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Brain : a Journal of Neurology|November 23, 2022
MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathyClaire Pujol, Elise Lebigot, Pauline Gaignard, et al.Diagnostic Microbiology and Infectious Disease|April 11, 2025
Development and evaluation of ELISA serological immunoassays for influenza and respiratory syncytial virusesAlexandra Claudet, Noémi Alcover, Elise Lebigot, et al.Journal of Inherited Metabolic Disease|October 23, 2021
Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-upMagali Gorce, Elise Lebigot, Alina Arion, et al.Mitochondrion|December 12, 2022
UQCRC2-related mitochondrial complex III deficiency, about 7 patientsClaire Bansept, Pauline Gaignard, Elise Lebigot, et al.Neurology. Genetics|January 26, 2022
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron RegulationSebastian Montealegre, Elise Lebigot, Hugo Debruge, et al.Molecular Genetics and Metabolism|August 14, 2025
Childhood POLG-related disorders: Focus on polyradiculoneuropathyClaire-Marine Bérat, Marie Hully, Agnès Rötig, et al.Journal of Inherited Metabolic Disease|December 9, 2024
Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disordersApolline Imbard, Hortense de Calbiac, Edouard Le Guillou, et al.European Journal of Neurology|October 6, 2022
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficienciesMarie-Céline François-Heude, Elise Lebigot, Emmanuel Roze, et al.Molecular Genetics and Metabolism Reports|January 21, 2021
Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohortClaire-Marine Bérat, Célina Roda, Anais Brassier, et al.Clinical Chemistry|December 6, 2021
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical LaboratoryKenneth Chappell, Bruno Francou, Christophe Habib, et al.Pageof 3