1698 documents
- 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⟩
- 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⟩
- 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⟩
- José A Villegas, Jérôme van Wassenhove, Judith Merrheim, Karen Matta, Samy Hamadache, et al.. Blocking interleukin-23 ameliorates neuromuscular and thymic defects in myasthenia gravis. Journal of Neuroinflammation, 2023, 20 (1), pp.9. ⟨10.1186/s12974-023-02691-3⟩. ⟨hal-03972909⟩
- Valérie Allamand, Soledad Monges, Corine Gartioux, Taratuto Ana Lia, Alix De Becdelièvre, et al.. A complex COL6A3 mutation identification: it takes an international village. Collagen VI International Research Summit, Fundacion Noelia, Nov 2023, San Sebastian, Spain. ⟨hal-04475082⟩
- Kourtzas D, Rocio Nur Villar Quiles, Gartioux C, Allamand V. ECM characterization in novel cellular models for COL6-RD. Collagen VI International Research Summit, Fundacion Noelia, Nov 2023, San Sebastian, Spain. ⟨hal-04475051⟩
- Camille Morel, Eline Lemerle, Feng-Ching Tsai, Thomas Obadia, Nishit Srivastava, et al.. Caveolin-1 protects endothelial cells from extensive expansion of transcellular tunnel by stiffening the plasma membrane. eLife, In press, ⟨10.7554/eLife.92078.1⟩. ⟨pasteur-04364908v2⟩
Documents récupérés de l'archive ouverte HAL 