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Page 1
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 Jul;194(7):e63531. doi: 10.1002/ajmg.a.63531. Epub 2024 Feb 29. Am J Med Genet A. 2024. PMID: 38421086 Review.
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.
Desguerre I, Barrois R, Audic F, Barnerias C, Chabrol B, Davion JB, Durigneux J, Espil-Taris C, Gomez-Garcia de la Banda M, Guichard M, Isapof A, Nougues MC, Laugel V, Le Goff L, Mercier S, Pervillé A, Richelme C, Thibaud M, Sarret C, Schweitzer C, Testard H, Trommsdorff V, Vanhulle C, Walther-Louvier U, Altuzarra C, Chouchane M, Ropars J, Quijano-Roy S, Cances C. Desguerre I, et al. Among authors: ropars j. Orphanet J Rare Dis. 2024 Sep 13;19(1):344. doi: 10.1186/s13023-024-03326-3. Orphanet J Rare Dis. 2024. PMID: 39272200 Free PMC article.
[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 Free article. French.
Comparison of sedation using pentobarbital or chlorpromazine in pediatric non-invasive imaging procedures: A before and after study.: Comparison of sedation using pentobarbital or chlorpromazine in non-invasive imaging procedures.
Morin E, Xu E, Sacaze E, Legeas O, Ropars J. Morin E, et al. Among authors: ropars j. Arch Pediatr. 2024 Dec 22:S0929-693X(24)00209-4. doi: 10.1016/j.arcped.2024.11.001. Online ahead of print. Arch Pediatr. 2024. PMID: 39718476
Choice of compound, dosage, and management of side effects for long-term corticosteroid treatment in Duchenne muscular dystrophy: Guidelines from the Neuromuscular Commission of the French Society of Pediatric Neurology.
Fontaine Carbonnel S, Dabaj I, de Montferrand C, Rippert P, Laugel V, De Lucia S, Ravelli C, Seferian A, Ropars J, Cances C. Fontaine Carbonnel S, et al. Among authors: ropars j. Arch Pediatr. 2024 Oct;31(7):410-418. doi: 10.1016/j.arcped.2024.05.003. Epub 2024 Sep 27. Arch Pediatr. 2024. PMID: 39332946
A concept for international societally relevant microbiology education and microbiology knowledge promulgation in society.
Timmis K, Hallsworth JE, McGenity TJ, Armstrong R, Colom MF, Karahan ZC, Chavarría M, Bernal P, Boyd ES, Ramos JL, Kaltenpoth M, Pruzzo C, Clarke G, López-Garcia P, Yakimov MM, Perlmutter J, Greening C, Eloe-Fadrosh E, Verstraete W, Nunes OC, Kotsyurbenko O, Nikel PI, Scavone P, Häggblom MM, Lavigne R, Le Roux F, Timmis JK, Parro V, Michán C, García JL, Casadevall A, Payne SM, Frey J, Koren O, Prosser JI, Lahti L, Lal R, Anand S, Sood U, Offre P, Bryce CC, Mswaka AY, Jores J, Kaçar B, Blank LM, Maaßen N, Pope PB, Banciu HL, Armitage J, Lee SY, Wang F, Makhalanyane TP, Gilbert JA, Wood TK, Vasiljevic B, Soberón M, Udaondo Z, Rojo F, Tamang JP, Giraud T, Ropars J, Ezeji T, Müller V, Danbara H, Averhoff B, Sessitsch A, Partida-Martínez LP, Huang W, Molin S, Junier P, Amils R, Wu XL, Ron E, Erten H, de Martinis ECP, Rapoport A, Öpik M, Pokatong WDR, Stairs C, Amoozegar MA, Serna JG. Timmis K, et al. Among authors: ropars j. Microb Biotechnol. 2024 May;17(5):e14456. doi: 10.1111/1751-7915.14456. Microb Biotechnol. 2024. PMID: 38801001 Free PMC article.
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.
70 results