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. Allenbach, Y., & Benveniste, O. (2026). Inflammatory Myopathies. The New England journal of medicine, 394(19), 1925. https://doi.org/10.1056/NEJMra2415426

  2. Hogrel, J. Y., Fer, F., Ledoux, I., Petit, F., Darce-Bello, M., Labrune, P., Wahbi, K., Habes, D., Gardin, A., Masingue, M., Laforet, P., & Decostre, V. (2026). Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials. Journal of neurology, 273(5). https://doi.org/10.1007/s00415-026-13793-2

  3. Hakala, M., Moparthi, S. B., Ganeva, I., Gül, M., Bernat-Silvestre, C., Marcuello, C., Espadas, J., Colom, A., Kudryashev, M., Kukulski, W., Vassilopoulos, S., Kaksonen, M., & Roux, A. (2026). Two-dimensional HRS condensates drive the assembly of flat clathrin lattices on endosomes. Nature communications, Epub. https://doi.org/10.1038/s41467-026-73132-x

  4. Montagu, G., Boyer, F. C., Gargiulo, M., Pouplin, S., Barrière, A., Berling, E., Bonnyaud, C., Cintas, P., Hogrel, J. Y., Le Goff, L., Marchadier, B., N'Dah Sekou, G., Orlikowski, D., Prigent, H., Pruvot, A., Ropars, J., Salort-Campana, E., Stojkovic, T., Nicolas, G., … Laforet, P. (2026). A qualitative study of the discrepancy between patient expectations and assessment practices in 5q-adult spinal muscular atrophy in France. Journal of Neuromuscular Diseases, Epub. https://doi.org/10.1177/22143602251413326

  5. Caramizaru, A., Onnée, M., Nikitin, S., Dobrescu, A., Severa, G., Murtazina, A., Urtizberea, J. A., Lefaucheur, J. P., Carlier, R. Y., Metay, C., & Malfatti, E. (2026). ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods. Neuropathology and applied neurobiology, 52(2), e70067. https://doi.org/10.1111/nan.70067

  6. Quarta, R., Boccanegra, B., Cristiano, E., Ladisa, A., Conte, E., Ohana, J., Mouly, V., de Luca, A., Hildyard, J., & Cappellari, O. (2026). Best reference genes for unbiased normalized transcript expression in normal and dystrophic human cell models of myogenesis. PLoS ONE, 21(3), e0344973. https://doi.org/10.1371/journal.pone.0344973

  7. Ralu, M., Guiraud, S., Dastidar, S., Galbiati, P., Sadaoui, E., Mazed, F., Amor, F., De Cian, A., Richard, I., Mamchaoui, K., Ronzitti, G., Tedesco, F. S., & Amendola, M. (2026). CRISPR-Cas9-Mediated Upregulation of Utrophin Ameliorates Duchenne Muscular Dystrophy. Molecular therapy : the journal of the American Society of Gene Therapy, Epub. https://doi.org/10.1016/j.ymthe.2026.03.025

  8. Bruge, C., Bourg, N., Pellier, E., Miagoux, Q., Benabides, M., Grossi, N., Hayat, H., Jarrige, M., Polveche, H., Agostini, V., Brureau, A., Vassilopoulos, S., Evangelista, T., Fernandez-Eulate, G., Stojkovic, T., Richard, I., & Nissan, X. (2026). DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation. JCI insight, 11(6), e200054. https://doi.org/10.1172/jci.insight.200054

  9. Gervais, A., Marchal, A., Maillard, A., Le Voyer, T., Rosain, J., Philipot, Q., Bizien, L., Peel, J., Cederholm, A., Migaud, M., Pons, S., Saker, K., Laforet, P., Aubart, M., Gitiaux, C., Biggs, C., Leon Lopez, R., Souvannanorath, S., Tard, C., … Jouanguy, E. (2026). High risk of hypoxemic COVID-19 pneumonia in myasthenia gravis patients with type I IFN autoantibodies. medRxiv : the preprint server for health sciences. https://doi.org/10.64898/2026.03.27.26349525

  10. Ghosh, S., Arshi, M. U., Ghosh, S., Jana, A., Jash, M., Khan, J., Ram, H., Mamchaoui, K., & Ghosh, S. (2026). Mitochondria-targeted engineered peptide promotes myogenesis, mitigates fibrosis, and reduces inflammation in duchenne muscular dystrophy by suppressing mitoROS-mediated NF-κB activation. European journal of medicinal chemistry, 310(Epub), 118777. https://doi.org/10.1016/j.ejmech.2026.118777

  11. Mathy, C. S., Gast, L. V., Holtzhausen, C., Gerhalter, T., Stuprich, C., Türk, M., Heiss, R., Marty, B., Laun, F. B., Wanschitz, J. V., Hametner, S., Dörfler, A., Uder, M., Bäuerle, T., Nagel, A. M., & Schröder, R. (2026). Multi-Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study. Journal of cachexia, sarcopenia and muscle, 17(2), e70245. https://doi.org/10.1002/jcsm.70245

  12. Theuriet, J., Michaud, M., Fargeot, G., Labeyrie, C., Grosset, A., Bucy, M., Kouton, L., Hubben, F., Manel, V., Cluse, F., Bohic, A., Rodríguez, N., Petiot, P., Billaud, G., Fabry, V., Cintas, P., Maisonobe, T., Viala, K., Debs, R., … Pégat, A. (2026). Multiple Mononeuropathy Secondary to Parvovirus B19 Infection: A Case Series. European journal of neurology, 33(3), e70565. https://doi.org/10.1111/ene.70565

  13. Dowling, P., Bouragba, D., Negroni, E., Trollet, C., Zweyer, M., Swandulla, D., & Ohlendieck, K. (2026). Potential proteomic biomarkers for monitoring clinical studies in Duchenne/Becker muscular dystrophy. Expert review of proteomics, Epub. https://doi.org/10.1080/14789450.2026.2669276

  14. Wenninger, S., Evangelista, T., Cao, M., Fauroux, B., Benditt, J., Sasaki-Honda, M., Hewamadduma, C., & Voermans, N. C. (2026). Respiratory insufficiency and sleep impairment in facioscapulohumeral muscular dystrophy. Neuromuscular disorders : NMD, 63, 106419. https://doi.org/10.1016/j.nmd.2026.106419

  15. Kervella, M., Behrens, C. S., Peccate, C., Guesmia, Z., Grandi, F., Mougenot, N., Forand, A., Charrabi, A., Brochier, G., Andriantsitohaina, R., Singh, S. R., Eschenhagen, T., Meli, A. C., & Muchir, A. (2026). Simtuzumab Attenuates Loxl2-Mediated Extracellular Matrix Remodeling and Preserves Cardiac Function in LMNA Mutation-Induced Dilated Cardiomyopathy. Circulation. Heart failure, Epub, e013806. https://doi.org/10.1161/CIRCHEARTFAILURE.125.013806

  16. Pauper, M., Kolbel, H., Karakesisoglou, I., Schänzer, A., Bohm, J., Thompson, R., Kohlschmidt, N., Ringel, B., Bonne, G., Neuhoff, K., Gangfuss, A., Kilicarslan, O. A., Agullo, S. B., Hentschel, A., Schara-Schmidt, U., Lochmuller, H., Polavarapu, K., & Roos, A. (2026). A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies. Brain pathology (Zurich, Switzerland), e70082. https://doi.org/10.1111/bpa.70082

  17. Andersen, L. K., Birnbaum, S., Missel, M., Petersen, K. G., Mohringer, C., Deurell, E., Witting, N., & Vissing, J. (2026). Assessing respiratory status in myasthenia gravis: limited value of the MG-ADL as a standalone tool compared with spirometry in a Danish cohort. Journal of neurology, 273(4), 231. https://doi.org/10.1007/s00415-026-13757-6

  18. Missel, M., Donsel, P. O., Nielsen, T. F., Secher, E. L., Medeiros, E. B. Z., Rude, K., Højgaard, J. L. S., Viby, N. E., Birnbaum, S., Andersen, L. K., Petersen, R. H., & Witting, N. (2026). Caring beyond the procedure: a qualitative study on thoracic surgery nurses’ perspectives on chronic illness experiences of individuals with myasthenia gravis undergoing thymectomy. BMJ Open, 16(3), e109575. https://doi.org/10.1136/bmjopen-2025-109575

  19. González-Martínez, I., Cerro-Herreros, E., Carrascosa-Sàez, M., García-Rey, A., Piqueras-Losilla, D., Colom-Rodrigo, A., Moreno, N., Chakraborty, M., Huguet-Lachon, A., Gonzalez-Barriga, A., Naldaiz-Gastesi, N., Dehesa, M., Díaz-Maqueda, A., Barquero, N., Varela, M. A., Lopez de Munain, A., Eritja, R., Gourdon, G., Lopez-Castel, A., … Artero, R. (2026). Enhanced muscle uptake of chemically optimized miR-23b antisense oligonucleotides as lead compounds for myotonic dystrophy type 1. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2026.01.016

  20. El-Hayek, S., Rad, A., Sedighzadeh, S., Yesil, G., Sabbagh, S., Shahrooei, M., Nair, P., Gedikbaşı, A., Bizzari, S., Ali, M., Chouery, E., Mehawej, C., Aslanger, A., Rohani, P., Sharifzadeh, M., Akbas, S., Mohammadi-Asl, J., Behnam, M., Corbani, S., … Mégarbané, A. (2026). Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy. Journal of Neuromuscular Diseases, Epub. https://doi.org/10.1177/22143602261436296