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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.
Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.
Marguet F, Laquerrière A, Goldenberg A, Guerrot AM, Quenez O, Flahaut P, Vanhulle C, Dumant-Forest C, Charbonnier F, Vezain M, Bekri S, Tournier I, Frébourg T, Nicolas G. Marguet F, et al. Among authors: vanhulle c. Am J Med Genet A. 2016 May;170A(5):1317-24. doi: 10.1002/ajmg.a.37577. Epub 2016 Feb 1. Am J Med Genet A. 2016. PMID: 26833990
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
Béhin A, Acquaviva-Bourdain C, Souvannanorath S, Streichenberger N, Attarian S, Bassez G, Brivet M, Fouilhoux A, Labarre-Villa A, Laquerrière A, Pérard L, Kaminsky P, Pouget J, Rigal O, Vanhulle C, Eymard B, Vianey-Saban C, Laforêt P. Béhin A, et al. Among authors: vanhulle c. Rev Neurol (Paris). 2016 Mar;172(3):231-41. doi: 10.1016/j.neurol.2015.11.008. Epub 2016 Mar 30. Rev Neurol (Paris). 2016. PMID: 27038534
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C. Viguier A, et al. Among authors: vanhulle c. Neuromuscul Disord. 2019 Feb;29(2):114-126. doi: 10.1016/j.nmd.2018.10.002. Epub 2018 Oct 31. Neuromuscul Disord. 2019. PMID: 30598237
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
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