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. Quere, B., Bourhis, A., Hemon, P., Pers, J. O., Noury, J. B., Marcorelles, P., Guellec, D., Allenbach, Y., Mariampillai, K., Leonard-Louis, S., Sanges, S., Machet, T., Astouati, Q., Maurage, C. A., Nocturne, G., Adam, C., Meyer, A., Lannes, B., Urbanski, G., … Cornec, D. (2026). The immune cell landscape analyzed by imaging mass cytometry in the muscle of patients with inclusion body myositis associated or not with Sjögren’s disease. Rheumatology (Oxford, England). https://doi.org/10.1093/rheumatology/keag016

  2. Golini, E., Huguet-Lachon, A., Benyamine, H., Forasté Gueriba, N., Scavizzi, F., Raspa, M., Falcone, G., Cardinali, B., Mandillo, S., & Gourdon, G. (2026). Translational behavioral phenotypes in DMSXL mice for CNS manifestations of DM1. Journal of Neuromuscular Diseases. https://doi.org/10.1177/22143602251410998

  3. Warman-Chardon, J., Straub, V., Vissing, J., Schlaeger, S., & Kan, H. E. (2025). 286th ENMC international workshop: Muscle imaging: artificial intelligence, automatic segmentation and imaging data sharing in neuromuscular disease. Hoofddorp, The Netherlands, 7-9 March 2025. Neuromuscular disorders : NMD, 60(Epub). https://doi.org/10.1016/j.nmd.2025.106304

  4. la Fontaine, L. A., van As, D., Bassez, G., Johnson, N. E., Faber, C. G., & Hoen, P. A. C. '. (2025). 287th ENMC international workshop: Harmonization and federated analysis of myotonic dystrophy registries to model heterogeneous disease trajectories. Hoofddorp, the Netherlands, 28-30 March 2025. Neuromuscular disorders : NMD, 58(Epub), 106257. https://doi.org/10.1016/j.nmd.2025.106257

  5. Kools, J., Korngut, L., Petrillo Ballantyne, J., Roozen, I., de Haas, R., Hill, A., Evangelista, T., Sansone, V. A., Roxburgh, R., Lochmuller, H., Statland, J., Johnson, N. E., & Voermans, N. (2025). A toolkit for new facioscapulohumeral muscular dystrophy trial sites. Journal of Neuromuscular Diseases, Epub. https://doi.org/10.1177/22143602251399244

  6. Gentile, L., Nasir, A., Simon, L., Timoner, A., Péron, A., Sinane, M., Conan, P., Boulinguiez, A., Ückert, A. K., Leist, M., Trollet, C., Friocourt, G., Bihel, F., & Voisset, C. (2025). Anti-prion drugs reduce endoplasmic reticulum stress and protect human dopaminergic neurons from death. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 193. https://doi.org/10.1016/j.biopha.2025.118758

  7. Nordlinger, A., Morin, L., Andrieux, A., Trani, J. P., Perrin, P., Eudes, N., Bigot, A., Dejean, A., & Magdinier, F. (2026). Chemical inhibition of SUMOylation activates the FSHD locus. Scientific Reports. https://doi.org/10.1038/s41598-025-33624-0

  8. Lad, H., Tiper, Y., Esteban, E. M., Singh, M. K., Mahoudeau, A., Xie, Z., Tendrel, B., Allenbach, Y., Benveniste, O., & Gilbert, P. M. (2025). Complement-independent pathogenic influences of anti-HMGCR + and anti-SRP + immune-mediated necrotizing myopathy autoantibodies on engineered muscle function. Skeletal Muscle, Epub. https://doi.org/10.1186/s13395-025-00400-7

  9. Bonin, L., Hedouin, M., Furman, C., Not, O., Lancel, S., Bensalah, M., Coadou, G., Boulanger, E., Shova, S., Oulyadi, H., & Ghinet, A. (2025). Development of New Benzo[b]Thiophene-2-Carboxamide Derivatives as Advanced Glycation End-Products Receptor (RAGE) Antagonists. ChemMedChem, Epub. https://doi.org/10.1002/cmdc.202500503

  10. Palmieri, L., Bimbi, G., Ferrand, M., Marcello, M., Pili, L., Hong, A. V., Jaber, A., El-Khoury, R., Brochier, G., Bigot, A., Israeli, D., Richard, I., & Albini, S. (2026). Disease exacerbation in human DMD MYOrganoids enables gene therapy evaluation and unveils persistence of fibrotic activity. NPJ Regenerative medicine, 11(1). https://doi.org/10.1038/s41536-025-00445-8

  11. Odria, R., Mercado-Amarilla, A., Soler-Botija, C., Borràs, D. M., Ohana, J., Maestre-Mora, P., Bigot, A., Suarez-Calvet, X., Gallardo, E., Nogales-Gadea, G., & Suelves, M. (2025). HDAC11 deficiency improves muscle phenotype in a Duchenne muscular dystrophy murine model by reducing inflammation and fibrosis. Life sciences, 386, 124150. https://doi.org/10.1016/j.lfs.2025.124150

  12. Horita, S. I. M., Bensalah, M., Bigot, A., Mamchaoui, K., Butler Browne, G. S., Beghini, D. G., Savino, W., Trollet, C., Mouly, V., Negroni, E., Henriques Pons, A., & Riederer, I. (2025). Human Laminin-111-Derived AG73 Increases Proliferation, Migration, and Differentiation of Human Myoblasts: A Promising Candidate in Regenerative Medicine. ACS omega, 10(48). https://doi.org/10.1021/acsomega.5c06289

  13. Koon, A. C., Yeung, K. Y. W., Wu, Y., Leong, L. I., Cheung, J. T. P., Chen, Z. S., Peng, S. I., Armstrong, N. S., Frank, C. A., Magneron, P., Gomes-Pereira, M., Fung, J. M. S., Bargiela, A., Moreno, N., Poyatos-García, J., Vilchez, J., Huguet-Lachon, A., Brewer, C. K., Zinter, M., … Chan, H. Y. E. (2025). Pre- and postsynaptic upregulation of FasII synergistically underlies neuropathological and behavioral phenotypes in a Drosophila model of myotonic dystrophy. Nature communications. https://doi.org/10.1038/s41467-025-67738-w

  14. Benarroch, L., Bonne, G., Rivier, F., Procaccio, V., & Hamroun, D. (2025). The 2026 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscular disorders : NMD, Epub, 106303. https://doi.org/10.1016/j.nmd.2025.106303

  15. Altin, N., Mamchaoui, K., Ohana, J., Bigot, A., Corradi, B., Maragliano, L., Madia, F., Ognibene, M., Nosrati, M. S. S., Paladini, D., Iacomino, M., Rashid, A., Bodamer, O., Quijano-Roy, S., Punetha, J., Capra, V., Zara, F., Trollet, C., & Scala, M. (2025). The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy. Human mutation, 2025, 1785045. https://doi.org/10.1155/humu/1785045

  16. Evangelista, T., Ali, H., Handberg, C., Sejersen, T., Quinlivan, R., Moroni, I., Masingue, M., Quijano-Roy, S., Atalaia, A., Schara-Schmidt, U., & Claeys, K. G. (2025). Transition from childhood to adulthood in neuromuscular disorders: results from the ERN EURO-NMD survey. Orphanet journal of rare diseases. https://doi.org/10.1186/s13023-025-04144-x

  17. Poleur, M., Gidaro, T., Delstanche, S., Gurruchaga, J. M., Tricot, A., Bancel, L., Palfi, S., Servais, L., & Degos, B. (2025). Wearable inertial device for monitoring Parkinson’s disease symptoms: a pilot study in a controlled environment. Scientific Reports, Epub. https://doi.org/10.1038/s41598-025-28927-1

  18. Urtizberea, J. A., Nda'h-Sekou, G., Nouioua, S., Alao, M. J., Maïga, A. B., Fode-Cisse, A., Lumaka, A., Rodriguez, P., & Leturcq, F. (2025). Africa miologica: terra quasi incognita? Medecine sciences : M/S, 41(HS 2), 72. https://doi.org/10.1051/medsci/2025172

  19. Sarparanta, J., Jonson, P. H., Vihola, A., Luque, H., Villar-Quiles, R. N., Stojkovic, T., Sian, V., Walder, C., Suominen, T., Hackman, P., Romero, N. B., Eymard, B., & Udd, B. (2025). C-terminal extension of HSPB6 in a family with myopathy and cataract. Human molecular genetics. View publication

  20. Stojkovic, T., & Bitoun, M. (2025). Chevauchement génétique entre neuropathies et myopathies : vers une convergence des deux entités. Medecine sciences : M/S, 41(HS 2), 6. https://doi.org/10.1051/medsci/2025169