Dernières publications

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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