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[The Schwartz-Jampel syndrome].
Urtizberea JA, Severa G, Ropars J, Malfatti E. Urtizberea JA, et al. Among authors: ropars j. Med Sci (Paris). 2023 Nov;39 Hors série n° 1:37-46. doi: 10.1051/medsci/2023133. Epub 2023 Nov 17. Med Sci (Paris). 2023. PMID: 37975769 French.
3q29 duplications: A cohort of 46 patients and a literature review.
Massier M, Doco-Fenzy M, Egloff M, Le Guillou X, Le Guyader G, Redon S, Benech C, Le Millier K, Uguen K, Ropars J, Sacaze E, Audebert-Bellanger S, Apetrei A, Molin A, Gruchy N, Vincent-Devulder A, Spodenkiewicz M, Jacquin C, Loron G, Thibaud M, Delplancq G, Brisset S, Lesieur-Sebellin M, Malan V, Romana S, Rio M, Marlin S, Amiel J, Marquet V, Dauriat B, Moradkhani K, Mercier S, Isidor B, Arpin S, Pujalte M, Jedraszak G, Pebrel-Richard C, Salaun G, Laffargue F, Boudjarane J, Missirian C, Chelloug N, Toutain A, Chiesa J, Keren B, Mignot C, Gouy E, Jaillard S, Landais E, Poirsier C. Massier M, et al. Among authors: ropars j. Am J Med Genet A. 2024 Feb 29:e63531. doi: 10.1002/ajmg.a.63531. Online ahead of print. Am J Med Genet A. 2024. PMID: 38421086
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type.
Audic F, Dubois SM, Durigneux J, Barnerias C, Isapof A, Nougues MC, Davion JB, Richelme C, Vuillerot C, Legoff L, Sabouraud P, Cances C, Laugel V, Ropars J, Espil-Taris C, Trommsdorff V, Pervillé A, Garcia-de-la-Banda MG, Testard H, Chouchane M, Walther-Louvier U, Schweizer C, Halbert C, Badri M, Quijano-Roy S, Chabrol B, Desguerre I. Audic F, et al. Among authors: ropars j. Arch Pediatr. 2024 Feb;31(2):117-123. doi: 10.1016/j.arcped.2023.10.009. Epub 2023 Dec 21. Arch Pediatr. 2024. PMID: 38135619
Domestication in dry-cured meat Penicillium fungi: Convergent specific phenotypes and horizontal gene transfers without strong genetic subdivision.
Lo YC, Bruxaux J, Rodríguez de la Vega RC, O'Donnell S, Snirc A, Coton M, Le Piver M, Le Prieur S, Roueyre D, Dupont J, Houbraken J, Debuchy R, Ropars J, Giraud T, Branca A. Lo YC, et al. Among authors: ropars j. Evol Appl. 2023 Sep 8;16(9):1637-1660. doi: 10.1111/eva.13591. eCollection 2023 Sep. Evol Appl. 2023. PMID: 37752962 Free PMC article.
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, Pichard S, Brassier A, Schiff M, Feillet F, Rollier P, Mention K, Dobbelaere D, Fouilhoux A, Espil-Taris C, Eyer D, Huet F, Walther-Louvier U, Barth M, Chevret L, Kuster A, Lefranc J, Neveu J, Pitelet G, Ropars J, Rivier F, Roubertie A, Touati G, Vanhulle C, Tardieu E, Caillaud C, Froissart R, Champeaux M, Labarthe F, Chabrol B. Tardieu M, et al. Among authors: ropars j. Eur J Neurol. 2023 Sep;30(9):2828-2837. doi: 10.1111/ene.15894. Epub 2023 Jun 10. Eur J Neurol. 2023. PMID: 37235686 Free article.
Evolutionary ecology of human-associated microbes.
Giraud T, Ropars J, Stukenbrock EH, Amato KR, Rodriguez de la Vega R. Giraud T, et al. Among authors: ropars j. Mol Ecol. 2023 May;32(10):2369-2373. doi: 10.1111/mec.16966. Epub 2023 Apr 28. Mol Ecol. 2023. PMID: 37114833 No abstract available.
64 results