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. Retailleau, E., Lefeuvre, C., De Antonio, M., Bouhour, F., Tard, C., Salort-Campana, E., Lagrange, E., Behin, A., Sole, G., Noury, J. B., Sacconi, S., Magot, A., Pakleza, A. N., Orlikowski, D., Beltran, S., Spinazzi, M., Cintas, P., Fournier, M., Bouibede, F., … Laforet, P. (2024). Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry. European journal of neurology, Epub, e16428. https://doi.org/10.1111/ene.16428

  2. Zufiría, M., Pikatza-Menoio, O., Garciandia-Arcelus, M., Bengoetxea, X., Jimenez, A., Elicegui, A., Levchuk, M., Arnold-García, O., Ondaro, J., Iruzubieta, P., Rodríguez-Gómez, L., Fernández-Pelayo, U., Muñoz-Oreja, M., Aiastui, A., Garcia-Verdugo, J. M., Herranz-Pérez, V., Zulaica, M., Poza, J. J., Ruiz-Onandi, R., … Alonso-Martin, S. (2024). Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis. Acta neuropathologica, 148(1), 43. https://doi.org/10.1007/s00401-024-02794-y

  3. Wolf, D., Lilleker, J., Bassez, G., Diaz-Manera, J., Kools, J., Pane, M., Roxburgh, R., Schoser, B., Turner, C., Mix, C., Ray, S., Han, B., Farwell, W., & Sansone, V. (2024). Poster 221 : Initial data from the achieve trial of DYNE-101 in adults with myotonic dystrophy type 1 (DM1). Neuromuscular disorders : NMD, 43(S1). https://doi.org/10.1016/j.nmd.2024.07.072

  4. Theuriet, J., Villar-Quiles, R., Stojkovic, T., & Eymard, B. (2024). Poster 234 : Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis. Neuromuscular disorders : NMD, 43(S1). https://doi.org/10.1016/j.nmd.2024.07.626

  5. Rodríguez Cruz, P., Diagne, R., Henning, F., Naidu, K., Heckmann, J. M., Floudiotis, N., Malfatti, E., Beltran, S., Leturcq, F., Urtizberea, J. A., Tellez, M., Elsheikh, B., Beltran, S., Diop, A., Ndiaye, M., Hodes, R., Voermans, N., Van der Vliet, P., van der Maarel, S., & Lemmers, R. (2024). Poster 261 : Insights into facioscapulohumeral dystrophy in African individuals: clinical and molecular findings from a collaborative study. Neuromuscular disorders : NMD, 43(S1). https://doi.org/10.1016/j.nmd.2024.07.478

  6. Rodríguez Cruz, P., Alitsiou, A., Diagne, R., Lia-Baldini, A., Ghorab, K., Diop, A. G., Ndiaye, M., Beltran, S., & Lao, O. (2024). Poster 262 : A global analysis of the CMT1A locus: implications for the origin and susceptibility to Charcot-Marie-Tooth disease type 1A across populations. Neuromuscular disorders : NMD, 43(S1). https://doi.org/10.1016/j.nmd.2024.07.279

  7. Landfeldt, E., Alemán, A., Abner, S., Zhang, R., Werner, C., Tomazos, I., Lochmuller, H., Quinlivan, R. M., & Wahbi, K. (2024). Predictors of cardiac disease in duchenne muscular dystrophy: a systematic review and evidence grading. Orphanet journal of rare diseases, 19(1), 359. https://doi.org/10.1186/s13023-024-03372-x

  8. Cupelli, M., Ginjupalli, V. K. M., Reisqs, J. B., Sleiman, Y., El-Sherif, N., Gourdon, G., Puymirat, J., Chahine, M., & Boutjdir, M. (2024). Calcium handling abnormalities increase arrhythmia susceptibility in DMSXL myotonic dystrophy type 1 mice. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 180. https://doi.org/10.1016/j.biopha.2024.117562

  9. Stenzel, W., Mammen, A. L., Gallay, L., Holzer, M. T., Kleefeld, F., Benveniste, O., & Allenbach, Y. (2024). Clinico-Sero-morphological classification of the Antisynthetase syndrome. Neuromuscular disorders : NMD, 45(Epub), 104453. https://doi.org/10.1016/j.nmd.2024.104453

  10. Reales, G., Amos, C. I., Benveniste, O., Chinoy, H., De Bleecker, J., de Paepe, B., Doria, A., Gregersen, P. K., Lamb, J. A., Limaye, V., Lundberg, I. E., Machado, P. M., Maurer, B., Miller, F. W., Molberg Ø, Pachman, L. M., Padyukov, L., Radstake, T. R., Reed, A. M., … Wallace, C. (2024). Discovery of new myositis genetic associations through leveraging other immune-mediated diseases. HGG advances, 5(4). https://doi.org/10.1016/j.xhgg.2024.100336

  11. Laforet, P., Montagu, G., Boyer, F., Gargiulo, M., Pouplin, S., Barrière, A., Berling, E., Bonnyaud, C., Cintas, P., Hogrel, J. Y., Le Goff, L., Marchadier, B., Sekou, G. N., Orlikowski, D., Prigent, H., Ropars, J., Salort-Campana, E., Stojkovic, T., & Attarian, S. (2024). Poster 152 : Perceived effects of treatments by SMA adult patients: a French qualitative study. Neuromuscular disorders : NMD, 43(S1). https://doi.org/10.1016/j.nmd.2024.07.596

  12. Crawford, T., Servais, L., Krueger, J., Kolbel, H., Gomez Garcia, M., Cances, C., Kuntz, N., Finkel, R., Yao, B., Zhao, G., Marantz, J., Darras, B., & Mercuri, E. (2024). Poster 170 : Apitegromab in spinal muscular atrophy: baseline characteristics of participants enrolled in the phase 3 SAPPHIRE study. Neuromuscular disorders : NMD, 43(S1). https://doi.org/10.1016/j.nmd.2024.07.614

  13. Laforet, P., Montagu, G., Boyer, F., Gargiulo, M., Pouplin, S., Barrière, A., Berling, E., Bonnyaud, C., Cintas, P., Hogrel, J. Y., Le Goff, L., Marchadier, B., Sekou, G. N., Orlikowski, D., Prigent, H., Ropars, J., Salort-Campana, E., Stojkovic, T., & Attarian, S. (2024). Poster 187 : French HCPs approach to evaluating SMA adult patients with severe disabilities: a qualitative study. Neuromuscular disorders : NMD, 43(S1). https://doi.org/10.1016/j.nmd.2024.07.447

  14. El Kaim, A., Fer, F., & Hogrel, J. (2024). Poster 214 : The 10-meter model: predicting the 6-minute walk test in Pompe disease. Neuromuscular disorders : NMD, 43(S1). https://doi.org/10.1016/j.nmd.2024.07.065

  15. McDonald, S., Allamand, V., Alvarez, R., Dziewczapolski, G., Boddy, H., Deconinck, N., Ferre, X., McAlister, B., Méjat, A., Sarkozy, A., Copier, J., & Straub, V. (2024). Poster 25 : Data trends and highlights from The Global Registry for COL6-related dystrophies. Neuromuscular disorders : NMD, 43(S1). https://doi.org/10.1016/j.nmd.2024.07.232

  16. Gerhalter, T., Schunk, V., Baudin, P., Rauh, S., Tkotz, K., Zaiss, M., Roemer, F., Doerfler, A., Uder, M., Gazzerro, E., & Nagel, A. (2024). Poster 350 : Multi-parametric MRI of lower leg muscle in patients with Becker muscular dystrophy. Neuromuscular disorders : NMD, 43(S1). https://doi.org/10.1016/j.nmd.2024.07.690

  17. Bassez, G., Kachal, A., Gyenge, M., Hamroun, D., & French Myotonic Dystrophy Study Group (2024). Poster 457 : Mortality rate and predictors of death in the DM1 population, a registry-based study. Neuromuscular disorders : NMD, 43(S1). https://doi.org/10.1016/j.nmd.2024.07.541

  18. Bassez, G., Gyenge, M., Hamroun, D., Kachal, A., Evangelista, T., Rodrigue, X., Nury, M., Lochmuller, H., & Gagnon, C. (2024). Poster 458 : The iDM-Scope Registry: an innovative France-Canada framework to advance myotonic dystrophy translational research. Neuromuscular disorders : NMD, 43(S1). https://doi.org/10.1016/j.nmd.2024.07.542

  19. Diaz, C. B., Wilson, I., Hilsden, H., James, M., Araujo, E., Reyngoudt, H., Blamire, A., Jain COS Consortium, Carlier, P., Straub, V., & Diaz Manera, J. (2024). Poster 655 : Predictive modelling of dysferlinopathy progression: a longitudinal fat fraction analysis. Neuromuscular disorders : NMD, 43(S1). https://doi.org/10.1016/j.nmd.2024.07.190

  20. Fromes, Y., Olivier, S., Zanfongnon, R., Thevenot, E., Stojkovic, T., Marty, B., & Reyngoudt, H. (2024). Poster 87 : MRI characterization of the cardiac involvement in LGMD2i/R9. Neuromuscular disorders : NMD, 43(S1). https://doi.org/10.1016/j.nmd.2024.07.270