Élise Lebigot

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

Florence Habarou, Yamina Hamel, Tobias B. Haack et al. · The American Journal of Human Genetics · 2017 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Fructose 1,6‐bisphosphatase deficiency: clinical, biochemical and genetic features in French patients

Élise Lebigot, Anaïs Brassier, Mokhtar Zater et al. · Journal of Inherited Metabolic Disease · 2015 · 60 citations

Life Sciences, Biochemistry, Endocrinology +13

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Holger Hengel, Célia Bosso-Lefèvre, George Grady et al. · Nature Communications · 2020 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients

Élise Lebigot, Pauline Gaignard, Imen Dorboz et al. · Molecular Genetics and Metabolism · 2017 · 52 citations

Life Sciences, Genetics, Molecular Biology +14

UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia

Pauline Gaignard, Didier Eyer, Élise Lebigot et al. · Journal of Human Genetics · 2017 · 39 citations

Life Sciences, Genetics, Molecular Genetics +17