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Page 1
Pathophysiology of cerebral palsy.
Marret S, Vanhulle C, Laquerriere A. Marret S, et al. Among authors: vanhulle c. 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. Among authors: vanhulle c. 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. Among authors: vanhulle c. 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.
Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1.
Ropars J, Cances C, Garcia-Uzquiano R, Gomez-Garcia de la Banda M, Barnerias C, Audic F, Durigneux J, Halbert C, Nkam L, Laugel V, Espil C, Walther-Louvier U, Davion JB, Isapof A, Le Goff L, Desguerre I, Quijano-Roy S, Grimaldi L; French SMA Registry Study Group. Ropars J, et al. JAMA Netw Open. 2025 Oct 1;8(10):e2536348. doi: 10.1001/jamanetworkopen.2025.36348. JAMA Netw Open. 2025. PMID: 41060652 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. Among authors: vanhulle c. 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. Among authors: vanhulle c. Cloning Stem Cells. 2004;6(2):140-9. doi: 10.1089/1536230041372454. Cloning Stem Cells. 2004. PMID: 15268788 Review.
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
Guasto A, Dubail J, Aguilera-Albesa S, Paganini C, Vanhulle C, Haouari W, Gorría-Redondo N, Aznal-Sainz E, Boddaert N, Planas-Serra L, Schlüter A, Vélez-Santamaría V, Verdura E, Bruneel A, Rossi A, Huber C, Pujol A, Cormier-Daire V. Guasto A, et al. Among authors: vanhulle c. Brain. 2022 Oct 21;145(10):3711-3722. doi: 10.1093/brain/awac110. Brain. 2022. PMID: 35325049
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. Among authors: vanhulle c. 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
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.
Benkirane M, Marelli C, Choumert A, Goizet C, Patat O, Ewenczyk C, Anheim M, Mégarbané A, Larrieu L, Charlin C, Ory-Magne F, Chaussenot A, Fradin M, Guissart C, Pointaux M, Cossée M, Vincent MC, Bergougnoux A, Hersent C, Bareil C, Roubertie A, Fluchère F, Renaud M, Kremer L, Tranchant C, Attarian S, Odent S, Laugel V, Walther-Louvier U, Desnous B, Bieth E, Husson I, Azulay JP; INTREP-AF consortium; Rivier F, Doray B, Durr A, Aouinti S, Molinari N, Koenig M. Benkirane M, et al. Genet Med. 2025 Sep 23;27(12):101588. doi: 10.1016/j.gim.2025.101588. Online ahead of print. Genet Med. 2025. PMID: 41014100
56 results