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Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L; I.B.AHC Consortium; IAHCRC Consortium; Harder AVE, Walley NM, De Grandis E, Poulat AL, Portes VD, Lépine A, Nassogne MC, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL Jr, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL. Panagiotakaki E, et al. Among authors: nassogne mc. Eur J Hum Genet. 2024 Feb;32(2):224-231. doi: 10.1038/s41431-023-01489-4. Epub 2023 Dec 14. Eur J Hum Genet. 2024. PMID: 38097767 Free article.
A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.
Rzem R, Veiga-da-Cunha M, Noël G, Goffette S, Nassogne MC, Tabarki B, Schöller C, Marquardt T, Vikkula M, Van Schaftingen E. Rzem R, et al. Among authors: nassogne mc. Proc Natl Acad Sci U S A. 2004 Nov 30;101(48):16849-54. doi: 10.1073/pnas.0404840101. Epub 2004 Nov 17. Proc Natl Acad Sci U S A. 2004. PMID: 15548604 Free PMC article.
Impaired mitochondrial pyruvate importation in a patient and a fetus at risk.
Brivet M, Garcia-Cazorla A, Lyonnet S, Dumez Y, Nassogne MC, Slama A, Boutron A, Touati G, Legrand A, Saudubray JM. Brivet M, et al. Among authors: nassogne mc. Mol Genet Metab. 2003 Mar;78(3):186-92. doi: 10.1016/s1096-7192(03)00016-7. Mol Genet Metab. 2003. PMID: 12649063
Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.
Giurgea I, Laborde K, Touati G, Bellanné-Chantelot C, Nassogne MC, Sempoux C, Jaubert F, Khoa N, Chigot V, Rahier J, Brunelle F, Nihoul-Fékété C, Dunne MJ, Stanley C, Saudubray JM, Robert JJ, de Lonlay P. Giurgea I, et al. Among authors: nassogne mc. J Clin Endocrinol Metab. 2004 Feb;89(2):925-9. doi: 10.1210/jc.2003-030941. J Clin Endocrinol Metab. 2004. PMID: 14764815
137 results