silva, N., Akrouf, I., Cadot, B., Julien, L., Barthelemy, I., Blot, S., Le Guiner, C., Bui, M. T., Romero, N. B., Laine, J., Pietri-Rouxel, F., Meunier, P., Mamchaoui, K., Lorain, S., Bitoun, M., & Benkhelifa-Ziyyat, S. (2025). Early Endosome Disturbance and Endolysosomal Pathway Dysfunction in Duchenne Muscular Dystrophy. The American journal of pathology. https://doi.org/10.1016/j.ajpath.2025.05.007

  7. Forand, A., Moog, S., Mougenot, N., Lemaitre, M., Sevoz-Couche, C., Guesmia, Z., Virtanen, L., Giordani, L., Muchir, A., & Pietri-Rouxel, F. (2025). Long-Term Dystrophin Replacement Therapy in Duchenne Muscular Dystrophy Causes Cardiac Inflammation. JACC. Basic to translational science, 10(6), 759-782. https://doi.org/10.1016/j.jacbts.2024.12.015

  8. Bolano-Diaz, C. F., Reyngoudt, H., Wilson, I. J., James, M. K., Smith, F. E., Caldas de Almeida Araujo, E., Gordish-Dressman, H., Hilsden, H., Rufibach, L. E., Wallace, D., Ward, L., Stramare, R., Rampado, A., Smith, M., Boisserie, J. M., Le Louer, J., Foster, S., Peduto, A., Sato, N., … Diaz-Manera, J. (2025). Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis. Neurology. Genetics, 11(4), e200283. https://doi.org/10.1212/NXG.0000000000200283

  9. Schiava, M., Parkhurst, Y., Henderson, M., Polvikoski, T., Valtcheva, M. V., Nishino, I., Inoue, M., Nishimori, Y., Saito, Y., Stojkovic, T., Villar-Quiles, R. N., Romero, N. B., Evangelista, T., Malfatti, E., Souvannanorath, S., Pegoraro, E., Riguzzi, P., Monforte, M., Bortolani, S., … Diaz-Manera, J. (2025). Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy. Neurology. Genetics, 11(4), e200265. https://doi.org/10.1212/NXG.0000000000200265

  10. Halliez, M., Cottin, S., You, A., Buon, C., Grondin, A., Lippens, L. S., Lemaitre, M., Ezan, J., Isch, C., Rufin, Y., Montcouquiol, M., Sans, N., Fontaine, B., Messéant, J., Le Panse, R., & Strochlic, L. (2025). MuSK cysteine-rich domain antibodies are pathogenic in a mouse model of autoimmune myasthenia gravis. The Journal of clinical investigation. https://doi.org/10.1172/JCI173308

  11. Grimaldi, L., Garcia-Uzquiano, R., de la Banda, M. G., Oulhissane-Omar, A., Tard, C., Saugier-Veber, P., Laugel, V., Desguerre, I., Cintas, P., Vuillerot, C., Audic, F., Cances, C., Stojkovic, T., Urtizberea, J. A., Attarian, S., Ropars, J., & Quijano-Roy, S. (2025). REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France. Journal of Neuromuscular Diseases, 22143602251353446. https://doi.org/10.1177/22143602251353446

  12. Tachibana, S., Vincent-Genod, D., Rippert, P., Vuillerot, C., & De Lucia, S. (2025). The Lived Experience of Pediatric Gene Therapy Clinical Trial in Duchenne Muscular Dystrophy: Exploring Perceptions of Parents and Professionals Using Social Representation Method. Human gene therapy. https://doi.org/10.1177/10430342251359998

  13. Dragin, N., & Le Panse, R. (2025). Thymic physiology and pathophysiology in Myasthenia Gravis. International review of neurobiology, 182, 67-88. https://doi.org/10.1016/bs.irn.2025.04.023

  14. Slioussarenko, C., Lapert, M., Baudin, P. Y., & Marty, B. (2025). Upper-body free-breathing Magnetic Resonance Fingerprinting applied to the quantification of water T1 and fat fraction. Medical image analysis, 105, 103699. https://doi.org/10.1016/j.media.2025.103699

  15. Kramarz, C., Masingue, M., Bouhour, F., Vial, C., Latour, P., Vandendries, C., Maisonobe, T., Coebergh, J., Blake, J., Reilly, M. M., Stojkovic, T., & Rossor, A. M. (2025). A Case Series of Unilateral Peripheral Neuropathy. Journal of the peripheral nervous system : JPNS, 30(2). https://doi.org/10.1111/jns.70033

  16. Baudin, P. Y., Balsiger, F., Beck, L., Boisserie, J. M., Jouan, S., Marty, B., Reyngoudt, H., & Scheidegger, O. (2025). A Minimal Annotation Pipeline for Deep Learning Segmentation of Skeletal Muscles. NMR in biomedicine, 38(7), e70066. https://doi.org/10.1002/nbm.70066

  17. El Kaim, A., Fer, F., Decostre, V., Laforet, P., & Hogrel, J. Y. (2025). A model to predict the 6-Minute Walk Distance in Pompe disease. Journal of Neuromuscular Diseases. https://doi.org/10.1177/22143602251336661

  18. Nieuwenhuis, S., Kozakov, D., Kapusta, K., Gourdon, G., & Glennon, J. C. (2025). Altered reversal and extinction learning in the DMSXL mouse model of type I myotonic dystrophy (DM1): An exploratory study. Journal of Neuromuscular Diseases, Epub. https://doi.org/10.1177/22143602251339350

  19. You, A., Lippens, L. S., Fayet, O. M., Maillard, S., Betemps, L., Grondin, A., Vilquin, J. T., Dragin, N., & Le Panse, R. (2025). Development of a refined experimental mouse model of myasthenia gravis with anti-acetylcholine receptor antibodies. Frontiers in immunology, 16. https://doi.org/10.3389/fimmu.2025.1521382

  20. Shah, M. N. A., Wilton-Clark, H., Haque, F., Powell, B., Sutanto, L. E., Maradiya, R., Zhabyeyev, P., Roshmi, R. R., Anwar, S., Aslesh, T., Lim, K. R. Q., Maruyama, R., Bigot, A., Young, C. S., Bittner, S., Spencer, M. J., Moulton, H. M., Oudit, G. Y., & Yokota, T. (2025). DG9 boosts PMO nuclear uptake and exon skipping to restore dystrophic muscle and cardiac function. Nature communications, 16(1), 4477. https://doi.org/10.1038/s41467-025-59494-8