NOS PROJETS DE RECHERCHE

Dernières publications

Nos experts scientifiques et cliniques participent régulièrement à des projets de recherche qui font l’objet d’articles dans des revues scientifiques de renom. Ces publications sont extraites de PubMed® et de Web of Science® (Myodoc, AFM-Téléthon)

556 publications

  1. Roger, K., Metatla, I., Ceccacci, S., Wahbi, K., Motte, L., Chhuon, C., & Guerrera, I. C. (2025). Mining the plasma proteome: Evaluation of enrichment methods for depth and reproducibility. Journal of Proteomics, 321. https://doi.org/10.1016/j.jprot.2025.105519

  2. Moreno, N., Sabater-Arcis, M., Espinosa-Espinosa, J., Mulet-Rivero, L., Garcia-España, E., González-García, J., Seoane-Miraz, D., Wood, M. J. A., Varela, M. A., Ohana, J., Sevilla, T., Perez Alonso, M., Bargiela, A., & Artero, R. (2025). miR-107 represses DMPK and is sequestered by CUG repeats triggering the MSI2/miR-7 pathogenesis axis in myotonic dystrophy. Molecular therapy. Nucleic acids, 36(3), 102584. https://doi.org/10.1016/j.omtn.2025.102584

  3. Gaudet, I., Gagnon, S. P., Hamel, S., Gilbert, N., Doulou, F., Gagnon, C., & Angeard, N. (2025). Neuropsychological and behavioral outcomes in childhood-onset myotonic dystrophy type 1 through lifespan: a scoping review. Neuromuscular disorders : NMD, 56-57(Epub), 106263. https://doi.org/10.1016/j.nmd.2025.106263

  4. Ranta-Aho, J., Cetrangolo, V., Bello, L., Capece, G., Pegoraro, E., Feo, M. F. D., Mihaylova, V., Jung, H. H., Hauw, F., Stojkovic, T., Behin, A., Romero, N., Maisonobe, T., Lucchini, M., Oliveira Santos, M., Mirabella, M., Tasca, G., Savarese, M., Udd, B., & Johari, M. (2025). Novel missense variants associated with GNE myopathy. Neuromuscular disorders : NMD, 56-57(Epub), 106258. https://doi.org/10.1016/j.nmd.2025.106258

  5. Lalout, N., Wilkinson, M. D., Wandrei, D., Tassoni, A., Atalaia, A., Prieto, M., Camara, A., Quemada, E., Franken, M., Jonker, A. H., Paliouras, G., Siminiuc, S., Carta, C., Dos Santos Vieira, B., Roos, M., Kaliyaperumal, R., Evangelista, T., 't Hoen, P. A. C., & Vroom, E. (2025). The FAIR journey of a patient-driven registry: Reflections and practical solutions from the Duchenne Data Platform FAIRification experience. Journal of Neuromuscular Diseases, Epub. https://doi.org/10.1177/22143602251382969

  6. Ross, J. E., Flowers, M., McNulty, S., Patel, M., Yang, H., Palus, B., Abdelmoneim Elnagheeb, M., Eng, L., Owens, E., Beggs, A. H., Bertini, E., D'Amico, A., Donkervoort, S., Dowling, J., Fattori, F., Ferreiro, A., Genetti, C. A., Gonorazky, H., Lek, M., … Ceyhan-Birsoy, O. (2025). Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel. Journal of Neuromuscular Diseases, 12(6), 778-792. https://doi.org/10.1177/22143602251339369

  7. Billon, C., Millat, G., Goudal, A., Malan, V., Khraiche, D., Wahbi, K., Ferrier, N., Eicher, J. C., Tixier, R., Benbrik, N., Bouchot, O., Gaudillat, L., Venisse, A., Berthome, P., Jeunemaitre, X., & Bonnet, D. (2025). Dilated cardiomyopathy in patients with PRDM16 haploinsufficiency. Journal of molecular medicine (Berlin, Germany), 103(11-12), 1417. https://doi.org/10.1007/s00109-025-02586-1

  8. Crisol, B. (2025). Dynamique du protéome du liquide interstitiel dans le muscle squelettique humain après un exercice exhaustif. Medecine sciences : M/S, 41(HS 2), 78. https://doi.org/10.1051/medsci/2025179

  9. Gargiulo, M., & Andrieu, B. (2025). Éditorial. L'Évolution Psychiatrique, 90(4). https://doi.org/10.1016/j.evopsy.2025.10.001

  10. Tomkinson, G. R., Lang, J. J., Rubin, L., McGrath, R., Gower, B., Boyle, T., Klug, M. G., Mayhew, A. J., Blake, H. T., Ortega, F. B., Cadenas-Sanchez, C., Magnussen, C. G., Fraser, B. J., Kidokoro, T., Liu, Y., Christensen, K., & Leong, D. P. (2025). International norms for adult handgrip strength: A systematic review of data on 2.4 million adults aged 20 to 100+ years from 69 countries and regions. Journal of sport and health science, 14. https://doi.org/10.1016/j.jshs.2024.101014

  11. Beaujard, B., Behin, A., Gargiulo, M., & Castillo, M. C. (2025). Revue semi-systématique de la littérature sur l’annonce d’une maladie neuromusculaire à l’âge adulte. L'Évolution Psychiatrique, 700. https://doi.org/10.1016/j.evopsy.2024.02.003

  12. Labella, B., Brochier, G., Beuvin, M., Lacene, E., Chanut, A., Madelaine, A., Labasse, C., Méneret, A., Roos, A., Kolbel, H., Levine, A., Yoon, G., Svahn, J., Bouhour, F., Streichenberger, N., Nadaj-Pakleza, A., Malfatti, E., Bassez, G., Behin, A., … Evangelista, T. (2025). Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review. Journal of Neuromuscular Diseases, Epub. https://doi.org/10.1177/22143602251393910

  13. Villar-Quiles, R. N., Hayes, L. H., Raga, S., Bonnemann, C., Oates, E., Dowling, J., & Ferreiro, A. (2025). 277th ENMC international workshop: Congenital myopathies: revising and revisiting nomenclature and diagnostic guidelines, 21-23 June 2024, Hoofddorp, The Netherlands. Neuromuscular disorders : NMD, 60, 106328. https://doi.org/10.1016/j.nmd.2025.106328

  14. Wahbi, K. (2025). Cardiac care in Duchenne muscular dystrophy. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 32(7S1), 7S20. https://doi.org/10.1016/S0929-693X(25)00249-0

  15. Campeanu, A., Lamamri, M., Loeb, J., Constantin, J. M., Langeron, O., Quesnel, C., Chapart, M., Vasseur, S., Riou, B., Bougle, A., & Coirault, C. (2025). Differential regulation of proteolytic pathways in the diaphragm during mechanical ventilation. Respiratory medicine, 251. https://doi.org/10.1016/j.rmed.2025.108577

  16. Desguerre, I., Glandier, R., Lejeune, J., Ben Yaou, R., Leturcq, F., Tuffery-Giraud, S., & Wahbi, K. (2025). Duchenne muscular dystrophy: the French Dystrophinopathies Registry (DYS Registry). Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 32(7S1), 7S10-7S14. https://doi.org/10.1016/S0929-693X(25)00247-7

  17. Leturcq, F., Verebi, C., & Nectoux, J. (2025). Genetic counseling, prenatal diagnosis and newborn screening in Duchenne muscular dystrophy. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 32(7S1), 7S64. https://doi.org/10.1016/S0929-693X(25)00256-8

  18. Angeard, N. (2025). Neuropsychological management in Duchenne muscular dystrophy: A critical overview and future directions. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 32(7S1), 7S39. https://doi.org/10.1016/S0929-693X(25)00252-0

  19. Batonnet-Pichon, S., Delort, F., Lilienbaum, A., Berwanger, C., Schultheis, D., Schlötzer-Schrehardt, U., Schmidt, A., Uebe, S., Baiche, Y., Eisenack, T. J., Trentini, D. B., Mallek, M., Mill, L., Ferreiro, A., Eberhard, B., Lucke, T., Krüger, M., Thiel, C., Schröder, R., & Clemen, C. S. (2025). R405W Desmin Knock-In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy. Journal of cachexia, sarcopenia and muscle, 16(6). https://doi.org/10.1002/jcsm.70094

  20. Zamperoni, M., Muraine, L., Tran, M. Y., Granados, A., Bigot, A., Petit, V., Bensalah, M., Ohana, J., Legros, V., Boyarchuk, E., Bruce, J., Chevreux, G., Joliot, V., Negroni, E., Moulin, M., Trollet, C., & Ait-Si-Ali, S. (2026). EMILIN1 emerges as a TGFβ/SETDB1-regulated secreted biomarker in Duchenne muscular dystrophy. Cell death & disease, Epub. https://doi.org/10.1038/s41419-026-08825-8