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. Chatzifrangkeskou, M., Le Dour, C., & Muchir, A. (2023). Modulation of cytoskeleton in cardiomyopathy caused by mutations in LMNA gene. American journal of physiology. Cell physiology, 324(6). https://doi.org/10.1152/ajpcell.00471.2022

  2. Cho, N. S., Sanvito, F., Thakuria, S., Wang, C., Hagiwara, A., Nagaraj, R., Oshima, S., Lopez Kolkovsky, A. L., Lu, J., Raymond, C., Liau, L. M., Everson, R. G., Patel, K. S., Kim, W., Yang, I., Bergsneider, M., Nghiemphu, P. L., Lai, A., Nathanson, D. A., … Ellingson, B. M. (2023). Multi-nuclear sodium, diffusion, and perfusion MRI in human gliomas. Journal of Neuro-Oncology, 163(2). https://doi.org/10.1007/s11060-023-04363-x

  3. Hildebrandt, R. P., Moss, K. R., Janusz-Kaminska, A., Knudson, L. A., Denes, L. T., Saxena, T., Boggupalli, D. P., Li, Z., Lin, K., Bassell, G. J., & Wang, E. T. (2023). Muscleblind-like proteins use modular domains to localize RNAs by riding kinesins and docking to membranes. Nature communications, 14(1). https://doi.org/10.1038/s41467-023-38923-6

  4. Silva-Cayetano, A., Fra-Bido, S., Robert, P. A., Innocentin, S., Burton, A. R., Watson, E. M., Lee, J. L., Webb, L. M. C., Foster, W. S., McKenzie, R. C. J., Bignon, A., Vanderleyden, I., Alterauge, D., Lemos, J. P., Carr, E. J., Hill, D. L., Cinti, I., Balabanian, K., Baumjohann, D., … Linterman, M. A. (2023). Spatial dysregulation of T follicular helper cells impairs vaccine responses in aging. Nature Immunology, 24(7), 1124. https://doi.org/10.1038/s41590-023-01519-9

  5. Khamaysa, M., Lefort, M., Pélégrini-Issac, M., Lackmy-Vallée, A., Preuilh, A., Devos, D., Rolland, A. S., Desnuelle, C., Chupin, M., Marchand-Pauvert, V., Querin, G., & Pradat, P. F. (2023). Comparison of spinal magnetic resonance imaging and classical clinical factors in predicting motor capacity in amyotrophic lateral sclerosis. Journal of neurology, 270(8), 3885-3895. https://doi.org/10.1007/s00415-023-11727-w

  6. Kiryluk, K., Sanchez-Rodriguez, E., Zhou, X. J., Zanoni, F., Liu, L., Mladkova, N., Khan, A., Marasa, M., Zhang, J. Y., Balderes, O., Sanna-Cherchi, S., Bomback, A. S., Canetta, P. A., Appel, G. B., Radhakrishnan, J., Trimarchi, H., Sprangers, B., Cattran, D. C., Reich, H., … Gharavi, A. G. (2023). Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy. Nature genetics, 55(7), 1091-1105. https://doi.org/10.1038/s41588-023-01422-x

  7. Tedesco, B., Vendredy, L., Adriaenssens, E., Cozzi, M., Asselbergh, B., Crippa, V., Cristofani, R., Rusmini, P., Ferrari, V., Casarotto, E., Chierichetti, M., Mina, F., Pramaggiore, P., Galbiati, M., Piccolella, M., Baets, J., Baeke, F., De Rycke, R., Mouly, V., … Poletti, A. (2023). HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies. Autophagy, 19(8), 2217-2239. https://doi.org/10.1080/15548627.2023.2179780

  8. Okubo, M., Brull, A., Beuvin, M., Mougenot, N., Paradis, V., Bonne, G., & Bertrand, A. (2023). O03 : In vivo gene therapy for striated muscle laminopathy. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.018

  9. Roos, A., van der Ven, P., Alrohaif, H., Kolbel, H., Heil, L., Della Marina, A., Weis, J., Topf, A., Vorgerd, M., Schara-Schmidt, U., Gangfuss, A., Evangelista, T., Hentschel, A., Grüneboom, A., Fuerst, D., Kuechler, A., Tzschach, A., Depienne, C., & Lochmuller, H. (2023). O09 : Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.258

  10. Wilson, I., Reyngoudt, H., Araujo, E., Baudin, P., Marty, B., Bolano-Diaz, C., Diaz-Manera, J., Rufibach, L., Hilsden, H., Querin, G., Pegoraro, E., Mendell, J., Stojkovic, T., Straub, V., Blamire, A., & Carlier, P. (2023). P125 Quantitative MRI in upper limb muscles of patients with dysferlinopathy: 6-months and 12-months longitudinal data from the natural history Jain COS 2 project. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.060

  11. Muntoni, F., Seferian, A., Straub, V., Guglieri, M., Servais, L., Wilk-Durakiewicz, E., Ni, X., Gao, P., Hu, M., Iff, J., Hill, L., Sehinovych, I., Orogun, L., & Mercuri, E. (2023). Poster 147 : Six-year long-term safety and efficacy of Golodirsen in patients with DMD vs mutation-matched external controls. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.082

  12. Mercuri, E., Seferian, A., Deconinck, N., Orogun, L., Ni, X., Zhang, W., Drummond, K., Sehinovych, I., & Muntoni, F. (2023). Poster 24 : Safety and tolerability of Eteplirsen in patients 6–48 Months old with DMD amenable to exon 51 skipping: an open-label extension study. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.151

  13. Merlet, A., Lacene, E., Nelson, I., Brochier, G., Labasse, C., Chanut, A., Madelaine, A., Beuvin, M., Bonne, G., Féasson, L., Minot, M., Noury, J., Fradin, M., Fernandez-Eulate, G., Behin, A., Stojkovic, T., Hentschel, A., Marcorelles, P., Roos, A., & Evangelista, T. (2023). Poster 338 : Clinical, morphological, and proteomic features of patients suspected of X-linked myopathy with excessive autophagy (XMEA). Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.136

  14. Querin, G., Birnbaum, S., Marty, B., Reyngoudt, H., Hogrel, J., & Pradat, P. (2023). Poster 438 : Multimodal evaluation of the effect of salbutamol on walking capacity in ambulatory individuals with ALS: insights from the phase 2 WALKALS study. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.476

  15. Mercuri, E., Desguerre, I., Gangfuss, A., Servais, L., Nascimento, A., Zhang, B., Murphy, A., Reid, C., Wandel, C., Singh, T., Guridi, M., & Muntoni, F. (2023). Poster 46 : ENVOL, a Phase 2, open-label trial evaluating the safety and expression of delandistrogene moxeparvovec in Duchenne muscular dystrophy: study design. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.027

  16. Gapinske, M., Winter, J., Swami, D., Gapinske, L., Woods, W. S., Shirguppe, S., Miskalis, A., Busza, A., Joulani, D., Kao, C. J., Kostan, K., Bigot, A., Bashir, R., & Perez-Pinera, P. (2023). Targeting Duchenne muscular dystrophy by skipping DMD exon 45 with base editors. Molecular therapy. Nucleic acids, 33, 572. https://doi.org/10.1016/j.omtn.2023.07.029

  17. Park, J., & Bird, J. E. (2023). The actin cytoskeleton in hair bundle development and hearing loss. Hearing research, 436. https://doi.org/10.1016/j.heares.2023.108817

  18. James, M., Moore, U., Fernandez Eulate, G., Mayhew, A., & Straub, V. (2023). Missense variant in TARDBP results in a novel distal myopathy. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/S0960-8966(23)00728-9

  19. Diaz, C., Wilson, I., Borland, H., Araujo, E., Manera, J., & Straub, V. (2023). Poster 124 : A series of dysferlinopathy patients showing fluctuations in muscle fat fraction and contractile cross-sectional area values (cCSA) over a 3-year follow-up period. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.059

  20. Iff, J., Tuttle, E., Liu, Y., Wei, F., Done, N., Servais, L., Seferian, A., Straub, V., Guglieri, M., Mercuri, E., Muntoni, F., & Sekou, G. (2023). Poster 149 : Delayed pulmonary progression in Golodirsen-treated patients with Duchenne muscular dystrophy vs mutation-matched external controls. Neuromuscular disorders : NMD, 33(S1). https://doi.org/10.1016/j.nmd.2023.07.084