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. Mancuso, M., Lopriore, P., Lamperti, C., Klopstock, T., Rahman, S., Licchetta, L., Kornblum, C., Wortmann, S. B., Dollfus, H., Papadopoulou, M. T., Arzimanoglou, A., Scarpa, M., Graessner, H., & Evangelista, T. (2023). Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey. Journal of neurology, Epub. https://doi.org/10.1007/s00415-023-12017-1

  2. Cannie, D. E., Syrris, P., Protonotarios, A., Bakalakos, A., Pruny, J. F., Ditaranto, R., Martinez-Veira, C., Larranaga-Moreira, J. M., Medo, K., Bermúdez-Jiménez, F. J., Ben Yaou, R., Leturq, F., Mezcua, A. R., Marini-Bettolo, C., Cabrera, E., Reuter, C., Limeres Freire, J., Rodríguez-Palomares, J. F., Mestroni, L., … Elliott, P. M. (2023). Emery-Dreifuss Muscular Dystrophy 1 is associated with high risk of malignant ventricular arrhythmias and end-stage heart failure. European heart journal. https://doi.org/10.1093/eurheartj/ehad561

  3. Anne-Claire, D., Coarelli, G., Heinzmann, A., Verdon, B., Manuella, L., Petit, E., Pierron, L., Levy-Soussan, M., Durr, A., Gargiulo, M., & Ewenczyk, C. (2023). End-of-Life Discussions With Patients and Caregivers Affected By Neurogenetic Diseases. Neurology. Clinical practice, 13(6), e200199. https://doi.org/10.1212/CPJ.0000000000200199

  4. Birnbaum, S., Sharshar, T., & Hogrel, J. Y. (2023). Exercise Training for autoimmune myasthenia gravis: A review of safety and effectiveness based on existing literature. RRNMF Neuromuscular Journal, 4(3), 42. https://doi.org/10.17161/rrnmf.v4i3.18699

  5. Morroni, J., Benedetti, A., Esposito, L., De Bardi, M., Borsellino, G., Riera, C. S., Giordani, L., Bouche, M., & Lozanoska-Ochser, B. (2023). Injury-experienced satellite cells retain long-term enhanced regenerative capacity. Stem cell research & therapy, 14(1), 246. https://doi.org/10.1186/s13287-023-03492-4

  6. Masingue, M., Cattaneo, O., Wolff, N., Buon, C., Sternberg, D., Euchparmakian, M., Boex, M., Behin, A., Mamchaouhi, K., Maisonobe, T., Nougues, M. C., Isapof, A., Fontaine, B., Messéant, J., Eymard, B., Strochlic, L., & Bauche, S. (2023). New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome. Scientific Reports, 13(1), 14054. https://doi.org/10.1038/s41598-023-41008-5

  7. Fontelonga, T., Hall, A. J., Brown, J. L., Jung, Y. L., Alexander, M. S., Dominov, J. A., Mouly, V., Vieira, N., Zatz, M., Vainzof, M., & Gussoni, E. (2023). Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin. Advanced biology, Epub. https://doi.org/10.1002/adbi.202300157

  8. Esteller, D., Schiava, M., Villar-Quiles, R. N., Dibowski, B., Venturelli, N., Laforet, P., Alonso-Perez, J., Olive, M., Dominguez-Gonzalez, C., Paradas, C., Velez, B., Kostera-Pruszczyk, A., Kierdaszuk, B., Rodolico, C., Claeys, K., Pal, E., Malfatti, E., Souvannanorath, S., Alonso-Jimenez, A., … Verdu-Diaz, J. (2023). Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis. Journal of neurology, Epub. https://doi.org/10.1007/s00415-023-11862-4

  9. Van Gompel, E., Demirdal, D., Fernandes-Cerqueira, C., Horuluoglu, B., Galindo-Feria, A., Wigren, E., Gräslund, S., De Langhe, E., Benveniste, O., Notarnicola, A., Chemin, K., & Lundberg, I. E. (2023). Autoantibodies against the melanoma differentiation-associated protein 5 in patients with dermatomyositis target the helicase domains. Rheumatology (Oxford, England), Epub. https://doi.org/10.1093/rheumatology/kead400

  10. Schiava, M., Ikenaga, C., Topf, A., Caballero-Ávila, M., Chou, T. F., Li, S., Wang, F., Daw, J., Stojkovic, T., Villar-Quiles, R., Nishino, I., Inoue, M., Nishimori, Y., Saito, Y., Katsuno, M., Noda, S., Ito, C., Otsuka, M., Nahir, S., … Weihl, C. C. (2023). Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy. Neurology. Genetics, 9(5), e200093. https://doi.org/10.1212/NXG.0000000000200093

  11. Papadopoulos, C., Malfatti, E., Metay, C., Keren, B., Lejeune, E., Buratti, J., Xirou, S., Chrysanthou-Piterou, M., & Papadimas, G. K. (2023). Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy. International Journal of molecular sciences, 24(13), 11181. https://doi.org/10.3390/ijms241311181

  12. Fortunato, F., Bianchi, F., Ricci, G., Torri, F., Gualandi, F., Neri, M., Farne, M., Giannini, F., Malandrini, A., Volpi, N., Lopergolo, D., Silani, V., Ticozzi, N., Verde, F., Pareyson, D., Fenu, S., Bonanno, S., Nigro, V., Peduto, C., … Ferlini, A. (2023). Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience. Orphanet journal of rare diseases, 18(1), 196. https://doi.org/10.1186/s13023-023-02776-5

  13. Fayssoil, A., Mansencal, N., Nguyen, L. S., Nardi, O., Yaou, R. B., Leturcq, F., Amthor, H., Wahbi, K., Bécane, H. M., Lofaso, F., Prigent, H., Bassez, G., Behin, A., Stojkovic, T., Fontaine, B., Duboc, D., Dubourg, O., Clair, B., Laforet, P., … Orlikowski, D. (2023). Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy. Journal of the American Heart Association, 12(16), e027231. https://doi.org/10.1161/JAHA.122.027231

  14. Lutz, M., Levanti, M., Karns, R., Gourdon, G., Lindquist, D., Timchenko, N. A., & Timchenko, L. (2023). Therapeutic Targeting of the GSK3β-CUGBP1 Pathway in Myotonic Dystrophy. International Journal of molecular sciences, 24(13), 10650. https://doi.org/10.3390/ijms241310650

  15. Walter, M. C., Laforet, P., van der Pol, W. L., & Pegoraro, E. (2023). 254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 – 30 January 2022. Neuromuscular disorders : NMD, 33(6), 511. https://doi.org/10.1016/j.nmd.2023.03.011

  16. Lefeuvre, C., Antonio, M., Bouhour, F., Tard, C., Salort-Campana, E., Lagrange, E., Behin, A., Sole, G., Noury, J. B., Sacconi, S., Magot, A., Nadaj-Pakleza, A., Lacour, A., Beltran, S., Spinazzi, M., Cintas, P., Renard, D., Michaud, M., Bedat-Millet, A. L., … Laforet, P. (2023). Characteristics of Patients With Late Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022. Neurology, Epub. https://doi.org/10.1212/WNL.0000000000207547

  17. Comarmond, C., Leclercq, M., Leroux, G., Marques, C., Le Joncour, A., Domont, F., Hatte, C., Toquet-Bouedec, S., Guillaume-Jugnot, P., Desbois, A. C., Vautier, M., Rigolet, A., Allenbach, Y., Benveniste, O., Saadoun, D., & Cacoub, P. (2023). Correspondence on ‘Impact of COVID-19 pandemic on patients with large-vessels vasculitis in Italy: a monocentric survey’. Annals of the rheumatic diseases, 82(2), e30. https://doi.org/10.1136/annrheumdis-2020-219407

  18. Smeriglio, P., & Zalc, A. (2023). Cranial Neural Crest Cells Contribution to Craniofacial Bone Development and Regeneration. Current Osteoporosis Reports. https://doi.org/10.1007/s11914-023-00804-8

  19. Magot, A., Wahbi, K., Leturcq, F., Jaffre, S., Pereon, Y., & Sole, G. (2023). Diagnosis and management of Becker muscular dystrophy: the French guidelines. Journal of neurology, Epub. https://doi.org/10.1007/s00415-023-11837-5

  20. Wicker, C., Cano, A., Decostre, V., Froissart, R., Maillot, F., Perry, A., Petit, F., Voillot, C., Wahbi, K., Wenz, J., Laforet, P., & Labrune, P. (2023). French recommendations for the management of glycogen storage disease type III. European journal of medical research, 28(1), 253. https://doi.org/10.1186/s40001-023-01212-5