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. Kleefeld, F., Preusse, C., Schänzer, A., Nishimura, A., Hahn, K., Louis, S., Benveniste, O., Allenbach, Y., Goebel, H., Schülke-Gerstenfeld, M., & Stenzel, W. (2023). Longitudinal TDP43-associated cryptic exon splicing in early and full-blown inclusion body myositis. Brain, 33. https://doi.org/10.1111/bpa.13194

  2. Le Guiner, C., Fraysse, B., Testault, I., Wahbi, K., Couzinié, C., Adjali, O., Dickson, G., Creoff, E., Veron, P., & Braun, S. (2023). More Than Nine Year Survival of a GRMD Dog after Injection of AAV-Microdystrophin Gene Therapy. Molecular therapy, 31(4), 33. https://doi.org/10.1016/j.ymthe.2023.04.017

  3. Dietz, J., Jacobsen, F., Zhuge, H., Daya, N., Bigot, A., Zhang, W., Ehrhardt, A., Vorgerd, M., & Ehrke-Schulz, E. (2023). Muscle Specific Promotors for Gene Therapy – A Comparative Study in Proliferating and Differentiated Cells. Journal of Neuromuscular Diseases, 10(4), 575-592. https://doi.org/10.3233/JND-221574

  4. El Khoury, M., Biondi, O., Bruneteau, G., Sapaly, D., Bendris, S., Bezier, C., Clerc, Z., Akar, E. A., Weill, L., Eid, A. A., & Charbonnier, F. (2023). NADPH oxidase 4 inhibition is a complementary therapeutic strategy for spinal muscular atrophy. Frontiers in cellular neuroscience, 17. https://doi.org/10.3389/fncel.2023.1242828

  5. Holland, A., Klein, A., Godfrey, C., Larkindale, J., Svenstrup, N., Bracegirdle, S., Furling, D., Garg, B., McArthur, J., Foy, J., Mellion, M., & Goyal, J. (2023). PGN-EDODM1 Nonclinical Data Demonstrate Potential for Meaningful Impact in Myotonic Dystrophy Type 1 (DM1): Support for Phase 1 Clinical Trial Design. Molecular therapy, 31(4), 107. https://doi.org/10.1016/j.ymthe.2023.04.017

  6. Laugel, V., De Lucia, S., Davion, J., Montier, T., Espil, C., Le Goff, L., Chabrol, B., Cao, F., Balandraud, S., Thibaut, L., Blaie, S., Oswall, B., Furgerson, M., Hogrel, J., Guemas, E., & Muntoni, F. (2023). Preliminary Results from a Prospective, Multicentric, Follow Up Standardized Cohort to Assess Natural History of Duchenne Muscular Dystrophy. Molecular therapy, 31(4). https://doi.org/10.1016/j.ymthe.2023.04.017

  7. Benarroch, L., Bonne, G., Rivier, F., & Hamroun, D. (2023). The 2023 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscular disorders : NMD, 33(1), 76. https://doi.org/10.1016/j.nmd.2022.12.002

  8. Babaee, M., Urtizberea, J. A., Fatehi, F., & Rayegani, S. M. (2023). What is the Next Step after an Electrodiagnostic Study in Children with Polyneuropathies? Rationale for Laboratory and Other Diagnostic Tests. Iranian journal of child neurology, 17(4), 9-22. https://doi.org/10.22037/ijcn.v17i4.43124

  9. Bondeelle, L., Vercellino, L., Dres, M., Bachasson, D., Demoule, A., Morelot-Panzini, C., Similowski, T., & Bergeron, A. (2023). 18 F-FDG uptake by respiratory muscles in acute respiratory insufficiency in a patient with graft versus host disease. Respiratory medicine and research, 84. https://doi.org/10.1016/j.resmer.2023.101023

  10. Pinton, L., Khedr, M., Lionello, V. M., Sarcar, S., Maffioletti, S. M., Dastidar, S., Negroni, E., Choi, S., Khokhar, N., Bigot, A., Counsell, J. R., Bernardo, A. S., Zammit, P. S., & Tedesco, F. S. (2023). 3D human induced pluripotent stem cell-derived bioengineered skeletal muscles for tissue, disease and therapy modeling. Nature Protocols, 18(4), 1337-1376. https://doi.org/10.1038/s41596-022-00790-8

  11. Benzi, A., Baratto, S., Astigiano, C., Sturla, L., Panicucci, C., Mamchaoui, K., Raffaghello, L., Bruzzone, S., Gazzerro, E., & Bruno, C. (2023). Aberrant Adenosine Triphosphate Release and Impairment of P2Y2-Mediated Signaling in Sarcoglycanopathies. Laboratory investigation; a journal of technical methods and pathology, 103(3). https://doi.org/10.1016/j.labinv.2022.100037

  12. Neyroud, D., Laitano, O., Dasgupta, A., Lopez, C., Schmitt, R. E., Schneider, J. Z., Hammers, D. W., Sweeney, H. L., Walter, G. A., Doles, J., Judge, S. M., & Judge, A. R. (2023). Blocking muscle wasting via deletion of the muscle-specific E3 ligase MuRF1 impedes pancreatic tumor growth. Communications biology, 6(1), 519. https://doi.org/10.1038/s42003-023-04902-2

  13. Cardone, N., Moula, M., Baelde, R. J., Biquand, A., Villanova, M., Metay, C., Fiorillo, C., Baratto, S., Merlini, L., Sabatelli, P., Romero, N. B., Relaix, F., Authier, F. J., Taglietti, V., Savarese, M., De Winter, J., Ottenheijm, C., Richard, I., & Malfatti, E. (2023). Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant. Acta neuropathologica communications, 11(1), 48. https://doi.org/10.1186/s40478-023-01539-4

  14. Poyatos-García, J., Blázquez-Bernal Á, Selva-Giménez, M., Bargiela, A., Espinosa-Espinosa, J., Vázquez-Manrique, R. P., Bigot, A., Artero, R., & Vilchez, J. J. (2023). CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2. Molecular therapy. Nucleic acids, 31, 324-338. https://doi.org/10.1016/j.omtn.2023.01.004

  15. Martin, R. A., Viggars, M. R., & Esser, K. A. (2023). Metabolism and exercise: the skeletal muscle clock takes centre stage. Nature reviews. Endocrinology, 19(5), 272-284. https://doi.org/10.1038/s41574-023-00805-8

  16. Berrih-Aknin, S., Palace, J., Meisel, A., Claeys, K. G., Muppidi, S., Saccà, F., Amini, F., Larkin, M., Quinn, C., Beauchamp, J., Philips, G., De Ruyck, F., Ramirez, J., & Paci, S. (2023). Patient-reported impact of myasthenia gravis in the real world: findings from a digital observational survey-based study (MyRealWorld MG). BMJ Open, 13(5). https://doi.org/10.1136/bmjopen-2022-068104

  17. Porquet, F., Weidong, L., Jehasse, K., Gazon, H., Kondili, M., Blacher, S., Massotte, L., Di Valentin, E., Furling, D., Gillet, N. A., Klein, A. F., Seutin, V., & Willems, L. (2023). Specific DMPK-promoter targeting by CRISPRi reverses myotonic dystrophy type 1-associated defects in patient muscle cells. Molecular therapy. Nucleic acids, 32, 857. https://doi.org/10.1016/j.omtn.2023.05.007

  18. Nguyen, Q. Q., Zhou, Y., Cheng, M. S., Qin, X., Cheng, H. C. M., Liu, X., Sweeney, H. L., & Park, H. (2023). The Antiparallel Coiled-Coil Domain Allows Multiple Forward Step Sizes of Myosin X. The journal of physical chemistry letters, 14(21), 4914-4922. https://doi.org/10.1021/acs.jpclett.3c00512

  19. Dentice, M., Biressi, S., Giordani, L., & Guardiola, O. (2023). Editorial: Cellular heterogeneity in physiological and pathological myogenesis. Frontiers in cell and developmental biology, 11. https://doi.org/10.3389/fcell.2023.1235520

  20. Norris, A. M., Appu, A. B., Johnson, C. D., Zhou, L. Y., McKellar, D. W., Renault, M. A., Hammers, D., Cosgrove, B. D., & Kopinke, D. (2023). Hedgehog signaling via its ligand DHH acts as cell fate determinant during skeletal muscle regeneration. Nature communications, 14(1), 3766. https://doi.org/10.1038/s41467-023-39506-1