المؤلفون: Michela Di Michele, Aurore Attina, Pierre-François Roux, Imène Tabet, Sophie Laguesse, Javier Florido, Morane Houdeville, Armelle Choquet, Betty Encislai, Giuseppe Arena, Carlo De Blasio, Olivia Wendling, François-Xavier Frenois, Laura Papon, Lucille Stuani, Maryse Fuentes, Céline Jahannault Talignani, Mélanie Rousseau, Justine Guégan, Yoan Buscail, Pierrick Dupré, Henri-Alexandre Michaud, Geneviève Rodier, Floriant Bellvert, Hanna Kulyk, Carole Ferraro Peyret, Hugo Mathieu, Pierre Close, Francesca Rapino, Cédric Chaveroux, Nelly Pirot, Lucie Rubio, Adeline Torro, Tania Sorg, Fabrice Ango, Christophe Hirtz, Vincent Compan, Elise Lebigot, Andrea Legati, Daniele Ghezzi, Laurent Nguyen, Alexandre David, Claude Sardet, Matthieu Lacroix, Laurent Le Cam

المصدر: Nature Communications, Vol 16, Iss 1, Pp 1-17 (2025)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/8c3c3af22cdd4eb2b62644f004b121a2

المؤلفون: 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, MitoDiag's Network Collaborators, Vincent Procaccio

المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1478-1491 (2024)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/e4307533a35a473a9b33fb23706ccfa7

المؤلفون: 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

المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100655- (2021)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920301014; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/5305a830d5894d958f53a020b67a5820

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

المصدر: Biomedicines, Vol 9, Iss 8, p 989 (2021)

مصطلحات موضوعية: MMDS, Fe-S proteins, NFU1, IBA57, BOLA3, ISCA1, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/9/8/989; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/290c60f854eb402d8b7a084dc6a6b26b

المؤلفون: Aurélie de Thonel, Johanna K. Ahlskog, Kevin Daupin, Véronique Dubreuil, Jérémy Berthelet, Carole Chaput, Geoffrey Pires, Camille Leonetti, Ryma Abane, Lluís Cordón Barris, Isabelle Leray, Anna L. Aalto, Sarah Naceri, Marine Cordonnier, Carène Benasolo, Matthieu Sanial, Agathe Duchateau, Anniina Vihervaara, Mikael C. Puustinen, Federico Miozzo, Patricia Fergelot, Élise Lebigot, Alain Verloes, Pierre Gressens, Didier Lacombe, Jessica Gobbo, Carmen Garrido, Sandy D. Westerheide, Laurent David, Michel Petitjean, Olivier Taboureau, Fernando Rodrigues-Lima, Sandrine Passemard, Délara Sabéran-Djoneidi, Laurent Nguyen, Madeline Lancaster, Lea Sistonen, Valérie Mezger

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/s41467-023-41869-4; https://doaj.org/toc/2041-1723; https://doaj.org/article/4589c26879ce46d1a03bf9df8d0e1d72

الاتاحة: https://doi.org/10.1038/s41467-023-41869-4
https://doaj.org/article/4589c26879ce46d1a03bf9df8d0e1d72

المؤلفون: Aurélie de Thonel, Johanna K. Ahlskog, Kevin Daupin, Véronique Dubreuil, Jérémy Berthelet, Carole Chaput, Geoffrey Pires, Camille Leonetti, Ryma Abane, Lluís Cordón Barris, Isabelle Leray, Anna L. Aalto, Sarah Naceri, Marine Cordonnier, Carène Benasolo, Matthieu Sanial, Agathe Duchateau, Anniina Vihervaara, Mikael C. Puustinen, Federico Miozzo, Patricia Fergelot, Élise Lebigot, Alain Verloes, Pierre Gressens, Didier Lacombe, Jessica Gobbo, Carmen Garrido, Sandy D. Westerheide, Laurent David, Michel Petitjean, Olivier Taboureau, Fernando Rodrigues-Lima, Sandrine Passemard, Délara Sabéran-Djoneidi, Laurent Nguyen, Madeline Lancaster, Lea Sistonen, Valérie Mezger

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-21 (2022)

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/s41467-022-34476-2; https://doaj.org/toc/2041-1723; https://doaj.org/article/9f7e7aecc3a8463b9a5732585bfbb110

الاتاحة: https://doi.org/10.1038/s41467-022-34476-2
https://doaj.org/article/9f7e7aecc3a8463b9a5732585bfbb110

المؤلفون: 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

المصدر: Mitochondrion. 68:138-144

مصطلحات موضوعية: Molecular Medicine, Cell Biology, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c8c76166557f895cd7a90d29e1bff8f
https://doi.org/10.1016/j.mito.2022.12.001

المؤلفون: Di Michele, Michela, Aurore, Attina, Pierre-François, Roux, Imène, Tabet, Sophie, Laguesse, Javier, Florido, Morane, Houdeville, Armelle, Choquet, Betty, Encislai, Giuseppe, Arena, Carlo, de Blasio, Olivia, Wendling, Francois-Xavier, Frenois, Laura, Papon, Lucille, Stuani, Maryse, Fuentes, Céline, Jahanault-Tagliani, Mélanie, Rousseau, Justine, Guégan, Yoan, Buscail, Pierrick, Dupré, Henri-Alexandre, Michaud, Geneviève, Rodier, Floriant, Bellvert, Hanna, Kulyk, Carole, Ferraro Peyret, Hugo, Mathieu, Pierre, Close, Francesca, Rapino, Cédric, Chaveroux, Nelly, Pirot, Lucie, Rubio, Adeline, Torro, Tania, Sorg, Fabrice, Ango, Christophe, Hirtz, Vincent, Compan, Elise, Lebigot, Andrea, Legati, Daniele, Ghezzi, Laurent, Nguyen, Alexandre, David, Claude, Sardet, Matthieu, Lacroix, Laurent, Le Cam

المساهمون: Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Plateforme de Protéomique Clinique de Montpellier (PPC), BioCampus (BCM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université de Montpellier (UM), Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM), Equipe labelisée Ligue Contre le Cancer, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), UNICANCER - Institut régional du Cancer Montpellier Val d'Aurelle (ICM), CRLCC Val d'Aurelle - Paul Lamarque, Laboratoire de Biologie Tissulaire et d'ingénierie Thérapeutique (LBTI), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)

المصدر: https://hal.science/hal-04804057 ; 2024.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: BIORXIV: 2022.12.19.521032

الاتاحة: https://hal.science/hal-04804057
https://doi.org/10.1101/2022.12.19.521032

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

المصدر: Journal of Pediatric Endocrinology and Metabolism. 35:497-503

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0c148f86f976201991a9587e1bb86da
https://doi.org/10.1515/jpem-2021-0732

المؤلفون: 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

المصدر: Clinical Chemistry. 68:313-321

مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry, Computational Biology, High-Throughput Nucleotide Sequencing, Humans, Sequence Analysis, DNA, Laboratories, Clinical, Software

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0024a3677681b9863a79bb47a02f93f7
https://doi.org/10.1093/clinchem/hvab220

المؤلفون: 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

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de référence en lésions congénitales de la moëlle épinière, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire, UCL - (SLuc) Service de neurologie pédiatrique

المصدر: Journal of inherited metabolic disease, Vol. 45, no.2, p. 215-222 (2022)

مصطلحات موضوعية: Fructose-1,6-Diphosphatase Deficiency, medicine.medical_specialty, Fructose, Hypoglycemia, Gastroenterology, Mice, Liver disease, Internal medicine, Genetics, medicine, Animals, Humans, Transaminases, Genetics (clinical), medicine.diagnostic_test, business.industry, Fatty liver, acute liver failure, medicine.disease, 6-bisphosphatase deficiency, Fructose-Bisphosphatase, Fatty Liver, lactic acidosis, Liver, Lactic acidosis, Liver biopsy, bright liver, Etiology, fatty liver disease, Hyperlactatemia, fructose-1, Steatosis, business, gluconeogenesis defect, Follow-Up Studies, Hepatomegaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13e22dbb4aa69956b696a658e4dbd9fb
https://doi.org/10.1002/jimd.12452

المؤلفون: 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

المساهمون: Biologie mitochondriale – Mitochondrial biology, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Université Paris-Saclay, Université de Tunis El Manar (UTM), CHI Poissy-Saint-Germain, T.W. is supported by the European Research Council (ERC) Starting Grant No. 714472 (Acronym ‘Mitomorphosis’). T.W. and C.P are supported by the French National Center for Scientific Research (CNRS). E.L., P.G. and A.S. are supported by the AMMI ‘Association contre les Maladies MItochondriales’. S.G is supported by Tunisian Ministry of High Education and Scientific Research through the Junior Project ‘Jeune Enseignant Chercheur PJEC’., European Project: 714472,ERC-2016-STG,Mitomorphosis(2017)

المصدر: Research Square
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2022, pp.awac444. ⟨10.1093/brain/awac444⟩

مصطلحات موضوعية: mitochondria, [SDV]Life Sciences [q-bio], pyruvate carrier, Neurology (clinical), mitochondria pyruvate carrier metabolism, metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2905a31027effd69b8b3948dc6195903
https://pubmed.ncbi.nlm.nih.gov/36417180

المؤلفون: M. Hully, Elise Lebigot, Pauline Gaignard, Patrice Therond, Thomas Michel, Marlène Rio, Marc Lombès, Marie-Pierre Golinelli-Cohen, A. Boutron, L. Amazit

المساهمون: Institut de Chimie des Substances Naturelles, Centre National de la Recherche Scientifique (CNRS)

المصدر: Mitochondrion
Mitochondrion, Elsevier, 2020, ⟨10.1016/j.mito.2020.02.008⟩

مصطلحات موضوعية: Iron-Sulfur Proteins, Male, 0301 basic medicine, Lipoic acid synthesis, Mitochondrial Diseases, [SDV]Life Sciences [q-bio], Mitochondrial disease, Respiratory chain, Iron–sulfur cluster, Biology, Mitochondrial Proteins, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Protein Domains, medicine, Humans, Molecular Biology, Mitochondrial protein, Cells, Cultured, Protein Stability, Cell Biology, medicine.disease, Phenotype, Pedigree, Cell biology, Lipoic acid, 030104 developmental biology, Amino Acid Substitution, chemistry, Child, Preschool, Molecular Medicine, 030217 neurology & neurosurgery, Biogenesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d9070b08f4be00d1adb2f56a8cecd03
https://doi.org/10.1016/j.mito.2020.02.008

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

المصدر: Current Neuropharmacology

مصطلحات موضوعية: 0301 basic medicine, Drug, media_common.quotation_subject, Models, Biological, Article, Dermal fibroblast, 03 medical and health sciences, 0302 clinical medicine, Skin Physiological Phenomena, mental disorders, medicine, Drug response, Humans, major depressive episode, Pharmacology (medical), Major depressive episode, Human dermal fibroblasts, Depression (differential diagnoses), Skin, media_common, Pharmacology, Depressive Disorder, Major, integumentary system, business.industry, Brain, Mesenchymal Stem Cells, General Medicine, Fibroblasts, medicine.disease, Antidepressive Agents, cellular model, Psychiatry and Mental health, 030104 developmental biology, Neurology, Antidepressant, Major depressive disorder, antidepressant drug, Neurology (clinical), medicine.symptom, Cellular model, major depression, business, Neuroscience, human skin fibroblasts, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4498ebeff610bad71c8f4fbd0ba0dbb
https://doi.org/10.2174/1570159x17666191021141057

المؤلفون: 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

المساهمون: CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hôpital Bicêtre, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Strasbourg, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Sud [CHU Rennes], CHU Pontchaillou [Rennes], CHU Bordeaux [Bordeaux], Hôpitaux Universitaires de Genève (HUG), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Hôpital Cochin [AP-HP], Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), CHU Trousseau [APHP], Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), MORNET, Dominique

المصدر: European Journal of Neurology
European Journal of Neurology, 2022, 29 (11), pp.3229-3242. ⟨10.1111/ene.15515⟩

مصطلحات موضوعية: Movement Disorders, ECHS1, [SDV]Life Sciences [q-bio], Valine, [SDV] Life Sciences [q-bio], Dystonia, Neurology, Chorea, Dystonic Disorders, Humans, Abnormalities, Multiple, Coenzyme A, Neurology (clinical), Thiolester Hydrolases, HIBCH, Leigh Disease, inherited metabolic disease, Amino Acid Metabolism, Inborn Errors, Enoyl-CoA Hydratase

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::730db116c938a17a8e9f30594c868b00
https://pubmed.ncbi.nlm.nih.gov/36200804

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

المصدر: Journal of pediatric endocrinologymetabolism : JPEMReferences. 35(4)

مصطلحات موضوعية: Fructose-1,6-Diphosphatase Deficiency, INDEL Mutation, Turkey, Mutation, Humans, Fructose, Fructose-Bisphosphatase, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::596a883dc4c6cd0e19354bd38efcf432
https://pubmed.ncbi.nlm.nih.gov/35179010

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

المساهمون: Institut de Chimie des Substances Naturelles (ICSN), Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)

المصدر: Biomedicines
Biomedicines, MDPI, 2021, 9, ⟨10.3390/biomedicines9080989⟩
Biomedicines, Vol 9, Iss 989, p 989 (2021)

مصطلحات موضوعية: QH301-705.5, [SDV]Life Sciences [q-bio], Medicine (miscellaneous), Review, Oxidative phosphorylation, Biology, NFU1, Bioinformatics, Genetic analysis, MMDS, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, M, Leukoencephalopathy, IBA57, 03 medical and health sciences, 0302 clinical medicine, Genotype, medicine, E, ISCA2, Lebigot, ISCA1, Biology (General), Gene, Exome sequencing, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, Syndromes Associated with Defective Fe-S Protein Maturation MMDS, Schiff, Dilated cardiomyopathy, M.-P. A Review of Multiple Mitochondrial Dysfunction Syndromes, medicine.disease, Golinelli-Cohen, 3. Good health, Fe-S proteins, BOLA3, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca739d7f62f9ec36757e052d6568e9ad
https://hal.archives-ouvertes.fr/hal-03368230/document

المؤلفون: 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

المساهمون: Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Bicêtre, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Cochin [AP-HP], Hôpital Raymond Poincaré [AP-HP], Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Henri Mondor, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Association Française contre les Myopathies, AFM: AFM 2016-2018 19773, Agence Nationale de la Recherche, ANR: ANR-AAPG 2018 CE17 MetabInf, The Article Processing Charge was funded by the authors., HAL UVSQ, Équipe

المصدر: Neurology: Genetics
article-version (Version of Record) 3
Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩
Neurology Genetics, 2022, 8 (1), ⟨10.1212/NXG.0000000000000648⟩

مصطلحات موضوعية: [SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio], Neurology (clinical), Genetics (clinical), Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cb7193ea7e34da727027108b89bbc8c
https://pubmed.ncbi.nlm.nih.gov/35079622

المؤلفون: Célina Roda, Pascale de Lonlay pascale, Clément Pontoizeau, Pierre-Jean Bérat, Pauline Gaignard, Guy Touati, Elise Lebigot, Jean-Baptiste Arnoux, M. Assoun, Valérie Barbier, Sandrine Dubois, Camille Wicker, Cécile Talbotec, Claire Belloche, Virginie Leboeuf, Anaïs Brassier, Aude Servais, Juliette Bouchereau, Chris Ottolenghi, Francois Michael Petit, F. Campeotto, Claire-Marine Bérat

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100655-(2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.medical_treatment, Context (language use), Disease, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, food, Genetics, medicine, In patient, Molecular Biology, lcsh:QH301-705.5, Enteral Tube Feeding, 0303 health sciences, lcsh:R5-920, Maple syrup, business.industry, 030305 genetics & heredity, Dietary management, Gastrostomy, food.food, lcsh:Biology (General), Cohort, business, lcsh:Medicine (General), 030217 neurology & neurosurgery, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdc665b996ce23377d350d48ae146c71
https://pubmed.ncbi.nlm.nih.gov/33473351

المؤلفون: Elise Lebigot, Julien Neveu, Mourad Naïmi, Célia Hoebeke

المصدر: Clinical chemistry. 66(8)

مصطلحات موضوعية: Male, medicine.medical_specialty, Dihydrolipoamide dehydrogenase, business.industry, Biochemistry (medical), Clinical Biochemistry, Liver failure, medicine.disease, Gastroenterology, Hypoglycemia, Maple Syrup Urine Disease, Internal medicine, Lactic acidosis, medicine, Humans, Reye Syndrome, Acidosis, Lactic, business, Child, Liver Failure, Dihydrolipoamide Dehydrogenase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc69145711598ccadb1606c7dc7845b
https://pubmed.ncbi.nlm.nih.gov/32746465