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UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
Bansept C, Gaignard P, Lebigot E, Eyer D, Delplancq G, Hoebeke C, Mazodier K, Ledoyen A, Rouzier C, Fragaki K, Ait-El-Mkadem Saadi S, Philippe C, Bruel AL, Faivre L, Feillet F, Abi Warde MT. Bansept C, et al. Among authors: lebigot e. Mitochondrion. 2023 Jan;68:138-144. doi: 10.1016/j.mito.2022.12.001. Epub 2022 Dec 9. Mitochondrion. 2023. PMID: 36509339
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.
Lebigot E, Gaignard P, Dorboz I, Slama A, Rio M, de Lonlay P, Héron B, Sabourdy F, Boespflug-Tanguy O, Cardoso A, Habarou F, Ottolenghi C, Thérond P, Bouton C, Golinelli-Cohen MP, Boutron A. Lebigot E, et al. Mol Genet Metab. 2017 Nov;122(3):85-94. doi: 10.1016/j.ymgme.2017.08.001. Epub 2017 Aug 3. Mol Genet Metab. 2017. PMID: 28803783
Recurrent Liver Failure in an 11-Year-Old Boy.
Neveu J, Hoebeke C, Lebigot E, Naïmi M. Neveu J, et al. Among authors: lebigot e. Clin Chem. 2020 Aug 1;66(8):1115-1117. doi: 10.1093/clinchem/hvaa136. Clin Chem. 2020. PMID: 32746465 No abstract available.
Mitochondrial dysfunction caused by novel ATAD3A mutations.
Dorison N, Gaignard P, Bayot A, Gelot A, Becker PH, Fourati S, Lebigot E, Charles P, Wai T, Therond P, Slama A. Dorison N, et al. Among authors: lebigot e. Mol Genet Metab. 2020 Sep-Oct;131(1-2):107-113. doi: 10.1016/j.ymgme.2020.09.002. Epub 2020 Sep 9. Mol Genet Metab. 2020. PMID: 32933822 Free article.
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.
Montealegre S, Lebigot E, Debruge H, Romero N, Héron B, Gaignard P, Legendre A, Imbard A, Gobin S, Lacène E, Nusbaum P, Hubas A, Desguerre I, Servais A, Laforêt P, van Endert P, Authier FJ, Gitiaux C, de Lonlay P. Montealegre S, et al. Among authors: lebigot e. Neurol Genet. 2022 Jan 19;8(1):e648. doi: 10.1212/NXG.0000000000000648. eCollection 2022 Feb. Neurol Genet. 2022. PMID: 35079622 Free PMC article.
41 results