Publications



1714 documents

  • Paloma Navas-Navarro, Hélène Benyamine, Lucie Vezzana, Aline Huguet-Lachon, Geneviève Gourdon, et al.. Treatment of myotonic dystrophy type 1 with CRISPR/Cas9. SFTCG, Mar 2024, Nantes (France), France. ⟨hal-04541390⟩
  • Amélie Bourhis, Marie Robin, Stéphanie Nguyen, Arnaud Uguen, Patrice Hemon, et al.. Myopathy related to chronic Graft‐Versus‐Host Disease: From clinic to histological & immunological characterization by imaging mass cytometry. American Journal of Hematology, 2024, ⟨10.1002/ajh.27294⟩. ⟨hal-04574048⟩
  • Medhi Hassani, Dylan Moutachi, Mégane Lemaitre, Alexis Boulinguiez, Denis Furling, et al.. Beneficial effects of resistance training on both mild and severe mouse dystrophic muscle function as a preclinical option for Duchenne muscular dystrophy. PLoS ONE, 2024, 19, ⟨10.1371/journal.pone.0295700⟩. ⟨hal-04501283⟩
  • Francesco Galli, Laricia Bragg, Maira Rossi, Daisy Proietti, Laura Perani, et al.. Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy. EMBO Molecular Medicine, 2024, 16 (4), pp.927 - 944. ⟨10.1038/s44321-024-00031-3⟩. ⟨hal-04603972⟩
  • Gisèle Bonne. ERDERA and opportunities for French genetics teams. 3rd Thursday of Clinical Genetics - “2025 France Genomic Medicine Initiative” (PFMG 2025) and the International Context, Feb 2024, Paris, France. ⟨hal-04460541⟩
  • Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, et al.. EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders. Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.66. ⟨10.1186/s13023-024-03059-3⟩. ⟨hal-04460667⟩
  • Sanzana Hoque, Marie Sjögren, Valérie Allamand, Kinga Gawlik, Naomi Franke, et al.. Skeletal muscle regeneration is altered in the R6/2 mouse model of Huntington’s disease. 2024. ⟨hal-04433140⟩
  • Marine Ferrand, Gauthier Giordano, Nathalie Mougenot, Pierre-Léo Laporte, Nicolas Vignier, et al.. Intracardiac electrophysiology to characterize susceptibility to ventricular arrhythmias in murine models. Frontiers in Physiology, 2024, 15, ⟨10.3389/fphys.2024.1326663⟩. ⟨hal-04446798⟩
  • Laura Vanden Brande, Stéphanie Bauché, Laura Pérez-Guàrdia, Damien Sternberg, Andreea Seferian, et al.. Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation. Neuropathology and Applied Neurobiology, 2024, 50 (1), ⟨10.1111/nan.12952⟩. ⟨hal-04409827⟩
  • Paul Dowling, Capucine Trollet, Elisa Negroni, Dieter Swandulla, Kay Ohlendieck. How Can Proteomics Help to Elucidate the Pathophysiological Crosstalk in Muscular Dystrophy and Associated Multi-System Dysfunction?. Proteomes, 2024, 12 (1), pp.4. ⟨10.3390/proteomes12010004⟩. ⟨inserm-04603208⟩

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