UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia
Gaignard, Pauline, Eyer, Didier, Lebigot, Elise, Oliveira, Christophe, Therond, Patrice, Boutron, Audrey, Slama, Abdelhamid
Published in Journal of human genetics (01.07.2017)
Published in Journal of human genetics (01.07.2017)
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Journal Article
Human Dermal Fibroblast: A Promising Cellular Model to Study Biological Mechanisms of Major Depression and Antidepressant Drug Response
Mesdom, Pierre, Colle, Romain, Lebigot, Elise, Trabado, Séverine, Deflesselle, Eric, Fève, Bruno, Becquemont, Laurent, Corruble, Emmanuelle, Verstuyft, Céline
Published in Current neuropharmacology (01.01.2020)
Published in Current neuropharmacology (01.01.2020)
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Journal Article
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation
Montealegre, Sebastian, Lebigot, Elise, Debruge, Hugo, Romero, Norma, Héron, Bénédicte, Gaignard, Pauline, Legendre, Antoine, Imbard, Apolline, Gobin, Stéphanie, Lacène, Emmanuelle, Nusbaum, Patrick, Hubas, Arnaud, Desguerre, Isabelle, Servais, Aude, Laforêt, Pascal, van Endert, Peter, Authier, François Jérome, Gitiaux, Cyril, de Lonlay, Pascale
Published in Neurology. Genetics (01.02.2022)
Published in Neurology. Genetics (01.02.2022)
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Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort
Bérat, Claire-Marine, Roda, Célina, Brassier, Anais, Bouchereau, Juliette, Wicker, Camille, Servais, Aude, Dubois, Sandrine, Assoun, Murielle, Belloche, Claire, Barbier, Valérie, Leboeuf, Virginie, Petit, François M., Gaignard, Pauline, Lebigot, Elise, Bérat, Pierre-Jean, Pontoizeau, Clément, Touati, Guy, Talbotec, Cécile, Campeotto, Florence, Ottolenghi, Chris, Arnoux, Jean-Baptiste, de Lonlay pascale, Pascale
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Journal Article
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
de Thonel, Aurélie, Ahlskog, Johanna K, Daupin, Kevin, Dubreuil, Véronique, Berthelet, Jérémy, Chaput, Carole, Pires, Geoffrey, Leonetti, Camille, Abane, Ryma, Barris, Lluís Cordón, Leray, Isabelle, Aalto, Anna L, Naceri, Sarah, Cordonnier, Marine, Benasolo, Carène, Sanial, Matthieu, Duchateau, Agathe, Vihervaara, Anniina, Puustinen, Mikael C, Miozzo, Federico, Fergelot, Patricia, Lebigot, Élise, Verloes, Alain, Gressens, Pierre, Lacombe, Didier, Gobbo, Jessica, Garrido, Carmen, Westerheide, Sandy D, David, Laurent, Petitjean, Michel, Taboureau, Olivier, Rodrigues-Lima, Fernando, Passemard, Sandrine, Sabéran-Djoneidi, Délara, Nguyen, Laurent, Lancaster, Madeline, Sistonen, Lea, Mezger, Valérie
Published in Nature communications (16.11.2022)
Published in Nature communications (16.11.2022)
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Journal Article
Elevated MCHC reveals a Southeast Asian Ovalocytosis
Souissi, Maïssa, Daliphard, Sylvie, Picard, Véronique, Lebigot, Elise, Jardin, Fabrice, Bobée, Victor
Published in American journal of hematology (01.02.2024)
Published in American journal of hematology (01.02.2024)
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Journal Article
A novel mutation in the NR3C1 gene associated with reversible glucocorticoid resistance: Reversible glucocorticoid resistance: case report
Laulhé, Margaux, Kuhn, Emmanuelle, Bouligand, Jérôme, Amazit, Larbi, Perrot, Julie, Lebigot, Elise, Kamenickỷ, Peter, Lombès, Marc, Fagart, Jérôme, Viengchareun, Say, Martinerie, Laetitia
Published in European journal of endocrinology (30.04.2024)
Published in European journal of endocrinology (30.04.2024)
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Journal Article
Recurrent Liver Failure in an 11-Year-Old Boy
Neveu, Julien, Hoebeke, Célia, Lebigot, Elise, Naïmi, Mourad
Published in Clinical chemistry (Baltimore, Md.) (01.08.2020)
Published in Clinical chemistry (Baltimore, Md.) (01.08.2020)
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Journal Article
Mitochondrial dysfunction caused by novel ATAD3A mutations
Dorison, Nathalie, Gaignard, Pauline, Bayot, Aurélien, Gelot, Antoinette, Becker, Pierre Hadrien, Fourati, Salma, Lebigot, Elise, Charles, Perrine, Wai, Timothy, Therond, Patrice, Slama, Abdelhamid
Published in Molecular genetics and metabolism (01.09.2020)
Published in Molecular genetics and metabolism (01.09.2020)
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Journal Article
MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy
Pujol, Claire, Lebigot, Elise, Gaignard, Pauline, Galai, Said, Kraoua, Ichraf, Bault, Jean-Philippe, Dard, Rodolphe, Youssef-Turki, Ilhem Ben, Omar, Souheil, Boutron, Audrey, Wai, Timothy, Slama, Abdelhamid
Published in Brain (London, England : 1878) (01.03.2023)
Published in Brain (London, England : 1878) (01.03.2023)
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Journal Article
A novel mutation in the NR3C1 gene associated with reversible glucocorticoid resistance
Laulhé, Margaux, Kuhn, Emmanuelle, Bouligand, Jérôme, Amazit, Larbi, Perrot, Julie, Lebigot, Elise, Kamenickỷ, Peter, Lombès, Marc, Fagart, Jérôme, Viengchareun, Say, Martinerie, Laetitia
Published in European journal of endocrinology (30.03.2024)
Published in European journal of endocrinology (30.03.2024)
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Journal Article
Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1
Emecen Sanli, Merve, Cengiz, Basak, Kilic, Ayse, Ozsaydi, Ekin, Inci, Asli, Okur, Ilyas, Tumer, Leyla, Lebigot, Elise, Ezgu, Fatih
Published in Journal of Pediatric Endocrinology & Metabolism (26.04.2022)
Published in Journal of Pediatric Endocrinology & Metabolism (26.04.2022)
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Journal Article
Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients
Lebigot, Elise, Brassier, Anaïs, Zater, Mokhtar, Imanci, Dilek, Feillet, François, Thérond, Patrice, de Lonlay, Pascale, Boutron, Audrey
Published in Journal of inherited metabolic disease (01.09.2015)
Published in Journal of inherited metabolic disease (01.09.2015)
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Journal Article
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Habarou, Florence, Hamel, Yamina, Haack, Tobias B., Feichtinger, René G., Lebigot, Elise, Marquardt, Iris, Busiah, Kanetee, Laroche, Cécile, Madrange, Marine, Grisel, Coraline, Pontoizeau, Clément, Eisermann, Monika, Boutron, Audrey, Chrétien, Dominique, Chadefaux-Vekemans, Bernadette, Barouki, Robert, Bole-Feysot, Christine, Nitschke, Patrick, Goudin, Nicolas, Boddaert, Nathalie, Nemazanyy, Ivan, Delahodde, Agnès, Kölker, Stefan, Rodenburg, Richard J., Korenke, G. Christoph, Meitinger, Thomas, Strom, Tim M., Prokisch, Holger, Rotig, Agnes, Ottolenghi, Chris, Mayr, Johannes A., de Lonlay, Pascale
Published in American journal of human genetics (03.08.2017)
Published in American journal of human genetics (03.08.2017)
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Journal Article
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y, Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M, Gunay-Aygun, Meral, Muriello, Michael J, Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G, Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl A A P, Oegema, Renske, Mitchell, Wendy G, Pierson, Tyler Mark, Andrews, Marisa V, Willing, Marcia C, Rodan, Lance H, Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H, Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M, Hashem, Mais O, AlSayed, Moeenaldeen D, Abdulrahim, Maha M, Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel A H, Faqeih, Eissa A, Asmari, Ali Al, Algain, Sulwan M, Jad, Lamyaa A, Aldhalaan, Hesham M, Helbig, Ingo, Koolen, David A, Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E, Klee, Eric W, Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A, Stewart, James C, Claridge-Chang, Adam, Lefeber, Dirk J, Alkuraya, Fowzan S, Mathuru, Ajay S, Venkatesh, Byrappa, Barycki, Joseph J, Simpson, Melanie A, Jamuar, Saumya S, Schöls, Ludger, Reversade, Bruno
Published in Nature communications (30.01.2020)
Published in Nature communications (30.01.2020)
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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
Chappell, Kenneth, Francou, Bruno, Habib, Christophe, Huby, Thomas, Leoni, Marco, Cottin, Aurélien, Nadal, Florian, Adnet, Eric, Paoli, Eric, Oliveira, Christophe, Verstuyft, Céline, Davit-Spraul, Anne, Gaignard, Pauline, Lebigot, Elise, Duclos-Vallee, Jean-Charles, Young, Jacques, Kamenicky, Peter, Adams, David, Echaniz-Laguna, Andoni, Gonzales, Emmanuel, Bouvattier, Claire, Linglart, Agnes, Picard, Véronique, Bergoin, Emilie, Jacquemin, Emmanuel, Guiochon-Mantel, Anne, Proust, Alexis, Bouligand, Jérôme
Published in Clinical chemistry (Baltimore, Md.) (01.02.2022)
Published in Clinical chemistry (Baltimore, Md.) (01.02.2022)
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Journal Article
UQCRC2-related mitochondrial complex III deficiency, about 7 patients
Bansept, Claire, Gaignard, Pauline, Lebigot, Elise, Eyer, Didier, Delplancq, Geoffroy, Hoebeke, Célia, Mazodier, Karin, Ledoyen, Anaïs, Rouzier, Cécile, Fragaki, Konstantina, Ait-El-Mkadem Saadi, Samira, Philippe, Christophe, Bruel, Ange-Line, Faivre, Laurence, Feillet, François, Abi Warde, Marie-Thérèse
Published in Mitochondrion (01.01.2023)
Published in Mitochondrion (01.01.2023)
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Journal Article
Fructose‐1,6‐bisphosphatase deficiency causes fatty liver disease and requires long‐term hepatic follow‐up
Gorce, Magali, Lebigot, Elise, Arion, Alina, Brassier, Anaïs, Cano, Aline, De Lonlay, Pascale, Feillet, François, Gay, Claire, Labarthe, François, Nassogne, Marie‐Cécile, Roche, Sandrine, Roubertie, Agathe, Sacaze, Elise, Touati, Guy, Broué, Pierre
Published in Journal of inherited metabolic disease (01.03.2022)
Published in Journal of inherited metabolic disease (01.03.2022)
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Journal Article
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies
François‐Heude, Marie‐Céline, Lebigot, Elise, Roze, Emmanuel, Warde, Marie Thérèse Abi, Cances, Claude, Damaj, Lena, Espil, Caroline, Fluss, Joel, Lonlay, Pascale, Kern, Ilse, Lenaers, Guy, Munnich, Arnold, Meyer, Pierre, Spitz, Marie‐Aude, Torre, Stéphanie, Doummar, Diane, Touati, Guy, Leboucq, Nicolas, Roubertie, Agathe
Published in European journal of neurology (01.11.2022)
Published in European journal of neurology (01.11.2022)
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