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Page 1
Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.
Baer S, Schalk A, Miguet M, Schaefer É, El Chehadeh S, Ginglinger E, de Saint Martin A, Abi Wardé MT, Laugel V, de Feraudy Y, Gauer L, Hirsch E, Boulay C, Bansept C, Bolocan A, Kitadinis I, Gouronc A, Gérard B, Piton A, Scheidecker S. Baer S, et al. Among authors: laugel v. Pediatr Neurol. 2024 Oct;159:16-25. doi: 10.1016/j.pediatrneurol.2024.07.007. Epub 2024 Jul 15. Pediatr Neurol. 2024. PMID: 39094250
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.
Rajamani G, Stafki SA, Daugherty AL, Mantyh WG, Littel HR, Bruels CC, Pacak CA, Robbins PD, Niedernhofer LJ, Abiona A, Giunti P, Mohammed S, Laugel V, Kang PB. Rajamani G, et al. Among authors: laugel v. Neurol Clin Pract. 2024 Aug;14(4):e200309. doi: 10.1212/CPJ.0000000000200309. Epub 2024 May 16. Neurol Clin Pract. 2024. PMID: 38808024
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: laugel v. 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
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: laugel v. 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.
Cockayne Syndrome.
Laugel V. Laugel V. 2000 Dec 28 [updated 2024 Aug 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Dec 28 [updated 2024 Aug 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301516 Free Books & Documents. Review.
[Expand neonatal screening].
Lacombe D, Cottet C, Laugel V. Lacombe D, et al. Among authors: laugel v. Rev Prat. 2023 Dec;73(10):1047. Rev Prat. 2023. PMID: 38294462 French. No abstract available.
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: laugel v. 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
Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv).
Wallach E, Ehlinger V, Biotteau M, Walther-Louvier U, Péréon Y, Vuillerot C, Fontaine S, Sabouraud P, Espil-Taris C, Cuisset JM, Laugel V, Baudou E, Arnaud C, Cances C. Wallach E, et al. Among authors: laugel v. BMC Pediatr. 2023 Nov 15;23(1):563. doi: 10.1186/s12887-023-04153-4. BMC Pediatr. 2023. PMID: 37968589 Free PMC article.
Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Henzi BC, Schmidt S, Nagy S, Rubino-Nacht D, Schaedelin S, Putananickal N, Stimpson G; North Star Consortium; Amthor H, Childs AM, Deconinck N, de Groot I, Horrocks I, Houwen-van Opstal S, Laugel V, Lopez Lobato M, Madruga Garrido M, Nascimento Osorio A, Schara-Schmidt U, Spinty S, von Moers A, Lawrence F, Hafner P, Dorchies OM, Fischer D. Henzi BC, et al. Among authors: laugel v. Lancet Neurol. 2023 Oct;22(10):890-899. doi: 10.1016/S1474-4422(23)00285-5. Lancet Neurol. 2023. PMID: 37739572 Clinical Trial.
120 results