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Last submissions
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Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno CADOT, John Rendu, et al.. Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies. Acta Neuropathologica Communications, 2022, 10 (1), pp.101. ⟨10.1186/s40478-022-01400-0⟩. ⟨hal-03820052⟩
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Diana Esteller, Marianela Schiava, Rocío Nur Villar-Quiles, Boris Dibowski, Nadia Venturelli, et al.. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis. Journal of Neurology, In press, ⟨10.1007/s00415-023-11862-4⟩. ⟨hal-04195135⟩
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Édouard Berling, Camille Verebi, Nadia Venturelli, Stéphane Vassilopoulos, Anthony Béhin, et al.. Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort. European Journal of Neurology, 2023, 30 (8), pp.2506-2517. ⟨10.1111/ene.15832⟩. ⟨hal-04190879⟩
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Marion Masingue, Olivia Cattaneo, Nicolas Wolff, Céline Buon, Damien Sternberg, et al.. New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome. Scientific Reports, 2023, 13 (1), pp.14054. ⟨10.1038/s41598-023-41008-5⟩. ⟨hal-04191765⟩
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Charlotte Fenioux, Yves Allenbach, Aurore Vozy, Joe-Élie Salem, Georgina Maalouf, et al.. Comparaison des caractéristiques et des pronostics des patients avec et sans cancer actif hospitalisés pour une infection à SARS-CoV-2. Bulletin du Cancer, 2021, 108 (6), pp.581-588. ⟨10.1016/j.bulcan.2021.03.004⟩. ⟨hal-03830953⟩
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Valentina Taglietti, Kaouthar Kefi, Lea Rivera, Oriane Bergiers, Nastasia Cardone, et al.. Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophy. Science Translational Medicine, 2023, 15 (685), ⟨10.1126/scitranslmed.add5275⟩. ⟨hal-04150315⟩
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Dylan Moutachi, Mégane Lemaitre, Clément Delacroix, Onnik Agbulut, Denis Furling, et al.. Valproic acid reduces muscle susceptibility to contraction‐induced functional loss but increases weakness in two murine models of Duchenne muscular dystrophy. Clinical and Experimental Pharmacology and Physiology, In press, ⟨10.1111/1440-1681.13804⟩. ⟨hal-04146953⟩
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A. Morin, Amalia Stantzou, Olga N. Petrova, John C.W. Hildyard, T. Tensorer, et al.. Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle. Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (2), ⟨10.1073/pnas.2206324120⟩. ⟨hal-04122777⟩
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Malika Foy, Philippe de Mazancourt, Corinne Métay, Robert Carlier, Valérie Allamand, et al.. A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1 ‐related overlap disorder. Clinical Case Reports, 2021, 9 (9), ⟨10.1002/ccr3.4128⟩. ⟨hal-04074072⟩
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Pierre Bay, Marc Pineton de Chambrun, Vincent Rothstein, Matthieu Mahevas, Nicolas de Prost, et al.. Plasma exchange are not associated with better outcome in MDA5 rapidly-progressive interstitial lung disease. French Intensive Care Society International Congress 2022, 2022, paris, France. pp.54, ⟨10.1186/s13613-022-01016-6⟩. ⟨hal-03831253⟩
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