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. Chitimus, D. M., Tard, C., Fournier, M., Bouhour, F., Behin, A., Salort-Campana, E., Lagrange, E., Kaminsky, A. L., Magot, A., Beltran, S., Noury, J. B., Magy, L., Sole, G., Renard, D., Spinazzi, M., Demurger, F., Cintas, P., Nadaj-Pakleza, A., Deibener-Kaminsky, J., … Laforet, P. (2025). Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study. European journal of neurology, 32(10). https://doi.org/10.1111/ene.70394

  2. Benarroch, L., Boëlle, P. Y., Madry, H., Mohand Oumoussa, B., Eura, N., Nishino, I., Labrèche, K., Gorbunova, V., Bassez, G., Stojkovic, T., Gourdon, G., Bonne, G., & Tome, S. (2025). Comparative Analysis of CRISPR/Cas9-targeted Nanopore Sequencing Approaches in Repeat Expansion Disorders. Genomics, proteomics & bioinformatics. https://doi.org/10.1093/gpbjnl/qzaf094

  3. Birnbaum, S., & Andersen, L. K. (2025). Exercise and myasthenia gravis. International review of neurobiology. https://doi.org/10.1016/bs.irn.2025.04.022

  4. Guennec, B. E., Hovhannisyan, Y., Revet, G., Polat, S., Hassani, M., Mougenot, N., Barthelemy, I., Blot, S., Cieniewski-Bernard, C., Ferry, A., Kordeli, E., Li, Z., & Agbulut, O. (2025). Exploring Desmin as a Potential Modifier in Duchenne Muscular Dystrophy-Associated Cardiomyopathy. Acta physiologica (Oxford, England), 241(12). https://doi.org/10.1111/apha.70117

  5. Mangeat, T., Mairaville, C., Chentouf, M., Neiveyans, M., Pugnière, M., Ngo, G., Denis, V., Catherine, C., Pichard, A., Deshayes, E., Maurel, M., Gracia, M., Bigot, A., Mouly, V., Estaran, S., Chavanieu, A., Martineau, P., & Robert, B. (2025). Generation Using Phage-Display of pH-Dependent Antibodies Against the Tumor-Associated Antigen AXL. Antibodies (Basel, Switzerland), 14(4). https://doi.org/10.3390/antib14040083

  6. Jabre, S., Cherchame, E., Pinzon, N., Lemerle, E., Bitoun, M., & Coirault, C. (2025). Lamin A/C protects chromatin accessibility during mechanical loading in human skeletal muscle. Cell communication and signaling : CCS, 23(1). https://doi.org/10.1186/s12964-025-02437-z

  7. Jaber, A., Palmieri, L., Bakour, R., Bourg, N., Hong, A. V., Lachiver, E., Roudaut, C., Poupiot, J., Albini, S., Stockholm, D., Van Wittenberghe, L., Miranda, A., Tanniou, G., Daniele, N., Barthelemy, I., Blot, S., Bui, M. T., Das, B., Malfatti, E., … Israeli, D. (2025). Lysosomal damage is a therapeutic target in Duchenne muscular dystrophy. Science advances, 11(43). https://doi.org/10.1126/sciadv.adv6805

  8. Douarre, C., Cadot, B., Muchir, A., & Bauche, S. (2025). Role of Nuclear Envelope Proteins in the Structure and Function of the Neuromuscular Junction: Focus on Subsynaptic Nuclei. Sub-cellular biochemistry, 115, 23. https://doi.org/10.1007/978-3-032-00537-3_2

  9. Kervella, M., & Muchir, A. (2025). Role of Nuclear Lamins in the Regulation of the Genome: Focus on CardioLaminopathy. Sub-cellular biochemistry, 115. https://doi.org/10.1007/978-3-032-00537-3_1

  10. Naumovski, P., De Spiegeleer, B., Wakjira, A., Van De Wiele, C., Mouly, V., Goljanek-Whysall, K., da Costa, K. S., de Oliveira, E. C. L., Wynendaele, E., & De Spiegeleer, A. (2025). Role of Peptides in Skeletal Muscle Wasting: A Scoping Review. Journal of cachexia, sarcopenia and muscle, 16(6), e70109. https://doi.org/10.1002/jcsm.70109

  11. Mekzine, L., Pinzon, N., Mamchaoui, K., Kondili, M., Cadot, B., Bitoun, M., & Trochet, D. (2025). Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome. American journal of human genetics, 112(10). https://doi.org/10.1016/j.ajhg.2025.07.010

  12. Peeples, S. M., Blake, K., Sutton, B. L. M., Konyukh, M., Zuchner, S., Stojkovic, T., Baets, J., & Antonellis, A. (2025). Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties. HGG advances, 7(1). https://doi.org/10.1016/j.xhgg.2025.100519

  13. Iff, J., Desguerre, I., Liu, Y., Sarkozy, F., Tuttle, E., Muntoni, F., McDonald, C. M., Nougues, M. C., Amthor, H., Zhong, Y., & Wahbi, K. (2025). Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophy. Journal of Neuromuscular Diseases, 22143602251366721. https://doi.org/10.1177/22143602251366721

  14. Clémenty, N., Labombarda, F., Grolleau, F., Algalarrondo, V., Bassez, G., Bécane, H. M., Behin, A., Chapon, F., El Hachmi, M., Fayssoil, A., Fontaine, B., Garcia, R., Laforet, P., Lazarus, A., Masingue, M., Magot, A., Pereon, Y., Probst, V., Motte, L., … Wahbi, K. (2025). Electrocardiogram vs Electrophysiological Study and Major Conduction Delays in Myotonic Dystrophy Type 1. JAMA cardiology. https://doi.org/10.1001/jamacardio.2025.3055

  15. Muchir, A. (2025). Fighting for every beat: cardiac therapies in Duchenne muscular dystrophy. Skeletal Muscle, 15(1), 25. https://doi.org/10.1186/s13395-025-00394-2

  16. Chitimus, D. M., Adam, C., Cauquil, C., Keren, B., Heming, N., Amthor, S., Annane, D., Nicolas, G., Laforet, P., Metay, C., & Lefeuvre, C. (2025). Homozygous DNAJB4 deletion revealing myopathy with acute respiratory failure. Revue neurologique. https://doi.org/10.1016/j.neurol.2025.07.004

  17. Souza, L. S., Ishiba, R., Ribeiro-Junior, A. F., Zogbi, I. A., Bouragba, D., Bigot, A., Mouly, V., & Vainzof, M. (2025). Impaired myogenesis in limb girdle muscular dystrophy type 2B. Scientific Reports, 15(1), 33948. https://doi.org/10.1038/s41598-025-10205-9

  18. Bayer, A. C., Pinzon, N., You, A., Bergman, C., Dragin, N., Corneau, A., Truffault, F., Noël, D., Martinaud, C., Le Panse, R., Berrih-Aknin, S., & Vilquin, J. T. (2025). Mesenchymal stromal cells conditioned by peripheral blood mononuclear cells exert enhanced immunomodulation capacities and alleviate a model of Myasthenia Gravis. Stem cell research & therapy, 16(1). https://doi.org/10.1186/s13287-025-04534-9

  19. Sanson, B., Slioui, A., Garcia, J., Klouvi, L., Lejeune, J., Stalens, C., Guien, C., Rabarimeriarijaona, S., Bernard, R., Nectoux, J., Attarian, S., Bedat-Millet, A. L., Bouhour, F., Boyer, F. C., Chanson, J. B., Choumert, A., Cintas, P., De La Cruz, E., Féasson, L., … Sacconi, S. (2025). Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry. Orphanet journal of rare diseases, 20(1), 470. https://doi.org/10.1186/s13023-025-03877-z

  20. Yépez, V. A., Demidov, G., Ellwanger, K., Laurie, S., Luknárová, R., Joseph Maran, M. I., Hentrich, T., Sagath, L., van der Sanden, B., Astuti, G., Neveling, K., Batlle-Masó, L., Beijer, D., Brechtmann, F., Caballero-Oteyza, A., Dabad, M., Denommé-Pichon, A. S., Doornbos, C., Eddafir, Z., … Graessner, H. (2025). The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease. Nature genetics, Epub. https://doi.org/10.1038/s41588-025-02290-3