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. Tome, S. (2023). Nanopore and telomeres. médecine/sciences (m/s), 39(HS1), 64. https://doi.org/10.1051/medsci/2023141

  2. Cardoso, D., Barthelemy, I., Blot, S., & Muchir, A. (2023). Replenishing NAD+ content reduces aspects of striated muscle disease in a dog model of Duchenne muscular dystrophy. Skeletal Muscle, 13(1), 20. https://doi.org/10.1186/s13395-023-00328-w

  3. Giorgia, Q., Gomez Garcia de la Banda, M., & Smeriglio, P. (2023). Role of circulating biomarkers in spinal muscular atrophy: insights from a new treatment era. Frontiers in neurology, 14. https://doi.org/10.3389/fneur.2023.1226969

  4. Lemos, J. P., Tenório, L. P. G., Mouly, V., Butler-Browne, G., Mendes-da-Cruz, D. A., Savino, W., & Smeriglio, P. (2023). T cell biology in neuromuscular disorders: a focus on Duchenne Muscular Dystrophy and Amyotrophic Lateral Sclerosis. Frontiers in immunology, 14, 1202834. https://doi.org/10.3389/fimmu.2023.1202834

  5. Bitoun, M. (2023). The dynamin-2-gene related centronuclear myopathy. médecine/sciences (m/s), 39(HS1), 6. https://doi.org/10.1051/medsci/2023130

  6. Urtizberea, J. A., Severa, G., Ropars, J., & Malfatti, E. (2023). The Schwartz-Jampel syndrome. médecine/sciences (m/s), 39(HS1), 37. https://doi.org/10.1051/medsci/2023133

  7. Perrin, A., Metay, C., Savarese, M., Ben Yaou, R., Demidov, G., Nelson, I., Sole, G., Pereon, Y., Bertini, E. S., Fattori, F., D'Amico, A., Ricci, F., Ginsberg, M., Seferian, A., Boespflug-Tanguy, O., Servais, L., Chapon, F., Lagrange, E., Gaudon, K., … Cossee, M. (2023). Titin copy number variations associated with dominant inherited phenotypes. Journal of medical genetics, Epub. https://doi.org/10.1136/jmg-2023-109473

  8. Cortese, A., Beecroft, S. J., Facchini, S., Curro, R., Cabrera-Serrano, M., Stevanovski, I., Chintalaphani, S., Gamaarachchi, H., Weisburd, B., Folland, C., Monahan, G., Scriba, C. K., Dofash, L., Johari, M., Grosz, B. R., Ellis, M., Fearnley, L. G., Tankard, R., Read, J., … Ravenscroft, G. (2023). A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. medRxiv : the preprint server for health sciences. https://doi.org/10.1101/2023.10.09.23296582

  9. Monteiro, P., Remy, D., Lemerle, E., Routet, F., Macé, A. S., Guedj, C., Ladoux, B., Vassilopoulos, S., Lamaze, C., & Chavrier, P. (2023). A mechanosensitive caveolae-invadosome interplay drives matrix remodelling for cancer cell invasion. Nature cell biology. https://doi.org/10.1038/s41556-023-01272-z

  10. Slioussarenko, C., Baudin, P. Y., Reyngoudt, H., & Marty, B. (2023). Bi-component dictionary matching for MR fingerprinting for efficient quantification of fat fraction and water T1 in skeletal muscle. Magnetic resonance in medicine. https://doi.org/10.1002/mrm.29901

  11. Geoffroy, M., Pili, L., Buffa, V., Caroff, M., Bigot, A., Gicquel, E., Rouby, G., Richard, I., & Fragnoud, R. (2023). CRISPR-Cas9 KO Cell Line Generation and Development of a Cell-Based Potency Assay for rAAV-FKRP Gene Therapy. Cells, 12(20). https://doi.org/10.3390/cells12202444

  12. Ginjupalli, V. K. M., Cupelli, M., Reisqs, J. B., Sleiman, Y., El-Sherif, N., Gourdon, G., Puymirat, J., Chahine, M., & Boutjdir, M. (2023). Electrophysiological basis of cardiac arrhythmia in a mouse model of myotonic dystrophy type 1. Frontiers in physiology, 14, 1257682. https://doi.org/10.3389/fphys.2023.1257682

  13. Fromes, Y., Chasseloup, F., Bouvattier, C., Creze, M., Trabado, S., Young, J., Chanson, P., Marty, B., & Kamenický, P. (2023). Growing heart in congenital hypopituitarism treated in adulthood. Lancet (London, England), 402. https://doi.org/10.1016/S0140-6736(23)02022-6

  14. Khamaysa, M., Lefort, M., Pélégrini-Issac, M., Lackmy-Vallée, A., Mendili, M. M. E., Preuilh, A., Devos, D., Bruneteau, G., Salachas, F., Lenglet, T., Amador, M. M., Le Forestier, N., Hesters, A., Gonzalez, J., Rolland, A. S., Desnuelle, C., Chupin, M., Querin, G., Georges, M., … Pradat, P. F. (2023). Quantitative brainstem and spinal MRI in amyotrophic lateral sclerosis: implications for predicting noninvasive ventilation needs. Journal of neurology. https://doi.org/10.1007/s00415-023-12045-x

  15. Blasi, L., Sabbatini, D., Fortuna, A., Querin, G., Martinelli, I., Vianello, S., Bertolin, C., Pareyson, D., Pennuto, M., Pegoraro, E., Bello, L., & Soraru, G. (2023). The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA). Scientific Reports, 13(1), 17311. https://doi.org/10.1038/s41598-023-44419-6

  16. Fenioux, C., Abbar, B., Boussouar, S., Bretagne, M., Power, J. R., Moslehi, J. J., Gougis, P., Amelin, D., Dechartres, A., Lehmann, L. H., Courand, P. Y., Cautela, J., Alexandre, J., Procureur, A., Rozes, A., Leonard-Louis, S., Qin, J., Cheynier, R., Charmeteau-De Muylder, B., … Salem, J. E. (2023). Thymus alterations and susceptibility to immune checkpoint inhibitor myocarditis. Nature medicine. https://doi.org/10.1038/s41591-023-02591-2

  17. Lemmers, R. J. L. F., Butterfield, R., van der Vliet, P. J., De Bleecker, J. L., van der Pol, L., Dunn, D. M., Erasmus, C. E., D'Hooghe, M., Verhoeven, K., Balog, J., Bigot, A., van Engelen, B., Statland, J., Bugiardini, E., van der Stoep, N., Evangelista, T., Marini-Bettolo, C., van den Bergh, P., Tawil, R., … van der Maarel, S. M. (2023). Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy. Brain : a journal of neurology, Epub. https://doi.org/10.1093/brain/awad312

  18. Gregory, E. F., Kalra, S., Brock, T., Bonne, G., Luxton, G. W. G., Hopkins, C., & Starr, D. A. (2023). Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA. PLoS Genetics, 19(8). https://doi.org/10.1371/journal.pgen.1010895

  19. Benarroch, L., Madsen-Østerbye, J., Abdelhalim, M., Mamchaoui, K., Ohana, J., Bigot, A., Mouly, V., Bonne, G., Bertrand, A. T., & Collas, P. (2023). Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts. Cells, 12(15), 1995. https://doi.org/10.3390/cells12151995

  20. Sharshar, T., Mazeraud, A., & Birnbaum, S. (2023). Corticosteroids in Generalized Autoimmune Myasthenia Gravis: A Narrative Review. RRNMF Neuromuscular Journal, 4(3), 176. https://doi.org/10.17161/rrnmf.v4i3.19542