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. Robinson, E., James, M., Hilsden, H., Rufibach, L., Roper, W., Holsten, S., Lowes, L., de Monts, C., Yochai, C., Zabala Pardo, A., Ogasawara, Y., Rudolph, K., Weber, J., Montiel Morillo, E., Birnbaum, S., Rojas Rojas, J., Mayhew, A., & Straub, V. (2024). Poster 96 : The impact of losing the ability to sit to stand on social participation in people with dysferlinopathy: clinical outcome study for dysferlinopathy. Neuromuscular disorders : NMD, 43(S1). https://doi.org/10.1016/j.nmd.2024.07.279

  2. Notarnicola, A., Hellström, C., Horuluoglu, B., Pin, E., Preger, C., Bonomi, F., de Paepe, B., De Bleecker, J. L., van der Kooi, A. J., de Visser, M., Sacconi, S., Machado, P., Badrising, U. A., Rietveld, A., Pruijn, G., Rothwell, S., Lilleker, J. B., Chinoy, H., Benveniste, O., … Lundberg, I. E. (2024). Autoantibodies against a subunit of mitochondrial respiratory chain complex I in inclusion body myositis. Journal of autoimmunity, 149(Epub), 103332. https://doi.org/10.1016/j.jaut.2024.103332

  3. Hässler, S., Lorenzon, R., Binvignat, M., Ribet, C., Roux, A., Johanet, C., Amouyal, C., Amselem, S., Berenbaum, F., Benveniste, O., Cacoub, P., Grateau, G., Hartemann, A., Saadoun, D., Salem, J. E., Sellam, J., Seksik, P., Vicaut, E., Mariotti-Ferrandiz, E., … Klatzmann, D. (2024). Clinical correlates of lifetime and current comorbidity patterns in autoimmune and inflammatory diseases. Journal of autoimmunity, 149. https://doi.org/10.1016/j.jaut.2024.103318

  4. de Frutos, F., Ochoa, J. P., Webster, G., Jansen, M., Remior, P., Rasmussen, T. B., Sabater-Molina, M., Barriales-Villa, R., Girolami, F., Cesar, S., Fuentes-Cañamero, M. E., Alvarez García-Rovés, R., Wahbi, K., Limeres, J., Kubanek, M., Slieker, M. G., Sarquella-Brugada, G., Abrams, D. J., Dooijes, D., … Garcia-Pavia, P. (2024). Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy. Journal of the American Heart Association, 13(21). https://doi.org/10.1161/JAHA.124.036208

  5. Pion, E., Bonne, G., Atalaia, A., Salort-Campana, E., Gorokhova, S., Attarian, S., Cossee, M., & Krahn, M. (2024). L’actionnabilité clinique des gènes : Un concept d’actualité dans le cadre des maladies rares et une première évaluation objective pour les myopathies. médecine/sciences (m/s), 40(HS 1), 6. https://doi.org/10.1051/medsci/2024128

  6. Carraro, U., Alberty, M. S., Anton, S., Barbieri, E., Bersch, I., Blaauw, B., Bosco, G., Forni, R., Ganassi, M., Gargiulo, P., Gentil, P., Gorgey, A. S., Leeuwenburgh, C., Maccarone, M. C., Martini, A., Masiero, S., Mayr, W., Messina, G., Morra, A., … Volk, G. F. (2024). Mobility Medicine: A call to unify hyper-fragmented specialties by abstracts sent to 2025Pdm3, and typescripts to Ejtm3, and Diagnostics. European journal of translational myology, 34(4). https://doi.org/10.4081/ejtm.2024.13432

  7. Barbat du Closel, L., Bonello-Palot, N., Delmont, E., Pereon, Y., Echaniz-Laguna, A., Camdessanché, J. P., Pakleza, A. N., Chanson, J. B., Frachet, S., Magy, L., Cassereau, J., Cintas, P., Choumert, A., Devic, P., Louis, S. L., Tard, C., Sole, G., Salort-Campana, E., Bouhour, F., … Attarian, S. (2024). Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study. European journal of neurology, Epub, e16523. https://doi.org/10.1111/ene.16523

  8. Borget, I., Urtizberea, J. A., Lot, A. S., Affinito, S., Denis, H., Leiba, G., Schmidt, A., Panes, A., Quijano Roy, S., & Desguerre, I. (2024). Real-world data 134 : Healthcare Pathways and Therapeutic Outcomes of Patients With Spinal Muscular Atrophy: Results From the 12-Year Real-World Study EPI-SMA Based on the French National Healthcare Database (SNDS). Neuromuscular disorders : NMD, 27(12). https://doi.org/10.1016/j.jval.2024.10.3692

  9. Hagège, A., Puscas, T., El Hachmi, M., Parodi, A., Bacher, A., Funalot, B., Wahbi, K., Jeunemaitre, X., Damy, T., & Billon, C. (2024). The French hypertrophic cardiomyopathy gene register: A systematic large gene screening for hypertrophic cardiomyopathy. International journal of cardiology, 417. https://doi.org/10.1016/j.ijcard.2024.132542

  10. Bay, P., Pineton de Chambrun, M., Allenbach, Y., Le Pavec, J., Picard, C., Zuber, B., Bunel, V., Hervier, B., Meyer, A., Miyara, M., Brillet, P. Y., Boussouar, S., Declercq, C., Tandjaoui-Lambiotte, Y., Nunes, H., Cottin, V., Hachulla, E., & Uzunhan, Y. (2025). A 24/7 Pilot Remote Emergency Multidisciplinary Discussion For Rapidly Progressive Interstitial Lung Disease: A 2-Years Experience. Chest, Epub. https://doi.org/10.1016/j.chest.2024.07.179

  11. Daire, E., Panaioli, E., Gitiaux, C., Gardin, C., Waldmann, V., Bonnet, D., Wahbi, K., & Khraiche, D. (2025). BAG3-related myofibrillar myopathy: focus on its cardiac involvement. Frontiers in Genetics, 16. https://doi.org/10.3389/fgene.2025.1636999

  12. Needham, M., Badrising, U. A., Beer, K., Heim, A. J., Doverty, A., Panicker, A., Benveniste, O., & Dimachkie, M. M. (2025). Challenges in international investigator-led rare disease clinical trials and the case for optimism in inclusion body myositis. Clinical and experimental rheumatology, 43(2). https://doi.org/10.55563/clinexprheumatol/dyjcsn

  13. Underhill, A., Webb, S., Grandi, F. C., Jeng, J. Y., de Monvel, J. B., Plion, B., Carlton, A. J., Amariutei, A. E., Voulgari, N., De Faveri, F., Ceriani, F., Mustapha, M., Johnson, S. L., Safieddine, S., Kros, C. J., & Marcotti, W. (2025). MYO7A is required for the functional integrity of the mechanoelectrical transduction complex in hair cells of the adult cochlea. Proceedings of the national Academy of sciences of the United States of America, 122(1). https://doi.org/10.1073/pnas.2414707122

  14. Leterrier, C., & Vassilopoulos, S. (2025). Plongée au coeur de l’endocytose axonale. médecine/sciences (m/s), 41(6-7), 537-539. https://doi.org/10.1051/medsci/2025088

  15. Sébert, A. L., Gargiulo, M., de Lonlay, P., Arnoux, J. B., Vaiman, D., Bensimon, C., & Araneda, M. (2025). Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review. Frontiers in psychology, 16, 1564032. https://doi.org/10.3389/fpsyg.2025.1564032

  16. Lauletta, A., de Le Hoye, L., Leonard-Louis, S., Garibaldi, M., Allenbach, Y., & Benveniste, O. (2025). Refining the clinical and therapeutic spectrum of granulomatous myositis from a large cohort of patients. Journal of neurology, 272(2). https://doi.org/10.1007/s00415-024-12748-9

  17. Delgado-Chaves, F. M., Jennings, M. J., Atalaia, A., Wolff, J., Horvath, R., Mamdouh, Z. M., Baumbach, J., & Baumbach, L. (2025). Transforming literature screening: The emerging role of large language models in systematic reviews. Proceedings of the national Academy of sciences of the United States of America, 122(2). https://doi.org/10.1073/pnas.2411962122

  18. Bertini, A., Reilly, M. M., Pisciotta, C., Previtali, S. C., Parman, Y., Battaloglu, E., Laura, M., Blake, J., Sacconi, S., Attarian, S., Stojkovic, T., Bellatache, M., Nouioua, S., Tazir, M., Cakar, A., Gambardella, A., Valentino, P., Lewis, R. A., Horvath, R., … Pareyson, D. (2025). Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13. European journal of neurology, 32(2). https://doi.org/10.1111/ene.70084

  19. Cortese, A., Dohrn, M. F., Currò, R., Negri, S., Lassuthova, P., Pisciotta, C., Tozza, S., Al-Ajmi, A., Feng, C., Tomaselli, P. J., Fernandez-Eulate, G., Haddad, S., Laura, M., Rossor, A. M., Vegezzi, E., Facchini, S., Sleigh, J. N., Rebelo, A., Beijer, D., … Zuchner, S. (2025). Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD. Brain : a journal of neurology. https://doi.org/10.1093/brain/awaf021

  20. Villar-Quiles, R. N., Bouaoud, J., Foy, J. P., Behin, A., Masingue, M., Nguyen, T. M., Iniesto, M., Stojkovic, T., & Idbaih, A. (2025). Improving Examination Skills in Neuromuscular Disorders Through an Educational Video. The clinical teacher, 22(1). https://doi.org/10.1111/tct.70024