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. Misdrahi, S., Louet, E., Gargiulo, M., & De Luca, M. (2025). Le trouble neurologique fonctionnel : Une élaboration de l’atteinte traumatique ? European Journal of Trauma & Dissociation, 6(1). https://doi.org/10.1016/j.ejtd.2025.100518

  2. Badrising, U. A., Henderson, R., Reddel, S., Corbett, A., Liang, C., Reardon, K., Ghaoui, R., Bulsara, M., Brady, S., Brusch, A., Chan, D., Coudert, J. D., Fairchild, T., Jain, G., Kiernan, M. C., Leonard, D., Lloyd, T., Schmidt, J., McDermott, M. P., … Needham, M. (2025). Optimism in inclusion body myositis: a double-blind randomised controlled phase III trial investigating the effect of sirolimus on disease progression in patients with IBM as measured by the IBM Functional Rating Scale. Clinical and experimental rheumatology, 43(2). https://doi.org/10.55563/clinexprheumatol/zvffa0

  3. Astouati, Q., Machet, T., Houssais, C., Noury, J. B., Allenbach, Y., Gallay, L., Quere, B., Assan, F., Benveniste, O., Broner, J., Duffau, P., Espitia, A., Grasland, A., Hayem, G., Guern, V. L., Martis, N., Mariampillai, K., Nocturne, G., Mariette, X., … Sanges, S. (2025). Inclusion-body myositis associated with Sjögren’s disease: clinical characteristics and comparison with other Sjögren-associated myositis. Rheumatology (Oxford, England). https://doi.org/10.1093/rheumatology/keae129

  4. Leclech, C., Cardillo, G., Roellinger, B., Zhang, X., Frederick, J., Mamchaoui, K., Coirault, C., & Barakat, A. I. (2025). Micro-Scale Topography Triggers Dynamic 3D Nuclear Deformations. Advanced science (Weinheim, Baden-Wurttemberg, Germany), 12(11). https://doi.org/10.1002/advs.202410052

  5. Ravara, B., Gargiulo, P., Hood, D., Larsson, L., Leeuwenburgh, C., Maccarone, M. C., Masiero, S., Perrin, P., Pond, A., Rosati, R., Smeriglio, P., Sweeney, L., Tavian, D., Volk, G. F., & Carraro, U. (2025). Padua Days on Muscle and Mobility Medicine, March 25-29, 2025, Hotel Petrarca, Euganean Thermae, Italy: Program and Abstracts. European journal of translational myology, 35(1). https://doi.org/10.4081/ejtm.2025.13789

  6. Bailly, G., Robert-Halabi, M., Vion, P. A., Allenbach, Y., Abbar, B., Bretagne, M., & Salem, J. E. (2025). Rechallenge After Severe Immune Checkpoint Inhibitor Myocarditis: Venturing Into the Unknown. JACC. CardioOncology, 7(3), 300. https://doi.org/10.1016/j.jaccao.2025.02.004

  7. Hermida, A., Jedraszak, G., Ader, F., Denjoy, I., Fressart, V., Maury, P., Beyls, C., Bloch, A., Clerici, G., Daire, E., Defaye, P., Dupin-Deguine, D., Garçon, L., Klug, D., Ginglinger, E., Hermida, J. S., Jesel, L., Khraiche, D., Kubala, M., … Gandjbakhch, E. (2025). Systematic analysis of SCN5A variants associated with inherited cardiac diseases. Heart rhythm, 22(3), 844-851. https://doi.org/10.1016/j.hrthm.2024.08.018

  8. Sinke, L., Beekman, M., Raz, Y., Gehrmann, T., Moustakas, I., Boulinguiez, A., Lakenberg, N., Suchiman, E., Bogaards, F. A., Bizzarri, D., van den Akker, E. B., Waldenberger, M., Butler-Browne, G., Trollet, C., de Groot, C. P. G. M., Heijmans, B. T., & Slagboom, P. E. (2025). Tissue-specific methylomic responses to a lifestyle intervention in older adults associate with metabolic and physiological health improvements. Aging cell, 24(4). https://doi.org/10.1111/acel.14431

  9. Tollitt, B. R., Jones, S. W., Ohana, J., Henstock, J. R., Jackson, M. J., & McArdle, A. (2025). A comparison of human skeletal muscle cell maturation in 2D versus 3D culture: A quantitative proteomic study. Physiological reports, 13(12). https://doi.org/10.14814/phy2.70420

  10. Lopez-Martinez, A., Martín-González, S., Torres-Conde, N., Alcalá-Manso, N., Al-Ani, A., Lopez de Munain, A., Bigot, A., Mamchaoui, K., Nogales-Gadea, G., & Arechavala-Gomeza, V. (2025). Characterization of DMPK and MBNL1 expression in cell models of myotonic dystrophy: a platform for drug screening. NAR molecular medicine, 2(3). https://doi.org/10.1093/narmme/ugaf023

  11. Roellinger, B., Thenier, F., Leclech, C., Coirault, C., Angelini, E., & Barakat, A. I. (2025). Clustering cell nuclei on microgrooves for disease diagnosis using deep learning. Scientific Reports, 15(1). https://doi.org/10.1038/s41598-025-05788-2

  12. Della Marina, A., Rink, L., Hentschel, A., Schündeln, M. M., Nelke, C., Kolbel, H., Tucht, C., Dobelmann, V., Ruck, T., Hagenacker, T., Evangelista, T., Schara-Schmidt, U., & Roos, A. (2025). Co-occurrence of myositis and neuropathy after anti-CD30 therapy in a late-adolescent Hodgkin lymphoma patient. Acta neuropathologica communications, 13(1), 140. https://doi.org/10.1186/s40478-025-02056-2

  13. Ricci, G., Torri, F., Ruggiero, L., Vercelli, L., Gadaleta, G., Rolle, E., Risi, B., Carraro, E., Evangelista, T., Bugiardini, E., Dubuisson, N., Voermans, N., Siciliano, G., Mongini, T., & Filosto, M. (2025). Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, Epub. https://doi.org/10.1007/s10072-025-08276-7

  14. Lauletta, A., Bosco, L., Merlonghi, G., Falzone, Y. M., Cheli, M., Bencivenga, R. P., Zoppi, D., Ceccanti, M., Kleefeld, F., Leonard-Louis, S., Stenzel, W., Benveniste, O., Maggi, L., Previtali, S. C., & Garibaldi, M. (2025). Mitochondrial pathology in inflammatory myopathies: a marker of worse clinical outcome. Journal of neurology, 272(7), 480. https://doi.org/10.1007/s00415-025-13192-z

  15. Trundle, J., Boulinguiez, A., Lu-Nguyen, N., March, J., Malerba, A., & Popplewell, L. (2025). Periostin Exon 17 Skipping Enhances the Efficacy of Local Adeno-Associated Viral-Microdystrophin Administration in a Fibrotic Model of Duchenne Muscular Dystrophy. Human gene therapy. https://doi.org/10.1089/hum.2024.256

  16. Venot, Q., Firpion, M., Ladraa, S., Bayard, C., Magassa, S., Di Guardo, R., Fraissenon, A., Hoguin, C., Protic, S., Morin, G., Mayeux, F., Gourdon, G., Fraitag, S., Balducci, E., Kaltenbach, S., Villarese, P., Asnafi, V., Viel, T., Autret, G., … Canaud, G. (2025). PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect. Proceedings of the national Academy of sciences of the United States of America, 122(26). https://doi.org/10.1073/pnas.2424867122

  17. Smith, Z. H., Fitzgerald, L. F., Nagarajan, R., Hayes, K. L., Meyerspeer, M., Lopez Kolkovsky, A. L., & Kent, J. A. (2025). Does lower oxidative capacity influence the relative contributions of ATP-producing pathways during muscular work in aging? The journals of gerontology. Series A, Biological sciences and medical sciences, 80(8). https://doi.org/10.1093/gerona/glaf142

  18. Combemale, L., Wery, A. R., Bohelay, G., Zerrari, M., Culerrier, J., Dhote, R., Martins-Bexiga, A., Bardier, A., Diep, A., Allenbach, Y., Caux, F., & Benveniste, O. (2025). Eculizumab as rescue therapy in refractory anti-NXP2 dermatomyositis with digestive vasculitis and gastrointestinal perforation: report of two cases. Rheumatology (Oxford, England). https://doi.org/10.1093/rheumatology/keaf431

  19. Röckel, M., Musella, L., Preusse, C., Radke, J., Zimmer, L., Thoms, K. M., Dimitriou, F., Endres, M., Bohmerle, W., Fröhlich, W., Tayb-Boulahfa, S., Leonard-Louis, S., Allenbach, Y., Berking, C., Stenzel, W., Knauss, S., Vera, J., & Heinzerling, L. (2025). Gene expression and molecular pathway analyses differentiate immunotherapy-induced myositis from spontaneous dermatomyositis. Scientific Reports, 15(1). https://doi.org/10.1038/s41598-025-11944-5

  20. Lejars, M., Kabore, C., Marande, B., Brulle-Soumare, L., Lallouche, N., Wahbi, K., Malfatti, E., Evangelista, T., Kassar, L. E., Fragner, P., Giraud-Triboult, K., Hoch, L., Nissan, X., & Miagoux, Q. (2025). Generation and characterization of three human induced pluripotent stem cell lines from patients with glycogen storage disease type II. Stem cell research, 88(Epub), 103823. https://doi.org/10.1016/j.scr.2025.103823