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2015 1
2017 3
2020 4
2021 3
2022 4
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Page 1
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.
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.
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B. Hengel H, et al. Among authors: lebigot e. Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7. Nat Commun. 2020. PMID: 32001716 Free PMC 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.
Troponin elevation in other conditions than acute coronary syndromes.
Masri W, Le Guillou E, Hamdi E, Ghazal K, Lebigot E, Cosson C, Cynober FB, Therond P. Masri W, et al. Among authors: lebigot e. Ann Biol Clin (Paris). 2017 Aug 1;75(4):411-419. doi: 10.1684/abc.2017.1262. Ann Biol Clin (Paris). 2017. PMID: 28751286 Free article. English.
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.
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.
14 results