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. Theuriet, J., Fernandez-Eulate, G., Latour, P., Stojkovic, T., Masingue, M., Vidoni, L., Bernard, E., Jacquier, A., Schaeffer, L., Salort-Campana, E., Chanson, J. B., Pakleza, A. N., Kaminsky, A. L., Svahn, J., Manel, V., Bouhour, F., & Pégat, A. (2023). Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-023-01407-8

  2. Urtizberea, J. A., Severa, G., & Malfatti, E. (2023). Metabolic Myopathies in the Era of Next-Generation Sequencing. Genes, 14(5), 954. https://doi.org/10.3390/genes14050954

  3. Stonadge, A., Genzor, A. V., Russell, A., Hamed, M. F., Romero, N. B., Evans, G., Pownall, M. E., Bekker-Jensen, S., & Blanco, G. (2023). Myofibrillar myopathy hallmarks associated with ZAK deficiency. Human molecular genetics. https://doi.org/10.1093/hmg/ddad113

  4. Fernandez-Eulate, G., Theuriet, J., Record, C. J., Querin, G., Masingue, M., Leonard-Louis, S., Behin, A., Le Forestier, N., Pégat, A., Michaud, M., Chanson, J. B., Nadaj-Pakleza, A., Tard, C., Bedat-Millet, A. L., Sole, G., Spinazzi, M., Salort-Campana, E., Echaniz-Laguna, A., Poinsignon, V., … Stojkovic, T. (2023). Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy. Neurology. Genetics, 9(4). https://doi.org/10.1212/NXG.0000000000200087

  5. Mackels, L., Liu, X., Bonne, G., & Servais, L. (2023). TOR1AIP1-Associated Nuclear Envelopathies. International Journal of molecular sciences, 24(8), 6911. https://doi.org/10.3390/ijms24086911

  6. De Ridder, W., de Vries, G., Van Schil, K., Deconinck, T., Mouly, V., Straub, V., & Baets, J. (2023). A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype. Neuromuscular disorders : NMD, 33(5), 432. https://doi.org/10.1016/j.nmd.2023.04.003

  7. Marty, B., Baudin, P. Y., Araujo, E. C. A., Fromes, Y., Wahbi, K., & Reyngoudt, H. (2023). Assessment of Extracellular Volume Fraction in Becker Muscular Dystrophy by Using MR Fingerprinting. Radiology. https://doi.org/10.1148/radiol.221115

  8. Rose, N., Estrada Chavez, B., Sonam, S., Nguyen, T., Grenci, G., Bigot, A., Muchir, A., Ladoux, B., Cadot, B., Le Grand, F., & Trichet, L. (2023). Bioengineering a miniaturized in vitro 3D myotube contraction monitoring chip to model muscular dystrophies. Biomaterials, 293, 121935. https://doi.org/10.1016/j.biomaterials.2022.121935

  9. Lemerle, E., Laine, J., Benoist, M., Moulay, G., Bigot, A., Labasse, C., Madelaine, A., Canette, A., Aubin, P., Vallat, J. M., Romero, N. B., Bitoun, M., Mouly, V., Marty, I., Cadot, B., Picas, L., & Vassilopoulos, S. (2023). Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation. eLife, 12, e84139. https://doi.org/10.7554/eLife.84139

  10. Ayyar Gupta, V., Pitchforth, J. M., Domingos, J., Ridout, D., Iodice, M., Rye, C., Chesshyre, M., Wolfe, A., Selby, V., Mayhew, A., Mazzone, E. S., Ricotti, V., Hogrel, J. Y., Niks, E. H., De Groot, I., Servais, L., Straub, V., Mercuri, E., Manzur, A. Y., & Muntoni, F. (2023). Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy. PLoS ONE, 18(4), e0283669. https://doi.org/10.1371/journal.pone.0283669

  11. Llansó, L., Moore, U., Bolano-Diaz, C., James, M., Blamire, A. M., Carlier, P. G., Rufibach, L., Gordish-Dressman, H., Boyle, G., Hilsden, H., Day, J. W., Jones, K. J., Bharucha-Goebel, D. X., Salort-Campana, E., Pestronk, A., Walter, M. C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., … Diaz-Manera, J. (2023). Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern. Neuromuscular disorders : NMD, 33(4), 349. https://doi.org/10.1016/j.nmd.2023.02.007

  12. Birnbaum, S., Sharshar, T., Ropers, J., Portero, P., & Hogrel, J. Y. (2023). Neuromuscular fatigue in autoimmune myasthenia gravis: A cross-sectional study. Neurophysiologie clinique = Clinical neurophysiology, 53(4), 102844. https://doi.org/10.1016/j.neucli.2023.102844

  13. Reyngoudt, H., Baudin, P. Y., Carlier, P. G., Lopez Kolkovsky, A. L., de Almeida Araujo, E. C., & Marty, B. (2023). New Insights into the Spread of MRS-Based Water T2 Values Observed in Highly Fatty Replaced Muscles. Journal of magnetic resonance imaging : JMRI. https://doi.org/10.1002/jmri.28669

  14. Bargui, R., Solgadi, A., Dumont, F., Prost, B., Vadrot, N., Filipe, A., Ho, A. T. V., Ferreiro, A., & Moulin, M. (2023). Sex-Specific Patterns of Diaphragm Phospholipid Content and Remodeling during Aging and in a Model of SELENON-Related Myopathy. Biomedicines, 11(2), 234. https://doi.org/10.3390/biomedicines11020234

  15. Taglietti, V., Kefi, K., Rivera, L., Bergiers, O., Cardone, N., Coulpier, F., Gioftsidi, S., Drayton-Libotte, B., Hou, C., Authier, F. J., Pietri-Rouxel, F., Robert, M., Bremond-Gignac, D., Bruno, C., Fiorillo, C., Malfatti, E., Lafuste, P., Tiret, L., & Relaix, F. (2023). Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophy. Science translational medicine, 15(685), eadd5275. https://doi.org/10.1126/scitranslmed.add5275

  16. Dewilde, S., Philips, G., Paci, S., Beauchamp, J., Chiroli, S., Quinn, C., Day, L., Larkin, M., Palace, J., Berrih-Aknin, S., Claeys, K. G., Muppidi, S., Mantegazza, R., Saccà, F., Meisel, A., Bassez, G., Murai, H., & Janssen, M. F. (2023). Patient-reported burden of myasthenia gravis: baseline results of the international prospective, observational, longitudinal real-world digital study MyRealWorld-MG. BMJ Open, 13(1), e066445. https://doi.org/10.1136/bmjopen-2022-066445