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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.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chrétien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kölker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P. Habarou F, et al. Among authors: lebigot e. Am J Hum Genet. 2017 Aug 3;101(2):283-290. doi: 10.1016/j.ajhg.2017.07.001. Epub 2017 Jul 27. Am J Hum Genet. 2017. PMID: 28757203 Free PMC article.
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
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.
Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort.
Bérat CM, Roda C, Brassier A, Bouchereau J, Wicker C, Servais A, Dubois S, Assoun M, Belloche C, Barbier V, Leboeuf V, Petit FM, Gaignard P, Lebigot E, Bérat PJ, Pontoizeau C, Touati G, Talbotec C, Campeotto F, Ottolenghi C, Arnoux JB, de Lonlay Pascale P. Bérat CM, et al. Among authors: lebigot e. Mol Genet Metab Rep. 2021 Jan 5;26:100655. doi: 10.1016/j.ymgmr.2020.100655. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33473351 Free PMC article.
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
François-Heude MC, Lebigot E, Roze E, Warde MTA, Cances C, Damaj L, Espil C, Fluss J, de Lonlay P, Kern I, Lenaers G, Munnich A, Meyer P, Spitz MA, Torre S, Doummar D, Touati G, Leboucq N, Roubertie A. François-Heude MC, et al. Among authors: lebigot e. Eur J Neurol. 2022 Nov;29(11):3229-3242. doi: 10.1111/ene.15515. Epub 2022 Aug 9. Eur J Neurol. 2022. PMID: 36200804 Free article.
41 results