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. Zampieri, S., Bersch, I., Smeriglio, P., Barbieri, E., Boncompagni, S., Maccarone, M. C., & Carraro, U. (2024). Program with last minute abstracts of the Padua Days on Muscle and Mobility Medicine, 27 February – 2 March, 2024 (2024Pdm3). European journal of translational myology, Epub. https://doi.org/10.4081/ejtm.2024.12346

  2. Mansour-Hendili, L., Gitiaux, C., Harion, M., Latouche, C., Heron, B., Stojkovic, T., Rama, M., Smol, T., Sophie Jourdain, A., Mention, K., Nadjar, Y., Schiff, M., Lemale, J., Ghoumid, J., Gottrand, F., Talbotec, C., Rotig, A., Funalot, B., & Desguerre, I. (2024). Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb. Frontiers in Genetics, 15, 1352006. https://doi.org/10.3389/fgene.2024.1352006

  3. Denoeud, C., Luo, G., Paquet, J., Boisselier, J., Wosinski, P., Moya, A., Diallo, A., Larochette, N., Marinesco, S., Meiller, A., Becquart, P., Moussi, H., Vilquin, J. T., Logeart-Avramoglou, D., Gand, A., Larreta-Garde, V., Pauthe, E., Potier, E., & Petite, H. (2023). Enzyme-controlled, nutritive hydrogel for mesenchymal stromal cell survival and paracrine functions. Communications biology, 6(1). https://doi.org/10.1038/s42003-023-05643-y

  4. Querin, G., & Colella, M. (2023). Gene therapy for primary myopathies: literature review and prospects. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 30(8). https://doi.org/10.1016/S0929-693X(23)00223-3

  5. Singanamalla, B., Kesavan, S., Aggarwal, D., Chatterjee, D., Urtizberea, J. A., & Suthar, R. (2023). Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1 -Related Congenital Centronuclear Myopathy. Journal of pediatric genetics, 12(4), 318. https://doi.org/10.1055/s-0041-1731683

  6. Salort-Campana, E., Sole, G., Magot, A., Tard, C., Noury, J. B., Behin, A., De La Cruz, E., Boyer, F., Lefeuvre, C., Masingue, M., Debergé, L., Finet, A., Brison, M., Spinazzi, M., Pégat, A., Sacconi, S., Malfatti, E., Choumert, A., Bellance, R., … Cintas, P. (2024). Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments. Orphanet journal of rare diseases, 19(1), 24. https://doi.org/10.1186/s13023-023-03008-6

  7. Vanden Brande, L., Bauche, S., Perez-Guardia, L., Sternberg, D., Seferian, A. M., Malfatti, E., Silva-Rojas, R., Labasse, C., Chevessier, F., Carlier, P., Eymard, B., Romero, N. B., Laporte, J., Servais, L., Gidaro, T., & Bohm, J. (2023). Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation. Neuropathology and applied neurobiology, Epub, e12952. https://doi.org/10.1111/nan.12952

  8. Noviello, C., Kobon, K., Randrianarison-Huetz, V., Maire, P., Pietri-Rouxel, F., Falcone, S., & Sotiropoulos, A. (2023). RhoA Is a Crucial Regulator of Myoblast Fusion. Cells, 12(23). https://doi.org/10.3390/cells12232673

  9. Currò, R., Dominik, N., Facchini, S., Vegezzi, E., Sullivan, R., Galassi Deforie, V., Fernandez-Eulate, G., Traschütz, A., Rossi, S., Garibaldi, M., Kwarciany, M., Taroni, F., Brusco, A., Good, J. M., Cavalcanti, F., Hammans, S., Ravenscroft, G., Roxburgh, R. H., Parolin Schnekenberg, R., … Cortese, A. (2024). Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain : a journal of neurology. https://doi.org/10.1093/brain/awad436

  10. Quartesan, I., Vegezzi, E., Currò, R., Heslegrave, A., Pisciotta, C., Iruzubieta, P., Salvalaggio, A., Fernandez-Eulate, G., Dominik, N., Rugginini, B., Manini, A., Abati, E., Facchini, S., Manso, K., Albajar, I., Laban, R., Rossor, A. M., Pichiecchio, A., Cosentino, G., … Cortese, A. (2023). Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum. Movement disorders : official journal of the Movement Disorder Society. https://doi.org/10.1002/mds.29680

  11. Benarroch, L., Bonne, G., Rivier, F., & Hamroun, D. (2024). The 2024 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscular disorders : NMD, 34, 126. https://doi.org/10.1016/j.nmd.2023.12.007

  12. Allamand, V., & Bonne, G. (2023). A new Filnemus research working group: GT-MEC. médecine/sciences (m/s), 39(HS1), 66. https://doi.org/10.1051/medsci/2023140

  13. Allamand, V. (2023). A tribute to Jeannette Erdmann. médecine/sciences (m/s), 39(HS1), 72. https://doi.org/10.1051/medsci/2023137

  14. Hooijmans, M. T., Schlaffke, L., Bolsterlee, B., Schlaeger, S., Marty, B., & Mazzoli, V. (2023). Compositional and Functional MRI of Skeletal Muscle: A Review. Journal of magnetic resonance imaging : JMRI, Epub. https://doi.org/10.1002/jmri.29091

  15. Benarroch, L. (2023). CRIPSR-Cas9: A therapeutic strategy for laminopathies? médecine/sciences (m/s), 39(HS1), 65. https://doi.org/10.1051/medsci/2023139

  16. Pietri-Rouxel, F., Falcone, S., & Traoré, M. (2023). GDF5: a therapeutic candidate for combating sarcopenia. médecine/sciences (m/s), 39(HS1), 47. https://doi.org/10.1051/medsci/2023143

  17. Urtizberea, J. A. (2023). Gene therapies in pediatrics. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 30. https://doi.org/10.1016/S0929-693X(23)00220-8

  18. Voermans, N. C., Ferreiro, A., Aartsema-Rus, A., & Jungbluth, H. (2023). Gene therapy for X-linked myotubular myopathy: the challenges. The Lancet. Neurology, 22(12). https://doi.org/10.1016/S1474-4422(23)00416-7

  19. Neininger-Castro, A. C., Hayes, J. B., Sanchez, Z. C., Taneja, N., Fenix, A. M., Moparthi, S., Vassilopoulos, S., & Burnette, D. T. (2023). Independent regulation of Z-lines and M-lines during sarcomere assembly in cardiac myocytes revealed by the automatic image analysis software sarcApp. eLife, 12. https://doi.org/10.7554/eLife.87065

  20. Schuermans, N., El Chehadeh, S., Hemelsoet, D., Gautheron, J., Vantyghem, M. C., Nouioua, S., Tazir, M., Vigouroux, C., Auclair, M., Bogaert, E., Dufour, S., Okawa, F., Hilbert, P., Van Doninck, N., Taquet, M. C., Rosseel, T., De Clercq, G., Debackere, E., Van Haverbeke, C., … Dermaut, B. (2023). Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling. Nature genetics, 55(11), 1929. https://doi.org/10.1038/s41588-023-01535-3