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. Hovhannisyan, Y., Li, Z., Callon, D., Suspène, R., Batoumeni, V., Canette, A., Blanc, J., Hocini, H., Lefebvre, C., El-Jahrani, N., Kitsara, M., L'Honoré, A., Kordeli, E., Fornes, P., Concordet, J. P., Tachdjian, G., Rodriguez, A. M., Vartanian, J. P., Behin, A., … Agbulut, O. (2024). Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation. Stem cell research & therapy, 15(1). https://doi.org/10.1186/s13287-023-03619-7

  2. Palmieri, L., Pili, L., Jaber, A., Moula, M., Hong, A. V., El-Khoury, R., Brochier, G., Bigot, A., Israeli, D., Richard, I., & Albini, S. (2024). Disease Exacerbation in 3D MYOtissues Derived From Duchenne Muscular Dystrophy iPSC Reveals Muscle Strength Loss and Enables Gene Therapy Screening. 32(4), 340. https://doi.org/10.1016/j.ymthe.2024.04.020

  3. Soulat, G., Mousseaux, E., & Wahbi, K. (2024). Editorial for “Association Between Myocardial Oxygenation and Fibrosis in Duchenne Muscular Dystrophy: Analysis by Rest Oxygenation-Sensitive Magnetic Resonance Imaging”. Journal of magnetic resonance imaging : JMRI, Epub. https://doi.org/10.1002/jmri.29285

  4. Maitre, T., Camuset, J., Faure, M., Cracco, C., Maalouf, G., Allenbach, Y., Barral, M., Fekkar, A., Giol, M., Parrot, A., & Cadranel, J. (2024). Enhancing antifungal treatment for chronic cavitary pulmonary aspergillosis through the addition of endobronchial valve therapy. Respiratory medicine case reports, 52. https://doi.org/10.1016/j.rmcr.2024.102106

  5. Vissing, J., Stojkovic, T., Straub, V., Preisler, N., Holm-Yildiz, S., Querin, G., Hogrel, J. Y., James, M., Ghimenton, E., Richard, I., & Olivier, S. (2024). Gene therapy for LGMDR9: preliminary results of a dose-escalation study. 35(3). https://doi.org/10.1089/hum.2023.29258.abstract

  6. Joanne, P., Hovhannisyan, Y., Simon, A., Revet, G., Diot, R., Friob, G., Calin, D., Li, Z., Behin, A., Wahbi, K., Tachdjian, G., & Agbulut, O. (2024). Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene. Stem cell research, 76(Epub), 103338. https://doi.org/10.1016/j.scr.2024.103338

  7. Gourbeyre-Masson, K., Landon-Cardinal, O., Benveniste, O., & Allenbach, Y. (2024). Intravenous Immunoglobulins in Idiopathic Inflammatory Myopathies: Where Are We? Current treatment options in rheumatology, 10. https://doi.org/10.1007/s40674-023-00214-y

  8. Lemmers, R. J. L. F., Butterfield, R., Van der Vliet, P., De Bleecker, J., van der Pol, W. L., Erasmus, C., D’Hooghe, M., Verhoeven, K., Balog, J., van Engelen, B., Statland, J., Bugiardini, E., van der Stoep, N., Teresinha, E., Bettolo, C. M., van den Bergh, P., Tawil, R., Voermans, N., Vissing, J., … van der Maarel, S. M. (2024). P14.026.B Dominantly pathogenic cis D4Z4 repeat duplications in FSHD. 32, 602. https://doi.org/10.1038/s41431-023-01482-x

  9. Daumer, M., Cotinate, M., Christian, L., Heesen, C., Schoser, B. G. H., Hogrel, J. Y., & Stellmann, J. P. (2024). Poster 1567 : Learning from Duchenne muscular dystrophy: towards real-world walking speed as Phase III endpoint in MS. Multiple Sclerosis Journal, 30(3), 992. https://doi.org/10.1177/1352458524126922

  10. Parodi, A., Puscas, T., Réant, P., Donal, E., M'Barek Raboudi, D., Billon, C., Bacher, A., El Hachmi, M., Wahbi, K., Jeunemaitre, X., & Hagège, A. (2024). Target population for a selective cardiac myosin inhibitor in hypertrophic obstructive cardiomyopathy: Real-life estimation from the French register of hypertrophic cardiomyopathy (REMY). Archives of Cardiovascular Diseases, 117(6-7), 427. https://doi.org/10.1016/j.acvd.2024.04.001

  11. Theuriet, J., Masingue, M., Behin, A., Ferreiro, A., Bassez, G., Jaubert, P., Tarabay, O., Fer, F., Pégat, A., Bouhour, F., Svahn, J., Petiot, P., Jomir, L., Chauplannaz, G., Cornut-Chauvinc, C., Manel, V., Salort-Campana, E., Attarian, S., Fortanier, E., … Eymard, B. (2024). Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis. Brain : a journal of neurology. https://doi.org/10.1093/brain/awae124

  12. Lopez Kolkovsky, A. L., Matot, B., Baudin, P. Y., Caldas de Almeida Araujo, E., Reyngoudt, H., Marty, B., & Fromes, Y. (2024). Multiparametric Aging Study Across Adulthood in the Leg Through Quantitative MR Imaging, 1H Spectroscopy, and 31P Spectroscopy at 3T. Journal of magnetic resonance imaging : JMRI, Epub. https://doi.org/10.1002/jmri.29368

  13. Oyama, M., Holzer, M. T., Ohnuki, Y., Saito, Y., Nishimori, Y., Suzuki, S., Shiina, T., Leonard-Louis, S., Benveniste, O., Schneider, U., Stenzel, W., Nishino, I., Suzuki, S., & Uruha, A. (2024). Pathologic Features of Anti-Ku Myositis. Neurology, 102(8). https://doi.org/10.1212/WNL.0000000000209268

  14. Fernandez-Eulate, G., Alfieri, G., Spinazzi, M., Ackermann-Bonan, I., Duval, F., Sole, G., Caillon, F., Mercier, S., Pereon, Y., Magot, A., Pégat, A., Salort-Campana, E., Chabrol, B., Gorokhova, S., Krahn, M., Biancalana, V., Evangelista, T., Behin, A., Metay, C., & Stojkovic, T. (2024). Phenotype variability and natural history of X-linked myopathy with excessive autophagy. Journal of neurology. https://doi.org/10.1007/s00415-024-12298-0

  15. Germani, S., Van Ho, A. T., Cherubini, A., Varone, E., Chernorudskiy, A., Renna, G. M., Fumagalli, S., Gobbi, M., Lucchetti, J., Bolis, M., Guarrera, L., Craparotta, I., Rastelli, G., Piccoli, G., de Napoli, C., Nogara, L., Poggio, E., Brini, M., Cattaneo, A., … Zito, E. (2024). SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA. Cell reports. Medicine. https://doi.org/10.1016/j.xcrm.2024.101439

  16. Mirabel, M., Eslami, A., Thibault, C., Oudard, S., Mousseaux, E., Wahbi, K., Fabre, E., Terrier, B., Marijon, E., Villefaillot, A., Fayol, A., Dragon-Durey, M. A., Le Louet, A. L., Bruno, R. M., Soulat, G., & Hulot, J. S. (2024). Adverse myocardial and vascular side effects of immune checkpoint inhibitors: a prospective multimodal cardiovascular assessment. Clinical research in cardiology : official journal of the German Cardiac Society, 113(8), 1263. https://doi.org/10.1007/s00392-024-02462-x

  17. Engal, E., Sharma, A., Aviel, U., Taqatqa, N., Juster, S., Jaffe-Herman, S., Bentata, M., Geminder, O., Gershon, A., Lewis, R., Kay, G., Hecht, M., Epsztejn-Litman, S., Gotkine, M., Mouly, V., Eiges, R., Salton, M., & Drier, Y. (2024). DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis. Science advances, 10(22). https://doi.org/10.1126/sciadv.adn7732

  18. Pegoraro, F., Papo, M., Cohen-Aubart, F., Peyronel, F., Lugli, G., Trambusti, I., Baulier, G., de Menthon, M., Le Scornet, T., Oziol, E., Ferreira-Maldent, N., Hermine, O., Faucher, B., Koschel, D., Straetmans, N., Abisror, N., Terrier, B., Lifermann, F., Razanamahery, J., … Haroche, J. (2024). Long-term outcome and prognosis of mixed histiocytosis (Erdheim-Chester disease and Langerhans Cell Histiocytosis). EClinicalMedicine, 73. https://doi.org/10.1016/j.eclinm.2024.102658

  19. Bourhis, A., Robin, M., Nguyen, S., Uguen, A., Hemon, P., Dhedin, N., Maisonobe, T., De Masson, A., Benveniste, O., Socie, G., Peffault de La Tour, R., Leonard-Louis, S., & Hervier, B. (2024). Myopathy related to chronic Graft-Versus-Host Disease: From clinic to histological & immunological characterization by imaging mass cytometry. American journal of hematology, 99(6), 1187. https://doi.org/10.1002/ajh.27294

  20. Kaminskiene, P., Stojkovic, T., Roos-Weil, D., Reimbold, P., Chanut, A., Lacene, E., & Evangelista, T. (2024). Rapidly progressive myopathy: unveiling light Chain amyloidosis as an initial manifestation of multiple myeloma. A case report and literature review. Neuromuscular disorders : NMD, 41. https://doi.org/10.1016/j.nmd.2024.06.002