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. Foley, A. R., Bolduc, V., Guirguis, F., Donkervoort, S., Hu, Y., Orbach, R., McCarty, R. M., Sarathy, A., Norato, G., Cummings, B. B., Lek, M., Sarkozy, A., Butterfield, R. J., Kirschner, J., Nascimento, A., Benito, D. N., Quijano Roy, S., Stojkovic, T., Merlini, L., … Bonnemann, C. G. (2024). The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences. https://doi.org/10.1101/2024.03.29.24304673

  2. Pennuto, M., Pradat, P. F., Soraru, G., & Greensmith, L. (2024). 271st ENMC international workshop: Towards a unifying effort to fight Kennedy’s disease. 20-22 October 2023, Hoofddorp, Netherlands. Neuromuscular disorders : NMD, 38. https://doi.org/10.1016/j.nmd.2024.03.003

  3. Lilleker, J. B., Naddaf, E., Saris, C. G. J., Schmidt, J., de Visser, M., & Weihl, C. C. (2024). 272nd ENMC international workshop: 10 Years of progress – revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16-18 June 2023, Hoofddorp, The Netherlands. Neuromuscular disorders : NMD, 37. https://doi.org/10.1016/j.nmd.2024.03.001

  4. Carlton, A. J., Jeng, J. Y., Grandi, F. C., De Faveri, F., Amariutei, A. E., De Tomasi, L., O'Connor, A., Johnson, S. L., Furness, D. N., Brown, S. D. M., Ceriani, F., Bowl, M. R., Mustapha, M., & Marcotti, W. (2024). BAI1 localizes AMPA receptors at the cochlear afferent post-synaptic density and is essential for hearing. Cell reports, 43(4). https://doi.org/10.1016/j.celrep.2024.114025

  5. Hassani, M., Moutachi, D., Lemaitre, M., Boulinguiez, A., Furling, D., Agbulut, O., & Ferry, A. (2024). Beneficial effects of resistance training on both mild and severe mouse dystrophic muscle function as a preclinical option for Duchenne muscular dystrophy. PLoS ONE, 19(3), e0295700. https://doi.org/10.1371/journal.pone.0295700

  6. Galli, F., Bragg, L., Rossi, M., Proietti, D., Perani, L., Bagicaluppi, M., Tonlorenzi, R., Sibanda, T., Caffarini, M., Talapatra, A., Santoleri, S., Meregalli, M., Bano-Otalora, B., Bigot, A., Bozzoni, I., Bonini, C., Mouly, V., Torrente, Y., & Cossu, G. (2024). Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy. EMBO Molecular Medicine. https://doi.org/10.1038/s44321-024-00031-3

  7. Veltrop, R. J. A., Kukk, M. M., Topouzidou, K., Didden, L., Muchir, A., van Steenbeek, F. G., Schurgers, L. J., & Harakalova, M. (2024). From gene to mechanics: a comprehensive insight into the mechanobiology of LMNA mutations in cardiomyopathy. Cell communication and signaling : CCS, 22(1). https://doi.org/10.1186/s12964-024-01546-5

  8. Romero, N. B., Urtizberea, J. A., & Quijano Roy, S. (2024). Obituary. Neuromuscular disorders : NMD, 38. https://doi.org/10.1016/j.nmd.2024.03.008

  9. Mercuri, E., Vilchez, J. J., Boespflug-Tanguy, O., Zaidman, C. M., Mah, J. K., Goemans, N., Muller-Felber, W., Niks, E. H., Schara-Schmidt, U., Bertini, E., Comi, G. P., Mathews, K. D., Servais, L., Vandenborne, K., Johannsen, J., Messina, S., Spinty, S., McAdam, L., Selby, K., … McDonald, C. M. (2024). Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. The Lancet. Neurology, 23(4), 393. https://doi.org/10.1016/S1474-4422(24)00036-X

  10. De Spiegeleer, A., Descamps, A., Wynendaele, E., Naumovski, P., Crombez, L., Planas, M., Feliu, L., Knappe, D., Mouly, V., Bigot, A., Bielza, R., Hoffmann, R., Van Den Noortgate, N., Elewaut, D., & De Spiegeleer, B. (2024). Streptococcal quorum sensing peptide CSP-7 contributes to muscle inflammation and wasting. Biochimica et biophysica acta. Molecular basis of disease, 1870(4). https://doi.org/10.1016/j.bbadis.2024.167094

  11. Onnée, M., Benezit, A., Bastu, S., Nadaj-Pakleza, A., Lannes, B., Ader, F., Theze, C., Cintas, P., Cances, C., Carlier, R. Y., Metay, C., Cossee, M., & Malfatti, E. (2024). The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability. Biomedicines, 12(2). https://doi.org/10.3390/biomedicines12020322

  12. Woodcock, I. R., Tachas, G., Desem, N., Houweling, P. J., Kean, M., Emmanuel, J., Kennedy, R., Carroll, K., de Valle, K., Adams, J., Lamande, S. R., Coles, C., Tiong, C., Burton, M., Villano, D., Button, P., Hogrel, J. Y., Catling-Seyffer, S., Ryan, M. M., … Yiu, E. M. (2024). A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice. PLoS ONE, 19(1), e0294847. https://doi.org/10.1371/journal.pone.0294847

  13. Milev, E., Selby, V., Wolfe, A., Rohwer, A., Tillmann, R., Ramsey, D., Iodice, M., Hogrel, J. Y., Baranello, G., Scoto, M., & Muntoni, F. (2024). Assessment of the upper limb function, strength, and mobility in treatment-naive children with spinal muscular atrophy Types 2 and 3. Muscle & Nerve, Epub. https://doi.org/10.1002/mus.28041

  14. Yin, A., Fu, W., Elengickal, A., Kim, J., Liu, Y., Bigot, A., Mamchaoui, K., Call, J. A., & Yin, H. (2024). Chronic hypoxia impairs skeletal muscle repair via HIF-2α stabilization. Journal of cachexia, sarcopenia and muscle, Epub. https://doi.org/10.1002/jcsm.13436

  15. Bin Haidar, H., Almeida, J. R., Williams, J., Guo, B., Bigot, A., Senthilkumaran, S., Vaiyapuri, S., & Patel, K. (2024). Differential effects of the venoms of Russell’s viper and Indian cobra on human myoblasts. Scientific Reports, 14(1). https://doi.org/10.1038/s41598-024-53366-9

  16. Topf, A., Cox, D., Zaharieva, I. T., Di Leo, V., Sarparanta, J., Jonson, P. H., Sealy, I. M., Smolnikov, A., White, R. J., Vihola, A., Savarese, M., Merteroglu, M., Wali, N., Laricchia, K. M., Venturini, C., Vroling, B., Stenton, S. L., Cummings, B. B., Harris, E., … Straub, V. (2024). Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics, 56(3). https://doi.org/10.1038/s41588-023-01651-0

  17. Atalaia, A., Wandrei, D., Lalout, N., Thompson, R., Tassoni, A., 't Hoen, P. A. C., Athanasiou, D., Baker, S. A., Sakellariou, P., Paliouras, G., D'Angelo, C., Horvath, R., Mancuso, M., van der Beek, N., Kornblum, C., Kirschner, J., Pareyson, D., Bassez, G., Blacas, L., … Evangelista, T. (2024). EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders. Orphanet journal of rare diseases, 19(1), 66. https://doi.org/10.1186/s13023-024-03059-3

  18. Smeets, H., Verbrugge, B., Bulbena, X., Hristova, L., Vogt, J., & van Beckhoven, I. (2024). European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain. Neuromuscular disorders : NMD, 36. https://doi.org/10.1016/j.nmd.2024.01.001

  19. Dowling, P., Trollet, C., Negroni, E., Swandulla, D., & Ohlendieck, K. (2024). How Can Proteomics Help to Elucidate the Pathophysiological Crosstalk in Muscular Dystrophy and Associated Multi-System Dysfunction? Proteomes, 12(1), 4. https://doi.org/10.3390/proteomes12010004

  20. Ferrand, M. C., Giordano, G., Mougenot, N., Laporte, P. L., Vignier, N., Leclerc, A., Algalarrondo, V., Extramiana, F., Charpentier, F., & Neyroud, N. (2024). Intracardiac electrophysiology to characterize susceptibility to ventricular arrhythmias in murine models. Frontiers in physiology, 15. https://doi.org/10.3389/fphys.2024.1326663