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. Theuriet, J., Marte, S., Isapof, A., de Becdelievre, A., Konyukh, M., Laureano-Figueroa, S. M., Latour, P., Quadrio, I., Maisonobe, T., Antonellis, A., & Stojkovic, T. (2024). A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family. Journal of the peripheral nervous system : JPNS. https://doi.org/10.1111/jns.12635

  2. Vassilopoulos, S., & Montagnac, G. (2024). Clathrin assemblies at a glance. Journal of cell science, 137(8). https://doi.org/10.1242/jcs.261674

  3. Ghosh, S., Arshi, M. U., Ghosh, S., Jash, M., Sen, S., Mamchaoui, K., Bhattacharyya, S., Rana, N. K., & Ghosh, S. (2024). Discovery of Quinazoline and Quinoline-Based Small Molecules as Utrophin Upregulators via AhR Antagonism for the Treatment of Duchenne Muscular Dystrophy. Journal of Medicinal Chemistry. https://doi.org/10.1021/acs.jmedchem.4c00398

  4. Schirinzi, E., Bochicchio, M. A., Lochmuller, H., Vissing, J., Evangelista, T., Plançon, J. P., Fanucci, L., Marini, M., Tonacci, A., Mancuso, M., Segovia-Kueny, S., Toscano, A., Angelini, C., Schoser, B., Sacconi, S., & Siciliano, G. (2024). E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29-30 October 2021. Journal of Neuromuscular Diseases, Epub. https://doi.org/10.3233/JND-230091

  5. Viora-Dupont, E., Robert, F., Chassagne, A., Pélissier, A., Staraci, S., Sanlaville, D., Edery, P., Lesca, G., Putoux, A., Pons, L., Cadenes, A., Baurand, A., Sawka, C., Bertolone, G., Spetchian, M., Yousfi, M., Salvi, D., Gautier, E., Vitobello, A., … Faivre, L. (2024). Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study). European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-024-01616-9

  6. Meyer, C., Romero, N. B., Evangelista, T., Cadot, B., Laporte, J., Jeannin-Girardon, A., Collet, P., Ayadi, A., Chennen, K., & Poch, O. (2024). IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa. Journal of Neuromuscular Diseases, Epub. https://doi.org/10.3233/JND-230085

  7. Kittaka, M., Mizuno, N., Morino, H., Yoshimoto, T., Zhu, T., Liu, S., Wang, Z., Mayahara, K., Iio, K., Kondo, K., Kondo, T., Hayashi, T., Coghlan, S., Teno, Y., Doan, A. A. P., Levitan, M., Choi, R. B., Matsuda, S., Ouhara, K., … Ueki, Y. (2024). Loss-of-function OGFRL1 variants identified in autosomal recessive cherubism families. JBMR plus, 8(6), ziae050. https://doi.org/10.1093/jbmrpl/ziae050

  8. Mancuso, M., Papadopoulou, M. T., Ng, Y. S., Ardissone, A., Bellusci, M., Bertini, E., Di Vito, L., Evangelista, T., Fons, C., Hikmat, O., Horvath, R., Klopstock, T., Kornblum, C., Lamperti, C., Licchetta, L., Molnar, M. J., Varhaug, K. N., O'Callaghan, M., Pressler, R. M., … Rahman, S. (2024). Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group. European journal of neurology, Epub, e16275. https://doi.org/10.1111/ene.16275

  9. Granados, A., Zamperoni, M., Rapone, R., Moulin, M., Boyarchuk, E., Bouyioukos, C., Del Maestro, L., Joliot, V., Negroni, E., Mohamed, M., Piquet, S., Bigot, A., Le Grand, F., Albini, S., & Ait-Si-Ali, S. (2024). SETDB1 modulates the TGFβ response in Duchenne muscular dystrophy myotubes. Science advances, 10(18). https://doi.org/10.1126/sciadv.adj8042

  10. Gerhalter, T., Schilling, F., Zeitouni, N., Linz, P., Baudin, P. Y., Kannenkeril, D., Kopp, C., Dahlmann, A., Schmieder, R., Uder, M., Nagel, A. M., & Gast, L. V. (2024). Sodium quantification in skeletal muscle: comparison between Cartesian gradient-echo and radial ultra-short echo time 23Na MRI techniques. European radiology experimental, 8(1). https://doi.org/10.1186/s41747-024-00461-1

  11. Dowling, P., Trollet, C., Muraine, L., Negroni, E., Swandulla, D., & Ohlendieck, K. (2024). The potential of proteomics for in-depth bioanalytical investigations of satellite cell function in applied myology. Expert review of proteomics, Epub. https://doi.org/10.1080/14789450.2024.2356578

  12. Moreno, N., Sabater-Arcis, M., Sevilla, T., Alonso, M. P., Ohana, J., Bargiela, A., & Artero, R. (2024). Therapeutic potential of oleic acid supplementation in myotonic dystrophy muscle cell models. Biological research, 57(1). https://doi.org/10.1186/s40659-024-00496-z

  13. Morel, C., Lemerle, E., Tsai, F. C., Obadia, T., Srivastava, N., Marechal, M., Salles, A., Albert, M., Stefani, C., Benito, Y., Vandenesch, F., Lamaze, C., Vassilopoulos, S., Piel, M., Bassereau, P., Gonzalez-Rodriguez, D., Leduc, C., & Lemichez, E. (2024). Caveolin-1 protects endothelial cells from extensive expansion of transcellular tunnel by stiffening the plasma membrane. eLife, 12. https://doi.org/10.7554/eLife.92078

  14. Handal, T., Juster, S., Abu Diab, M., Yanovsky-Dagan, S., Zahdeh, F., Aviel, U., Sarel-Gallily, R., Michael, S., Bnaya, E., Sebban, S., Buganim, Y., Drier, Y., Mouly, V., Kubicek, S., van den Broek, W. J. A. A., Wansink, D. G., Epsztejn-Litman, S., & Eiges, R. (2024). Differentiation shifts from a reversible to an irreversible heterochromatin state at the DM1 locus. Nature communications, 15(1), 3270. https://doi.org/10.1038/s41467-024-47217-4

  15. Reyngoudt, H., Baudin, P. Y., de Caldas de Almeida Araújo, E., Bachasson, D., Boisserie, J. M., Mariampillai, K., Annoussamy, M., Allenbach, Y., Hogrel, J. Y., Carlier, P. G., Marty, B., & Benveniste, O. (2024). Effect of sirolimus on muscle in inclusion body myositis observed with magnetic resonance imaging and spectroscopy. Journal of cachexia, sarcopenia and muscle, Epub. https://doi.org/10.1002/jcsm.13451

  16. Massiré, T., Chiara, N., Amélie, V., Christel, G., Marius, H., Lucile, S., Maxime, G., Anne, F., Mégane, L., Zoheir, G., Bruno, C., Eriky, C., Benjamin, M., Nathalie, M., Julien, M., Laure, S., Jeremy, S., Lofti, S., Ariane, J., … Sestina, F. (2024). GDF5 as a rejuvenating treatment for age-related neuromuscular failure. Brain : a journal of neurology, Epub. https://doi.org/10.1093/brain/awae107

  17. Clayton, J. S., Vo, C., Crane, J., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Ravenscroft, G., Laing, N. G., & Taylor, R. L. (2024). Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene. Stem cell research, 77(Epub), 103411. https://doi.org/10.1016/j.scr.2024.103411

  18. Clayton, J. S., Vo, C., Crane, J., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Ravenscroft, G., Laing, N. G., & Taylor, R. L. (2024). Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene. Stem cell research, 77(Epub), 103410. https://doi.org/10.1016/j.scr.2024.103410

  19. Mauhin, W., Dzangué-Tchoupou, G., Amelin, D., Corneau, A., Lamari, F., Allenbach, Y., Dussol, B., Leguy-Seguin, V., D'Halluin, P., Matignon, M., Maillot, F., Ly, K. H., Besson, G., Willems, M., Labombarda, F., Masseau, A., Lavigne, C., Lacombe, D., Maillard, H., … Benveniste, O. (2024). Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease. Journal of inherited metabolic disease, Epub. https://doi.org/10.1002/jimd.12727

  20. Tard, C., Bouhour, F., Michaud, M., Beltran, S., Fournier, M., Demurger, F., Lagrange, E., Nollet, S., Sacconi, S., Noury, J. B., Magot, A., Cintas, P., Renard, D., Deibener-Kaminsky, J., Lefeuvre, C., Davion, J. B., Salort-Campana, E., Arrassi, A., Taouagh, N., … Laforet, P. (2024). Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study. European journal of neurology, Epub, e16292. https://doi.org/10.1111/ene.16292