1720 documents
- 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⟩
- Charlotte Fenioux, Baptiste Abbar, Samia Boussouar, Marie Bretagne, John Power, et al.. Publisher Correction: Thymus alterations and susceptibility to immune checkpoint inhibitor myocarditis. Nature Medicine, 2024, ⟨10.1038/s41591-023-02771-0⟩. ⟨hal-04414859⟩
- Louise Benarroch, Gisèle Bonne, Francois Rivier, Dalil Hamroun. The 2024 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscular Disorders, 2024, 34, pp.126 - 170. ⟨10.1016/j.nmd.2023.12.007⟩. ⟨hal-04423642⟩
- Corentin Meyer, Norma Romero, Teresinha Evangelista, Brunot Cadot, Jocelyn Laporte, et al.. IMPatienT: an Integrated web application to digitize, process and explore Multimodal PATIENt daTa. Journal of Neuromuscular Diseases, 2024, Online ahead of print. ⟨10.3233/JND-230085⟩. ⟨hal-03635350v3⟩
- Hubert Smeets, Bram Verbrugge, Xavier Bulbena, Liliya Hristova, Julia Vogt, et al.. European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17–19, 2023, Barcelona, Spain. LAMA2-muscular dystrophy: paving the road to therapy, Neuromuscular Disorders, 36, pp.16 - 22, 2024, ⟨10.1016/j.nmd.2024.01.001⟩. ⟨hal-04546346⟩
- Cyprien Denoeud, Guotian Luo, Joseph Paquet, Julie Boisselier, Pauline Wosinski, et al.. Enzyme-controlled, nutritive hydrogel for mesenchymal stromal cell survival and paracrine functions. Communications Biology, 2023, 6 (1), pp.1266. ⟨10.1038/s42003-023-05643-y⟩. ⟨hal-04442110⟩
- Gisèle Bonne. Comment résoudre les impasses diagnostiques des maladies rares : partage systématique des données paneuropéennes et analyse collaborative : le projet Solve-RD. Journée thématique sur l'errance et l'impasse diagnostiques - Filière Filnemus, Filnemus, Dec 2023, Paris, France. ⟨hal-04319087⟩
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