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. de Feraudy, Y., Vandroux, M., Romero, N. B., Schneider, R., Saker, S., Boland, A., Deleuze, J. F., Biancalana, V., Bohm, J., & Laporte, J. (2024). Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations. Genome medicine, 16(1), 87. https://doi.org/10.1186/s13073-024-01353-0

  2. Beaufils, M., Melka, M., Brocard, J., Benoit, C., Debbah, N., Mamchaoui, K., Romero, N. B., Dalmas-Laurent, A. F., Quijano-Roy, S., Fauré, J., Rendu, J., & Marty, I. (2024). Functional benefit of CRISPR-Cas9-induced allele deletion for RYR1 dominant mutation. Molecular therapy. Nucleic acids, 35(3), 102259. https://doi.org/10.1016/j.omtn.2024.102259

  3. Clayton, J. S., Vo, C., Crane, J., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Ravenscroft, G., Laing, N. G., & Taylor, R. L. (2024). Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant. Stem cell research, 80. https://doi.org/10.1016/j.scr.2024.103491

  4. Borland, H., Moore, U., Dressman, H. G., Human, A., Mayhew, A. G., Hilsden, H., Rufibach, L. E., Duong, T., Maron, E., DeWolf, B., Rose, K., Siener, C., Thiele, S., Práxedes, N. S., Canal, A., Holsten, S., Sakamoto, C., Pedrosa-Hernandez, I., Bello, L., … Straub, V. (2024). Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy. Neuromuscular disorders : NMD, 43(Epub), 20. https://doi.org/10.1016/j.nmd.2024.08.003

  5. Pereira, C. D., Espadas, G., Martins, F., Bertrand, A. T., Servais, L., Sabidó, E., Chevalier, P., da Cruz E Silva, O. A. B., & Rebelo, S. (2024). Quantitative proteome analysis of LAP1-deficient human fibroblasts: A pilot approach for predicting the signaling pathways deregulated in LAP1-associated diseases. Biochemistry and biophysics reports, 39. https://doi.org/10.1016/j.bbrep.2024.101757

  6. Berling, E., Latour, P., Loiselet, K., Guémy, C., Vidoni, L., Romero, N. B., Lacene, E., Evangelista, T., & Stojkovic, T. (2024). Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two Cases. Neurology. Genetics, 10(5), e200178. https://doi.org/10.1212/NXG.0000000000200178

  7. Wernert, F., Moparthi, S. B., Pelletier, F., Laine, J., Simons, E., Moulay, G., Rueda, F., Jullien, N., Benkhelifa-Ziyyat, S., Papandréou, M. J., Leterrier, C., & Vassilopoulos, S. (2024). The actin-spectrin submembrane scaffold restricts endocytosis along proximal axons. Science (New York, N.Y.), 385(6711). https://doi.org/10.1126/science.ado2032

  8. Mohan, J., Moparthi, S. B., Girard-Blanc, C., Campisi, D., Blanchard, S., Nugues, C., Rama, S., Salles, A., Pénard, E., Vassilopoulos, S., & Wollert, T. (2024). ATG16L1 induces the formation of phagophore-like membrane cups. Nature structural & molecular biology, Epub. https://doi.org/10.1038/s41594-024-01300-y

  9. Truffault, F., Auger, L., Dragin, N., Vilquin, J. T., Fadel, E., Thomas de Montpreville, V., Mansuet-Lupo, A., Regnard, J. F., Alifano, M., Sharshar, T., Behin, A., Eymard, B., Bolgert, F., Demeret, S., Berrih-Aknin, S., & Le Panse, R. (2024). Comparison of juvenile and adult myasthenia gravis in a French cohort with focus on thymic histology. Scientific Reports, 14(1). https://doi.org/10.1038/s41598-024-63162-0

  10. Kaminski, H. J., Kusner, L. L., Cutter, G. R., Le Panse, R., Wright, C. D., Perry, Y., & Wolfe, G. I. (2024). Does Surgical Removal of the Thymus Have Deleterious Consequences? Neurology, 102(12). https://doi.org/10.1212/WNL.0000000000209482

  11. Attarian, S., Beloribi-Djefaflia, S., Bernard, R., Nguyen, K., Cances, C., Gavazza, C., Echaniz-Laguna, A., Espil, C., Evangelista, T., Féasson, L., Audic, F., Zagorda, B., Milhe de Bovis, V., Stojkovic, T., Sole, G., Salort-Campana, E., & Sacconi, S. (2024). French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD). Journal of neurology, Epub. https://doi.org/10.1007/s00415-024-12538-3

  12. Nunez-Manchon, J., Capó, J., Martinez-Pineiro, A., Juanola, E., Pesovic, J., Mosqueira-Martín, L., González-Imaz, K., Maestre-Mora, P., Odria, R., Savic-Pavicevic, D., Vallejo-Illarramendi, A., Mamchaoui, K., Bigot, A., Mouly, V., Suelves, M., & Nogales-Gadea, G. (2024). Immortalized human myotonic dystrophy type 1 muscle cell lines to address patient heterogeneity. iScience, 27(6), 109930. https://doi.org/10.1016/j.isci.2024.109930

  13. Ellwanger, K., Brill, J. A., de Boer, E., Efthymiou, S., Elgersma, Y., Icmat, M., Lecoquierre, F., Lobato, A. G., Morleo, M., Ori, M., Schaffer, A. E., Vitobello, A., Wells, S., Yalcin, B., Zhai, R. G., Sturm, M., Zurek, B., Graessner, H., Bermejo-Sánchez, E., … Riess, O. (2024). Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe). Lab animal, 53(7). https://doi.org/10.1038/s41684-024-01395-2

  14. Leconte, M., Bonne, G., & Bertrand, A. T. (2024). Recent insights in striated muscle laminopathies. Current opinion in neurology, Epub. https://doi.org/10.1097/WCO.0000000000001297

  15. Decostre, V., De Antonio, M., Servais, L., & Hogrel, J. Y. (2024). Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials. Journal of Neuromuscular Diseases. https://doi.org/10.3233/JND-230182

  16. El Kaim, A., Serra, M., De Noray, H., Lallemant, A., Gobatto, C., Degos, V., Carpentier, A., Riche, M., & Apra, C. (2024). Safety and practicality study of using an exoskeleton in acute neurosurgery patients. Acta neurochirurgica, 166(1). https://doi.org/10.1007/s00701-024-06112-z

  17. Vicart, S., Pereon, Y., Ghorab, K., Pégat, A., Dufresne, R., Zozulya-Weidenfeller, A., Noury, J. B., Nadaj-Pakleza, A., Tard, C., & Sacconi, S. (2024). Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey. Revue neurologique. https://doi.org/10.1016/j.neurol.2024.04.007

  18. Garcia, P., Jarassier, W., Brun, C., Giordani, L., Agostini, F., Kung, W. H., Peccate, C., Ravent, J., Fall, S., Petit, V., Cheung, T. H., Ait-Si-Ali, S., & Le Grand, F. (2024). Setdb1 protects genome integrity in murine muscle stem cells to allow for regenerative myogenesis and inflammation. Developmental cell, Epub. https://doi.org/10.1016/j.devcel.2024.05.012

  19. Mathis, S., Beauvais, D., Duval, F., Sole, G., & Le Masson, G. (2024). The various forms of hereditary motor neuron disorders and their historical descriptions. Journal of neurology. https://doi.org/10.1007/s00415-024-12462-6

  20. Moutachi, D., Hyzewicz, J., Roy, P., Lemaitre, M., Bachasson, D., Amthor, H., Ritvos, O., Li, Z., Furling, D., Agbulut, O., & Ferry, A. (2024). Treadmill running and mechanical overloading improved the strength of the plantaris muscle in the dystrophin-desmin double knockout (DKO) mouse. The Journal of physiology, Epub. https://doi.org/10.1113/JP286425