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Treatment and outcome of aquaporin-4 antibody-positive NMOSD: A multinational pediatric study.
Paolilo RB, Hacohen Y, Yazbeck E, Armangue T, Bruijstens A, Lechner C, Apostolos-Pereira SL, Martynenko Y, Breu M, de Medeiros Rimkus C, Wassmer E, Baumann M, Papetti L, Capobianco M, Kornek B, Rostásy K, da Paz JA, Ciccarelli O, Lim M, Saiz A, Neuteboom R, Marignier R, Hemingway C, Sato DK, Deiva K. Paolilo RB, et al. Among authors: yazbeck e. Neurol Neuroimmunol Neuroinflamm. 2020 Jul 30;7(5):e837. doi: 10.1212/NXI.0000000000000837. Print 2020 Sep. Neurol Neuroimmunol Neuroinflamm. 2020. PMID: 32732259 Free PMC article.
Risk factors for academic difficulties in children with myelin oligodendrocyte glycoprotein antibody-associated acute demyelinating syndromes.
Deiva K, Cobo-Calvo A, Maurey H, De Chalus A, Yazbeck E, Husson B, Vukusic S, Serguerra C, Horellou P, Marignier R; Kidbiosep Cohort. Deiva K, et al. Among authors: yazbeck e. Dev Med Child Neurol. 2020 Sep;62(9):1075-1081. doi: 10.1111/dmcn.14594. Epub 2020 Jun 22. Dev Med Child Neurol. 2020. PMID: 32567093 Free article.
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
Köhler W, Engelen M, Eichler F, Lachmann R, Fatemi A, Sampson J, Salsano E, Gamez J, Molnar MJ, Pascual S, Rovira M, Vilà A, Pina G, Martín-Ugarte I, Mantilla A, Pizcueta P, Rodríguez-Pascau L, Traver E, Vilalta A, Pascual M, Martinell M, Meya U, Mochel F; ADVANCE Study Group. Köhler W, et al. Lancet Neurol. 2023 Feb;22(2):127-136. doi: 10.1016/S1474-4422(22)00495-1. Lancet Neurol. 2023. PMID: 36681445 Clinical Trial.
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Poggio E, Barazzuol L, Salmaso A, Milani C, Deligiannopoulou A, Cazorla ÁG, Jang SS, Juliá-Palacios N, Keren B, Kopajtich R, Lynch SA, Mignot C, Moorwood C, Neuhofer C, Nigro V, Oostra A, Prokisch H, Saillour V, Schuermans N, Torella A, Verloo P, Yazbeck E, Zollino M, Jech R, Winkelmann J, Necpal J, Calì T, Brini M, Zech M. Poggio E, et al. Among authors: yazbeck e. Genet Med. 2023 Dec;25(12):100971. doi: 10.1016/j.gim.2023.100971. Epub 2023 Sep 4. Genet Med. 2023. PMID: 37675773
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, Sarret C, Sevin C, Ville D, Sitbon M, Costa JM, Pons R, Garcia-Cazorla A, Vuillaumier S, Petit V, Boespflug-Tanguy O, De Vivo DC; MetaGlut1 Study Group. Mochel F, et al. Neurology. 2023 Jun 6;100(23):e2360-e2373. doi: 10.1212/WNL.0000000000207296. Epub 2023 Apr 19. Neurology. 2023. PMID: 37076312 Free PMC article.