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Page 1
Pathophysiology of cerebral palsy.
Marret S, Vanhulle C, Laquerriere A. Marret S, et al. Handb Clin Neurol. 2013;111:169-76. doi: 10.1016/B978-0-444-52891-9.00016-6. Handb Clin Neurol. 2013. PMID: 23622161 Review.
Human TMEFF1 is a restriction factor for herpes simplex virus in the brain.
Chan YH, Liu Z, Bastard P, Khobrekar N, Hutchison KM, Yamazaki Y, Fan Q, Matuozzo D, Harschnitz O, Kerrouche N, Nakajima K, Amin P, Yatim A, Rinchai D, Chen J, Zhang P, Ciceri G, Chen J, Dobbs K, Belkaya S, Lee D, Gervais A, Aydın K, Kartal A, Hasek ML, Zhao S, Reino EG, Lee YS, Seeleuthner Y, Chaldebas M, Bailey R, Vanhulle C, Lorenzo L, Boucherit S, Rozenberg F, Marr N, Mogensen TH, Aubart M, Cobat A, Dulac O, Emiroglu M, Paludan SR, Abel L, Notarangelo L, Longnecker R, Smith G, Studer L, Casanova JL, Zhang SY. Chan YH, et al. Nature. 2024 Aug;632(8024):390-400. doi: 10.1038/s41586-024-07745-x. Epub 2024 Jul 24. Nature. 2024. PMID: 39048830 Free PMC article.
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. 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.
Fetal and neonatal cerebral infarcts.
Marret S, Lardennois C, Mercier A, Radi S, Michel C, Vanhulle C, Charollais A, Gressens P. Marret S, et al. Biol Neonate. 2001;79(3-4):236-40. doi: 10.1159/000047098. Biol Neonate. 2001. PMID: 11275658 Review.
Gene activation and gene silencing: a subtle equilibrium.
Quivy V, Calomme C, Dekoninck A, Demonte D, Bex F, Lamsoul I, Vanhulle C, Burny A, Van Lint C. Quivy V, et al. Cloning Stem Cells. 2004;6(2):140-9. doi: 10.1089/1536230041372454. Cloning Stem Cells. 2004. PMID: 15268788 Review.
Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population: Registre SMA France.
Gerin L, Ropars J, Garcia-Uzquiano R, Gómez-García De la Banda M, Saugier-Veber P, Desguerre I, Salort-Campana E, Espil C, Barnerias C, Laugel V, Cances C, Audic F, Cintas P, Le Goff L, Mallaret M, Nouguès MC, Drunat S, Tard C, Grimaldi L, Quijano-Roy S; R-SMA Study Group (FILNEMUS). Gerin L, et al. Neurol Genet. 2025 Apr 1;11(2):e200222. doi: 10.1212/NXG.0000000000200222. eCollection 2025 Apr. Neurol Genet. 2025. PMID: 40212804 Free PMC article.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A, Sudrié-Arnaud B, Dabaj I, Torre S, Domitille L, Snanoudj S, Heron B, Levade T, Caillaud C, Vergnaud S, Saugier-Veber P, Coutant S, Dranguet H, Froissart R, Al Khouri M, Alembik Y, Baruteau J, Arnoux JB, Brassier A, Brehin AC, Busa T, Cano A, Chabrol B, Coubes C, Desguerre I, Doco-Fenzy M, Drenou B, Elcioglu NH, Elsayed S, Fouilhoux A, Poirsier C, Goldenberg A, Jouvencel P, Kuster A, Labarthe F, Lazaro L, Pichard S, Rivera S, Roche S, Roggerone S, Roubertie A, Sigaudy S, Spodenkiewicz M, Tardieu M, Vanhulle C, Marret S, Bekri S. Tebani A, et al. J Med Genet. 2022 Apr;59(4):377-384. doi: 10.1136/jmedgenet-2020-107510. Epub 2021 Mar 18. J Med Genet. 2022. PMID: 33737400
55 results