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. White, Z., Rufibach, L., Dressman, H. G., Hilsden, H., Cox, D., Spuler, S., 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., Bravver, E., Diaz-Manera, J., Pegoraro, E., Mendell, J. R., … Bernatchez, P. (2025). High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2. Journal of cachexia, sarcopenia and muscle, 16(4). https://doi.org/10.1002/jcsm.70042

  2. Vergnol, A., Bourguiba, A., Bauche, S., Traoré, M., Gelin, M., Gentil, C., Pezet, S., Saillard, L., Meunier, P., Lemaitre, M., Perronnet, J., Tores, F., Gautier, C., Guesmia, Z., Allemand, E., Batsché, E., Pietri-Rouxel, F., & Falcone, S. (2025). Identification of CaVβ1 Isoforms Required for Neuromuscular Junction Formation and Maintenance. Cells, 14(15). https://doi.org/10.3390/cells14151210

  3. Wang, Y. X., Palla, A. R., Ho, A. T. V., Robinson, D. C. L., Ravichandran, M., Markov, G. J., Mai, T., Still, C., Balsubramani, A., Nair, S., Holbrook, C. A., Yang, A. V., Kraft, P. E., Su, S., Burns, D. M., Yucel, N. D., Qi, L. S., Kundaje, A., & Blau, H. M. (2025). Multiomic profiling reveals that prostaglandin E2 reverses aged muscle stem cell dysfunction, leading to increased regeneration and strength. Cell stem cell, 32(7). https://doi.org/10.1016/j.stem.2025.05.012

  4. Jaubert, P., Loret, C., Stojkovic, T., Attarian, S., Bonello-Palot, N., Bouhour, F., Camdessanché, J. P., Cassereau, J., Chanson, J. B., Cintas, P., Creange, A., Esselin, F., Genestet, S., Giordano, S., Gitiaux, C., Guillaud-Bataille, M., Isapof, A., Kumaran, D., Labeyrie, C., … Echaniz-Laguna, A. (2025). Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy. European journal of neurology, 32(8). https://doi.org/10.1111/ene.70313

  5. Chouery, E., Mehawej, C., Youssef, S., Sfeir, Y., Corbani, S., Korban, R., Leturcq, F., Urtizberea, J. A., & Mégarbané, A. (2025). Recurrent nonsense p.Trp3416 variant in the DMD gene identified in healthy Lebanese individuals: Implications for variant classification and genotype-phenotype correlations. Journal of Neuromuscular Diseases, Epub. https://doi.org/10.1177/22143602251369639

  6. Iammarino, M. A., Alonso-Perez, J., Stojkovic, T., Pegoraro, E., Lowes, L., & Diaz-Manera, J. (2025). 282nd ENMC international workshop – standards of diagnosis and care for the sarcoglycanopathies. 8-10 November 2024, Amsterdam, Netherlands. Neuromuscular disorders : NMD, 54(Epub). https://doi.org/10.1016/j.nmd.2025.106212

  7. Timp, L., Franken, M., Goncalves, M., Goyenvalle, A., Bigot, A., Mouly, V., Pijnappel, P., de Greef, J., van der Maarel, S., Niks, E., Goossens, R., & Aartsma Rus, A. (2025). 287P3D tissue engineered skeletal muscle to model dystrophinopathies and determine the efficacy of exon skip therapies. Neuromuscular disorders : NMD, 53. https://doi.org/10.1016/j.nmd.2025.105921

  8. Dumas, R., Jannot, A. S., Elarouci, N., Salort-Campana, E., Pisella, L., Tard, C., Sacconi, S., Bouhour, F., Sarrazin, E., Spinazzi, M., Laforet, P., Pereon, Y., Nadaj-Pakleza, A., Echaniz-Laguna, A., Choumert, A., Magy, L., Féasson, L., Esselin, F., Cances, C., … Attarian, S. (2025). Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR). European journal of neurology, 32(9), e70347. https://doi.org/10.1111/ene.70347

  9. Medjmedj, A., Genon, H., Hezili, D., Loth, A. N., Clemençon, R., Guimpied, C., Mollet, L., Bigot, A., Wien, F., Hamacek, J., Chapat, C., & Perche, F. (2025). Evaluation of synthetic mRNA with selected UTR sequences and alternative poly(A) tail, in vitro and in vivo. Molecular therapy. Nucleic acids, 36(3), 102648. https://doi.org/10.1016/j.omtn.2025.102648

  10. Giordano, G., Proukhnitzky, J., Fer, F., Bloch, A., Thuillot, M., Maupain, C., Magnin-Poull, I., Jonveaux, I., Palmyre, A., Bertinotti, A., Mansencal, N., de Chillou, C., Richard, P., Gandjbakhch, E., & Charron, P. (2025). Family history of sudden cardiac death as a risk marker for ventricular arrhythmias in laminopathies. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, 27(9). https://doi.org/10.1093/europace/euaf202

  11. Fernandez-Eulate, G., Banal, C., Renault, S., Lefort, N., & Nadjar, Y. (2025). Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis). Stem cell research, 87. https://doi.org/10.1016/j.scr.2025.103801

  12. Bhaskaran, A., Ben Yaou, R., Helms, A. S., Fayssoil, A., Richard, P., Stojkovic, T., Anselme, F., Labombarda, F., Chikhaoui, C., de Sandre-Giovannoli, A., Jeru, I., Leturcq, F., Vigouroux, C., Dembélé, M., Elliott, P., Savvatis, K., Zeppenfeld, K., Bouguerra, H., Charron, P., … Lakdawala, N. K. (2025). Location of LMNA Variants and Clinical Outcomes in Cardiomyopathy. JAMA cardiology, 10(9), 896. https://doi.org/10.1001/jamacardio.2025.2069

  13. Mandia, D., Benoit, C., Stojkovic, T., & Nadjar, Y. (2025). Motor Neuropathy in a Patient With Mitochondrial Disease and a Novel TTC19 Variant: An Underrecognized Phenotypic Feature. Journal of the peripheral nervous system : JPNS, 30(3). https://doi.org/10.1111/jns.70060

  14. Neil, J., Fenaille, F., Bruneel, A., Stojkovic, T., Cholet, S., Delmont, E., Ober, P., Raynor, A., Amiot, Q., Dorgham, K., Viala, K., Ghillani-Dalbin, P., Gorochov, G., & Sterlin, D. (2025). N-Glycan-Dependent Proinflammatory Effects of IgM in Anti-MAG Neuropathy. Neurology(R) neuroimmunology & neuroinflammation, 12(5), e200440. https://doi.org/10.1212/NXI.0000000000200440

  15. Crawford, T. O., Servais, L., Mercuri, E., Kolbel, H., Kuntz, N., Finkel, R. S., Krueger, J., Batley, K., Young, S. D., Marantz, J. L., Song, G., Yao, B., Zhao, G., Rossello, J., Tirucherai, G. S., Mazzone, E. S., Butterfield, R. J., De la Banda, M. G. G., Seferian, A. M., … Darras, B. T. (2025). Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial. The Lancet. Neurology, 24(9), 727. https://doi.org/10.1016/S1474-4422(25)00225-X

  16. He, M., Ding, M., Chocholouskova, M., Chin, C. F., Engvall, M., Malmgren, H., Wagner, M., Lauffer, M. C., Heisinger, J., Malicdan, M. C. V., Allamand, V., Durbeej, M., Delgado Vega, A., Sejersen, T., Nordgren, A., Torta, F., & Silver, D. L. (2025). SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis. The Journal of clinical investigation, 135(17). https://doi.org/10.1172/JCI193099

  17. Pozzi, S., Sweere, D. J. J., Trucco, F., Johnson, N. E., & Sansone, V. A. (2025). 284th ENMC International Workshop: Cognitive and behavioral abnormalities in pediatric DM1; what should we measure in preparation for clinical trials? Hoofddorp, The Netherlands, January 24-26 2025. Neuromuscular disorders : NMD, 56-57, 106252. https://doi.org/10.1016/j.nmd.2025.106252

  18. Scholten, S., Peterson, J. A. M., Orriëns, L. B., Pastorelli, L., Meola, G., Schoser, B., & Braakman, H. M. H. (2025). 288th ENMC International Workshop. Towards better diagnosing, understanding and treating gastrointestinal symptoms in myotonic dystrophy: extended insights and practical recommendations. 16-18 May 2025, Hoofddorp, the Netherlands. Neuromuscular disorders : NMD. https://doi.org/10.1016/j.nmd.2025.106250

  19. Staedler, K., Nectoux, J., Metay, C., Lermine, A., Villar-Quiles, R. N., Evangelista, T., Labasse, C., Lacene, E., & Stojkovic, T. (2025). A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance. Journal of Neuromuscular Diseases. https://doi.org/10.1177/22143602251352986

  20. de Vera, A., Clemens, P. R., Dang, U. J., Dutreix, C., Gresko, E., Guglieri, M., Hagerty, L., Hasham, S., Damsker, J., Hathout, Y., Linden, A., Berglund, A., Tobin, R., Wahbi, K., & Hoffman, E. P. (2025). Mineralocorticoid receptor antagonism of vamorolone: Evidence from LIONHEART and VISION-DMD clinical trials. Steroids, 223. https://doi.org/10.1016/j.steroids.2025.109689