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. Bortolani, S., Torchia, E., Vicino, A., Cheli, M., Rabuffetti, M., Marzegan, A., Monforte, M., Ricci, E., Hogrel, J., Sacconi, S., Maggi, L., & Tasca, G. (2023). Poster 161 : Natural history of distal and myofibrillar myopathies assessed by clinical and technological outcome measures (Dista-Myo): baseline results. Brain, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.293

  2. Benarroch, L., Nelson, I., Stojkovic, T., Oumoussa, B. M., Madry, H., Boelle, P., Labreche, K., Tomé, S., Trollet, C., & Bonne, G. (2023). Poster 166 : Deciphering the genetic cause of oculopharyngodistal myopathy in a French cohort using Cas9-targeted long-read sequencing. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.298

  3. Finkel, R., Farrar, M., Servais, L., Vlodavets, D., Zanoteli, E., Al-Muhaizea, M., Prufer, A., Nelson, L., Fischer, C., Gerber, M., Gorni, K., Kletzl, H., Palfreeman, L., Gaki, E., Fontoura, P., Bertini, E., & RAINBOWFISH Study Grp (2023). Poster 212 : RAINBOWFISH: Primary efficacy and safety data in risdiplam-treated infants with presymptomatic spinal muscular atrophy (SMA). Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.094

  4. Duong, T., Darras, B., Morrow, J., Muntoni, F., Servais, L., Rabbia, M., Gerber, M., Kletzl, H., Gaki, E., Fletcher, S., Scalco, R., Wagner, K., & Mercuri, E. (2023). Poster 227 MANATEE: GYM329 (RO7204239) in combination with Risdiplam treatment in patients with spinal muscular atrophy (SMA). Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.109

  5. Hilsden, H., James, M., Dressman, H., Day, J., Mendell, J., Torron, R., Harms, M., Pestronk, A., Vissing, J., Desai, U., Yoshimura, M., Shin, J., Mozaffar, T., Stojkovic, T., Pegoraro, E., Raivas, J., Olive, M., Paradas, C., Straub, V., & Mayhew, A. (2023). Poster 281 : Quality of life in adults with dysferlinopathy: international clinical outcome study of dysferlinopathy. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.191

  6. James, M., Moore, U., Fernandez Eulate, G., Mayhew, A., & Straub, V. (2023). Poster 305 : The first standards of care guidelines for a limb girdle muscular dystrophy. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.215

  7. Lauletta, A., de Le Hoye, L., Leonard-Louis, S., Garibaldi, M., Allenbach, Y., & Benveniste, O. (2023). Poster 336 : Refining the clinical and therapeutic spectrum of granulomatous myositis from a large cohort of patients. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.134

  8. Ferreira, W., Massaro, C., Masingue, M., de Lonlay, P., Laforet, P., Behin, A., Eymard, B., Choumert, A., Mafatti, E., Stojkovic, T., Allenbach, Y., Bassez, G., & Evangelista, T. (2023). Poster 351 : Rhabdomyolysis and muscle biopsy outcomes: a single center retrospective cohort. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.458

  9. Holland, A., Klein, A., Lonkar, P., Svenstrup, N., Garg, B., Foy, J., Furling, D., & Goyal, J. (2023). Poster 390 : PGN-EDODM1 nonclinical data demonstrate mechanistic and meaningful activity for potential treatment of myotonic dystrophy type 1 (DM1). Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.354

  10. Hogrel, J., Barrière, A., Bonnyaud, C., Boyer, F., Gargiulo, M., Li, D., Montagu, G., Berling, E., Cintas, P., Le Goff, L., Marchadier, B., Sekou, G., Orlikowksi, D., Pouplin, S., Prigent, H., Ropars, J., Salort-Campana, E., Stojkovic, T., Attarian, S., & Laforet, P. (2023). Poster 69 Scoping review on the assessment tools used on SMA adolescent and adult patients. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.271

  11. Hogrel, J., Berling, E., Prigent, H., Montagu, G., Barrier, C., Bonnyaud, C., Boyer, F., Cintas, P., Gargiulo, M., Le Goff, L., Marchadier, B., Sekou, G., Orlikowksi, D., Pouplin, S., Pruvot, A., Ropars, J., Salort-Campana, E., Stojkovic, T., Attarian, S., & Laforet, P. (2023). Poster 70 : What are the priorities of adolescents and adults with SMA and their health care practitioners toward evaluation? A French qualitative study. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.272

  12. Decostre, V., Chikhaoui, C., Vigouroux, C., Behin, A., Bassez, G., Ferreiro, A., Janmaat, S., Masingue, M., Stojkovic, T., Vatier, C., Quiles, R. V., Roy, S. Q., Wahbi, K., Eymard, B., Bonne, G., Yaou, R. B., & Hogrel, J. (2023). VPoster 429 : Impaired skeletal muscle strength in adult patients with laminopathies. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.370

  13. Carrington, G., Hau, A., Kosta, S., Dugdale, H. F., Muntoni, F., D'Amico, A., van den Bergh, P., Romero, N. B., Malfatti, E., Vilchez, J. J., Oldfors, A., Pajusalu, S., Õunap, K., Giralt-Pujol, M., Zanoteli, E., Campbell, K. S., Iwamoto, H., Peckham, M., & Ochala, J. (2023). Human skeletal myopathy myosin mutations disrupt myosin head sequestration. JCI insight, 8(21). https://doi.org/10.1172/jci.insight.172322

  14. Cocchiararo, I., Cattaneo, O., Rajendran, J., Chabry, F., Cornut, M., Soldati, H., Bigot, A., Mamchaoui, K., Gibertini, S., Bouche, A., Ham, D. J., Laumonier, T., Prola, A., & Castets, P. (2023). Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis. Human molecular genetics, 32(24), 3374-3389. https://doi.org/10.1093/hmg/ddad164

  15. Atalaia, A., Thompson, R., Matalonga, L., Hernandez-Ferrer, C., Corvo, A., Carmody, L., Zurek, B., Ben Yaou, R., Horvath, R., Graessner, H., Riess, O., Robinson, P., Lochmuller, H., Beltran, S., Bonne, G., & Treatabolome Project Group (2023). Poster 192 : The open-access treatabolome platform enhances the visibility of treatable and actionable genes in RD-connect’s GPAP and other clinical diagnosis support tools. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.301

  16. Baranello, G., Chiriboga, C., Servais, L., Darras, B., Day, J., Deconinck, N., Farrar, M., Finkel, R., Bertini, E., Kirschner, J., Rasson, M., Mazurkiewicz-Beldzinska, M., Vlodavets, D., Bader-Weder, S., Gorni, K., Jaber, B., Yeung, W. Y., Papp, G., Scalco, R., & Mercuri, E. (2023). Poster 230 : Safety update: Risdiplam clinical trial program for spinal muscular atrophy (SMA). Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.112

  17. Pass, C. G., Palzkill, V., Tan, J., Kim, K., Thome, T., Yang, Q., Fazzone, B., Robinson, S. T., O'Malley, K. A., Yue, F., Scali, S. T., Berceli, S. A., & Ryan, T. E. (2023). Single-Nuclei RNA-Sequencing of the Gastrocnemius Muscle in Peripheral Artery Disease. Circulation research, 133(10), 791-809. https://doi.org/10.1161/CIRCRESAHA.123.323161

  18. Araujo, E. C. A., De Lorenci, V. A., Peter p, & Ruiz ls (2024). A phenomenological wobbling model for isolated pulsars and the braking index. Monthly Notices of the Royal Astronomical Society, 527, 7956. https://doi.org/10.1093/mnras/stad3531

  19. Collectif (2024). Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Hybrid Posters. Nature, 32(S2), 1231. https://doi.org/10.1038/s41431-024-01734-4

  20. Kneppers, A., Ben Larbi, S., Theret, M., Saugues, A., Dabadie, C., Gsaier, L., Ferry, A., Rhein, P., Gondin, J., Sakamoto, K., & Mounier, R. (2023). AMPKα2 is a skeletal muscle stem cell intrinsic regulator of myonuclear accretion. iScience, 26(12). https://doi.org/10.1016/j.isci.2023.108343