E Lebigot

Affiliations

Biochemistry Department, Hôpital Bicêtre, APHP Université Paris-Saclay, Le Kremlin Bicêtre F-94275, France; Université Paris-Saclay, CNRS, Institut de Chimie des Substances Naturelles, UPR 2301, 91198 Gif-sur-Yvette, France. Electronic address: elise.lebigot@aphp.fr.

Publications (14)

A novel mutation in the NR3C1 gene associated with reversible glucocorticoid resistance.

European journal of endocrinology

Avec: Margaux Laulhé , Emmanuelle Kuhn , Jérôme Bouligand , Larbi Amazit , Julie Perrot , Elise Lebigot , Peter Kamenickỷ , Marc Lombès , Jérôme Fagart , Say Viengchareun , Laetitia Martinerie

Human Dermal Fibroblast: A Promising Cellular Model to Study Biological Mechanisms of Major Depression and Antidepressant Drug Response.

Current neuropharmacology

Avec: Pierre Mesdom , Romain Colle , Elise Lebigot , Séverine Trabado , Eric Deflesselle , Bruno Fève , Laurent Becquemont , Emmanuelle Corruble , Céline Verstuyft

Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.

European journal of neurology

Avec: Marie-Céline François-Heude , Elise Lebigot , Emmanuel Roze , Marie Thérèse Abi Warde , Claude Cances , Lena Damaj , Caroline Espil , Joel Fluss , Pascale de Lonlay , Ilse Kern , Guy Lenaers , Arnold Munnich , Pierre Meyer , Marie-Aude Spitz , Stéphanie Torre , Diane Doummar , Guy Touati , Nicolas Leboucq , Agathe Roubertie

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Annals of clinical and translational neurology

Avec: Cécile Rouzier , Emmanuelle Pion , Annabelle Chaussenot , Céline Bris , Samira Ait-El-Mkadem Saadi , Valérie Desquiret-Dumas , Naïg Gueguen , Konstantina Fragaki , Patrizia Amati-Bonneau , Giulia Barcia , Pauline Gaignard , Julie Steffann , Alessandra Pennisi , Jean-Paul Bonnefont , Elise Lebigot , Sylvie Bannwarth , Bruno Francou , Benoit Rucheton , Damien Sternberg , Marie-Laure Martin-Negrier , Aurélien Trimouille , Gaëlle Hardy , Stéphane Allouche , Cécile Acquaviva-Bourdain , Cécile Pagan , Anne-Sophie Lebre , Pascal Reynier , Mireille Cossee , Shahram Attarian , Véronique Paquis-Flucklinger , Auteur inconnu , Vincent Procaccio

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 Laboratory.

Clinical chemistry

Avec: Kenneth Chappell , Bruno Francou , Christophe Habib , Thomas Huby , Marco Leoni , Aurélien Cottin , Florian Nadal , Eric Adnet , Eric Paoli , Christophe Oliveira , Céline Verstuyft , Anne Davit-Spraul , Pauline Gaignard , Elise Lebigot , Jean-Charles Duclos-Vallee , Jacques Young , Peter Kamenicky , David Adams , Andoni Echaniz-Laguna , Emmanuel Gonzales , Claire Bouvattier , Agnes Linglart , Véronique Picard , Emilie Bergoin , Emmanuel Jacquemin , Anne Guiochon-Mantel , Alexis Proust , Jérôme Bouligand

Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort.

Molecular genetics and metabolism reports

Avec: Claire-Marine Bérat , Célina Roda , Anais Brassier , Juliette Bouchereau , Camille Wicker , Aude Servais , Sandrine Dubois , Murielle Assoun , Claire Belloche , Valérie Barbier , Virginie Leboeuf , François M Petit , Pauline Gaignard , Elise Lebigot , Pierre-Jean Bérat , Clément Pontoizeau , Guy Touati , Cécile Talbotec , Florence Campeotto , Chris Ottolenghi , Jean-Baptiste Arnoux , Pascale de Lonlay Pascale

Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein.

Mitochondrion

Avec: E Lebigot , M Hully , L Amazit , P Gaignard , T Michel , M Rio , M Lombès , P Thérond , A Boutron , M P Golinelli-Cohen

Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.

Journal of inherited metabolic disease

Avec: Magali Gorce , Elise Lebigot , Alina Arion , Anaïs Brassier , Aline Cano , Pascale De Lonlay , François Feillet , Claire Gay , François Labarthe , Marie-Cécile Nassogne , Sandrine Roche , Agathe Roubertie , Elise Sacaze , Guy Touati , Pierre Broué

FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.

Neurology. Genetics

Avec: Sebastian Montealegre , Elise Lebigot , Hugo Debruge , Norma Romero , Bénédicte Héron , Pauline Gaignard , Antoine Legendre , Apolline Imbard , Stéphanie Gobin , Emmanuelle Lacène , Patrick Nusbaum , Arnaud Hubas , Isabelle Desguerre , Aude Servais , Pascal Laforêt , Peter van Endert , François Jérome Authier , Cyril Gitiaux , Pascale de Lonlay

Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in

Journal of pediatric endocrinology & metabolism : JPEM

Avec: Merve Emecen Sanli , Basak Cengiz , Ayse Kilic , Ekin Ozsaydi , Asli Inci , Ilyas Okur , Leyla Tumer , Elise Lebigot , Fatih Ezgu

Mitochondrial dysfunction caused by novel ATAD3A mutations.

Molecular genetics and metabolism

Avec: Nathalie Dorison , Pauline Gaignard , Aurélien Bayot , Antoinette Gelot , Pierre Hadrien Becker , Salma Fourati , Elise Lebigot , Perrine Charles , Timothy Wai , Patrice Therond , Abdelhamid Slama

A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation.

Biomedicines

Avec: Elise Lebigot , Manuel Schiff , Marie-Pierre Golinelli-Cohen

MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.

Brain : a journal of neurology

Avec: Claire Pujol , Elise Lebigot , Pauline Gaignard , Said Galai , Ichraf Kraoua , Jean-Philippe Bault , Rodolphe Dard , Ilhem Ben Youssef-Turki , Souheil Omar , Audrey Boutron , Timothy Wai , Abdelhamid Slama

UQCRC2-related mitochondrial complex III deficiency, about 7 patients.

Mitochondrion

Avec: Claire Bansept , Pauline Gaignard , Elise Lebigot , Didier Eyer , Geoffroy Delplancq , Célia Hoebeke , Karin Mazodier , Anaïs Ledoyen , Cécile Rouzier , Konstantina Fragaki , Samira Ait-El-Mkadem Saadi , Christophe Philippe , Ange-Line Bruel , Laurence Faivre , François Feillet , Marie-Thérèse Abi Warde

Réseau de co-auteurs

Elise Lebigot 13 collaborations

Pauline Gaignard 7 collaborations

Guy Touati 3 collaborations

Jérôme Bouligand 2 collaborations

Céline Verstuyft 2 collaborations

Pascale de Lonlay 2 collaborations

Agathe Roubertie 2 collaborations

Cécile Rouzier 2 collaborations

Samira Ait-El-Mkadem Saadi 2 collaborations

Konstantina Fragaki 2 collaborations

Bruno Francou 2 collaborations

Aude Servais 2 collaborations

François Feillet 2 collaborations

Timothy Wai 2 collaborations

Abdelhamid Slama 2 collaborations

Margaux Laulhé 1 collaboration

Emmanuelle Kuhn 1 collaboration

Larbi Amazit 1 collaboration

Julie Perrot 1 collaboration

Peter Kamenickỷ 1 collaboration

Marc Lombès 1 collaboration

Jérôme Fagart 1 collaboration

Say Viengchareun 1 collaboration

Laetitia Martinerie 1 collaboration

Pierre Mesdom 1 collaboration

Romain Colle 1 collaboration

Séverine Trabado 1 collaboration

Eric Deflesselle 1 collaboration

Bruno Fève 1 collaboration

Laurent Becquemont 1 collaboration

Emmanuelle Corruble 1 collaboration

Marie-Céline François-Heude 1 collaboration

Emmanuel Roze 1 collaboration

Marie Thérèse Abi Warde 1 collaboration

Claude Cances 1 collaboration

Lena Damaj 1 collaboration

Caroline Espil 1 collaboration

Joel Fluss 1 collaboration

Ilse Kern 1 collaboration

Guy Lenaers 1 collaboration

Arnold Munnich 1 collaboration

Pierre Meyer 1 collaboration

Marie-Aude Spitz 1 collaboration

Stéphanie Torre 1 collaboration

Diane Doummar 1 collaboration

Nicolas Leboucq 1 collaboration

Emmanuelle Pion 1 collaboration

Annabelle Chaussenot 1 collaboration

Céline Bris 1 collaboration

Valérie Desquiret-Dumas 1 collaboration

Naïg Gueguen 1 collaboration

Patrizia Amati-Bonneau 1 collaboration

Giulia Barcia 1 collaboration

Julie Steffann 1 collaboration

Alessandra Pennisi 1 collaboration

Jean-Paul Bonnefont 1 collaboration

Sylvie Bannwarth 1 collaboration

Benoit Rucheton 1 collaboration

Damien Sternberg 1 collaboration

Marie-Laure Martin-Negrier 1 collaboration

Aurélien Trimouille 1 collaboration

Gaëlle Hardy 1 collaboration

Stéphane Allouche 1 collaboration

Cécile Acquaviva-Bourdain 1 collaboration

Cécile Pagan 1 collaboration

Anne-Sophie Lebre 1 collaboration

Pascal Reynier 1 collaboration

Mireille Cossee 1 collaboration

Shahram Attarian 1 collaboration

Véronique Paquis-Flucklinger 1 collaboration

None None 1 collaboration

Vincent Procaccio 1 collaboration

Kenneth Chappell 1 collaboration

Christophe Habib 1 collaboration

Thomas Huby 1 collaboration

Marco Leoni 1 collaboration

Aurélien Cottin 1 collaboration

Florian Nadal 1 collaboration

Eric Adnet 1 collaboration

Eric Paoli 1 collaboration

Christophe Oliveira 1 collaboration

Anne Davit-Spraul 1 collaboration

Jean-Charles Duclos-Vallee 1 collaboration

Jacques Young 1 collaboration

Peter Kamenicky 1 collaboration

David Adams 1 collaboration

Andoni Echaniz-Laguna 1 collaboration

Emmanuel Gonzales 1 collaboration

Claire Bouvattier 1 collaboration

Agnes Linglart 1 collaboration

Véronique Picard 1 collaboration

Emilie Bergoin 1 collaboration

Emmanuel Jacquemin 1 collaboration

Anne Guiochon-Mantel 1 collaboration

Alexis Proust 1 collaboration

Claire-Marine Bérat 1 collaboration

Célina Roda 1 collaboration

Anais Brassier 1 collaboration

Juliette Bouchereau 1 collaboration

Camille Wicker 1 collaboration

Sandrine Dubois 1 collaboration

Murielle Assoun 1 collaboration

Claire Belloche 1 collaboration

Valérie Barbier 1 collaboration

Virginie Leboeuf 1 collaboration

François M Petit 1 collaboration

Pierre-Jean Bérat 1 collaboration

Clément Pontoizeau 1 collaboration

Cécile Talbotec 1 collaboration

Florence Campeotto 1 collaboration

Chris Ottolenghi 1 collaboration

Jean-Baptiste Arnoux 1 collaboration

Pascale de Lonlay Pascale 1 collaboration

M Hully 1 collaboration

L Amazit 1 collaboration

P Gaignard 1 collaboration

T Michel 1 collaboration

M Rio 1 collaboration

M Lombès 1 collaboration

P Thérond 1 collaboration

A Boutron 1 collaboration

M P Golinelli-Cohen 1 collaboration

Magali Gorce 1 collaboration

Alina Arion 1 collaboration

Anaïs Brassier 1 collaboration

Aline Cano 1 collaboration

Pascale De Lonlay 1 collaboration

Claire Gay 1 collaboration

François Labarthe 1 collaboration

Marie-Cécile Nassogne 1 collaboration

Sandrine Roche 1 collaboration

Elise Sacaze 1 collaboration

Pierre Broué 1 collaboration

Sebastian Montealegre 1 collaboration

Hugo Debruge 1 collaboration

Norma Romero 1 collaboration

Bénédicte Héron 1 collaboration

Antoine Legendre 1 collaboration

Apolline Imbard 1 collaboration

Stéphanie Gobin 1 collaboration

Emmanuelle Lacène 1 collaboration

Patrick Nusbaum 1 collaboration

Arnaud Hubas 1 collaboration

Isabelle Desguerre 1 collaboration

Pascal Laforêt 1 collaboration

Peter van Endert 1 collaboration

François Jérome Authier 1 collaboration

Cyril Gitiaux 1 collaboration

Merve Emecen Sanli 1 collaboration

Basak Cengiz 1 collaboration

Ayse Kilic 1 collaboration

Ekin Ozsaydi 1 collaboration

Asli Inci 1 collaboration

Ilyas Okur 1 collaboration

Leyla Tumer 1 collaboration

Fatih Ezgu 1 collaboration

Nathalie Dorison 1 collaboration

Aurélien Bayot 1 collaboration

Antoinette Gelot 1 collaboration

Pierre Hadrien Becker 1 collaboration

Salma Fourati 1 collaboration

Perrine Charles 1 collaboration

Patrice Therond 1 collaboration

Manuel Schiff 1 collaboration

Marie-Pierre Golinelli-Cohen 1 collaboration

Claire Pujol 1 collaboration

Said Galai 1 collaboration

Ichraf Kraoua 1 collaboration

Jean-Philippe Bault 1 collaboration

Rodolphe Dard 1 collaboration

Ilhem Ben Youssef-Turki 1 collaboration

Souheil Omar 1 collaboration

Audrey Boutron 1 collaboration

Claire Bansept 1 collaboration

Didier Eyer 1 collaboration

Geoffroy Delplancq 1 collaboration

Célia Hoebeke 1 collaboration

Karin Mazodier 1 collaboration

Anaïs Ledoyen 1 collaboration

Christophe Philippe 1 collaboration

Ange-Line Bruel 1 collaboration

Laurence Faivre 1 collaboration

Marie-Thérèse Abi Warde 1 collaboration