Dernières publications

Le Guiner, C., Larcher, T., Lafoux, A., Toumaniantz, G., Webb, S., Gourdon, G., Moullier, P., Votteler, J., Hammond, S., & Tretiakova, A. (2023). Characterization of the Muscular and Cardiac Diseases of the DMSXL Mouse Model, a Transgenic Mouse Model for Myotonic Dystrophy Type 1. Molecular therapy, 31(4), 452. https://doi.org/10.1016/j.ymthe.2023.04.017

Pfirrmann, T., Franco, B., Kopinke, D., & Gerhardt, C. (2023). Editorial: Regulation of proteostasis and cellular energy homeostasis at the primary cilium. Frontiers in cell and developmental biology, 11. https://doi.org/10.3389/fcell.2023.1285237

Mazurkiewicz-Bełdzińska, M., Servais, L., Baranello, G., Boespflug-Tanguy, O., Day, J. W., Deconinck, N. P., Klein, A., Masson, R., Mercuri, E. M., Rose, K. J., Vlodavets, D. V., Xiong, H., Zanoteli, E., El-Khairi, M., Gaki, E., Kuthiala, M., Gorni, K., Kletzl, H., Palfreeman, L., & Darras, B. T. (2026). Efficacy and safety of risdiplam in patients with type 1 spinal muscular atrophy: a 3-year open-label extension of the two-part, phase 2 FIREFISH trial. The Lancet. Child & adolescent health, Epub. https://doi.org/10.1016/S2352-4642(26)00126-4

Vezain, M., Thauvin-Robinet, C., Vial, Y., Coutant, S., Drunat, S., Urtizberea, J. A., Rolland, A., Nicolas, G., Lecoquierre, F., & Saugier-Veber, P. (2023). EP11.007 : Retrotransposon insertion as a novel mutational event in spinal muscular atrophy. European journal of human genetics, 31, 211. https://doi.org/10.1038/s41431-023-01339-3

Quartesan, I., Vegezzi, E., Currò, R., Heslegrave, A., Pisciotta, C., Salvalaggio, A., Fernandez-Eulate, G., Agudo, P., Tassorelli, C., Salsano, E., Andreetta, F., Giunti, P., Stojkovic, T., Briani, C., Pareyson, D., Zetterberg, H., Reilly, M., Houlden, H., & Cortese, A. (2023). EPO 539 : Plasma neurofilament light chain concentration in RFC1-Related Disease: a multicentre cross-sectional study. European journal of neurology, 30, 660. https://doi.org/10.1111/ene.15950

Mahoudeau, A., Anquetil, C., Tawara, N., Kha-Demian, H., Amelin, D., Maillard, S., Bolko, L., Silvestro, M., Allenbach, Y., & Benveniste, O. (2023). Myostatin in idiopathic inflammatory myopathies: Serum assessment and disease activity. Clinical and experimental rheumatology, 41(2), 452.

Reintjes, W., Knuijt, S., Oelbrandt, F., Hastings, R. N., Evangelista, T., Tasca, G., Warman Chardon, J., & Voermans, N. (2026). Oculopharyngeal muscular dystrophy: diagnosis, management and multisystem care. Practical Neurology. https://doi.org/10.1136/pn-2026-005241

Quartesan, I., Vegezzi, E., Currò, R., Heslegrave, A., Pisciotta, C., Salvalaggio, A., Fernandez-Eulate, G., Agudo, P., Tassorelli, C., Salsano, E., Andreetta, F., Giunti, P., de Munain, A., Stojkovic, T., Briani, C., Pareyson, D., Zetterberg, H., Reilly, M., Houlden, H., & Cortese, A. (2023). Plasma neurofilament light chain concentration in rfc1-related disease:a multicentre cross- sectional study. Journal of the peripheral nervous system. https://doi.org/10.1111/jns.12585

Muraine, L., Bensalah, M., Gargan, S., Dowling, P., Bigot, A., Allamand, V., Dhiab, J., Kondili, M., Perie, S., Lacau St-Guily, J., Butler-Browne, G., Mouly, V., Ohlendieck, K., Trollet, C., & Negroni, E. (2026). Publisher Correction: Collagen VI is a fibrosis-associated signal disrupting muscle regeneration across distinct human myopathies. EMBO reports, Epub. https://doi.org/10.1038/s44319-026-00857-7

Trad, G., Lenglet, T., Ledoux, I., Querin, G., Blancho, S., Marchand-Pauvert, V., Hogrel, J. Y., & Pradat, P. F. (2026). Safety, feasibility and preliminary effects of Atalante exoskeleton-assisted gait training in amyotrophic lateral sclerosis: a prospective ABA pilot study. Journal of neuroengineering and rehabilitation. https://doi.org/10.1186/s12984-026-02046-y

Vincent-Genod, D., Rippert, P., Coton, J., Le Goff, L., Barrière, A., Berruyer, A., Bernard, M., Garde, C., Gutierrez-Garcia, M., Gilabert, S., Gomes-Lisboade-Souza, A., Daron, A., Servais, L., Thomann, G., & Vuillerot, C. (2023). Scoring People With Spinal Muscular Atrophy on the Motor Function Measure Using the Microsoft Kinect. Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association, 35(1), 36-41. https://doi.org/10.1097/PEP.0000000000000968

Servais, L., Oskoui, M., Day, J., Deconinck, N., Mazzone, E., Nascimento, A., Saito, K., Vuillerot, C., Baranello, G., Boespflug-Tanguy, O., Goemans, N., Kirschner, J., Kostera-Pruszczyk, A., Braid, J., Papp, G., Gorni, K., Martin, C., Scalco, R., Yeung, W. Y., & Mercuri, E. (2023). SUNFISH Parts 1 and 2: 4-year Efficacy and Safety Data of Risdiplam in Types 2 and 3 Spinal Muscular Atrophy (SMA) (S34.009). Neurology. https://doi.org/10.1212/WNL.0000000000203570

Suarez, C. A., Pittman, S. K., Inoue, M., Lynch, E. M., Moran, A., Merlet, A. N., Lacenne, E., Evangelista, T., & Weihl, C. C. (2026). VMA21 deficiency leads to autophagic dysregulation and altered vesicle trafficking in X-linked myopathy with excessive autophagy. Acta neuropathologica, 151(1). https://doi.org/10.1007/s00401-026-03044-z

Vadrot, N., Ader, F., Moulin, M., Merlant, M., Chapon, F., Gandjbakhch, E., Labombarda, F., Maragnes, P., Réant, P., Rooryck, C., Probst, V., Donal, E., Richard, P., Ferreiro, A., & Buendia, B. (2023). Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies. Cells, 12(2). https://doi.org/10.3390/cells12020337

Morin, A., Stantzou, A., Petrova, O. N., Hildyard, J., Tensorer, T., Matouk, M., Petkova, M. V., Richard, I., Manoliu, T., Goyenvalle, A., Falcone, S., Schuelke, M., Laplace-Builhe, C., Piercy, R. J., Garcia, L., & Amthor, H. (2023). Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle. Proceedings of the national Academy of sciences of the United States of America, 120(2), e2206324120. https://doi.org/10.1073/pnas.2206324120

Berling, E., Prigent, H., Montagu, G., Barrière, A., Basquin, M., Besset, L., Bonnyaud, C., Boyer, F., Cintas, P., Com, M., Combier, M., Gargiulo, M., Hogrel, J., Le Goff, L., Li, D., Sekou, G., Orlikowski, D., Pouplin, S., Pruvot, A., … Laforet, P. (2023). EPO 198 – Priorities of SMA adult patients and theirHCPs toward evaluation. First results of aFrench qualitative study. European journal of neurology, 30, 447. https://doi.org/10.1111/ene.15950

Behin, A., Gwathmey, K., Broome, C., Goebeler, M., Murai, H., Bata-Csorgo, Z., Newland, A., Ulrichts, P., Kerstens, R., Guptill, J., Agha, S., Jiang, M., & Howard, J. (2023). EPR 128 – Safety Profile Overview of Efgartigimod Clinical Trials in Participants With Diverse IgG-Mediated Autoimmune Diseases. European journal of neurology, 30, 204. https://doi.org/10.1111/ene.15949

Golini, E., Rigamonti, M., Raspa, M., Scavizzi, F., Falcone, G., Gourdon, G., & Mandillo, S. (2023). Excessive rest time during active phase is reliably detected in a mouse model of myotonic dystrophy type 1 using home cage monitoring. Frontiers in behavioral neuroscience, 17. https://doi.org/10.3389/fnbeh.2023.1130055

Darras, B., Baranello, G., Boespflug-Tanguy, O., Day, J., Deconinck, N., Klein, A., Masson, R., Mazurkiewicz-Beldzinska, M., Mercuri, E., Rose, K., Vlodavets, D., Xiong, H., Zanoteli, E., El-Khairi, M., Gerber, M., Gorni, K., Kletzl, H., Palfreeman, L., Dodman, A., & Servais, L. (2023). FIREFISH Parts 1 and 2: 36-month safety and efficacy of risdiplam in Type 1 spinal muscular atrophy (SMA) (P7-9.009). Neurology, 100(17). https://doi.org/10.1212/WNL.0000000000203624

Tasca, F., Brescia, M., Liu, J., Janssen, J. M., Mamchaoui, K., & Gonçalves, M. A. F. V. (2023). High-capacity adenovector delivery of forced CRISPR-Cas9 heterodimers fosters precise chromosomal deletions in human cells. Molecular therapy. Nucleic acids, 31, 746. https://doi.org/10.1016/j.omtn.2023.02.025