未登录MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathyMPC2变体破坏线粒体丙酮酸代谢并引起早发性线粒体病
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 .png)
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收藏Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemiaBecker, Pierre-Hadrien; Demir, Zeynep; Glassberg, Yael Mozer; Sevin, Caroline; Habes, Dalila; Imbard, Apolline; Mussini, Charlotte; Bar Lev, Michal Rozenfeld; Davit-Spraul, Anne; Benoist, Jean-Francois; Therond, Patrice; Slama, Abdelhamid; Jacquemin, Emmanuel; Gonzales, Emmanuel; Gaignard, Pauline 分享 收藏 Mitochondrial dysfunction caused by novel ATAD3A mutations新型ATAD3A突变引起的线粒体功能障碍Dorison, Nathalie; Gaignard, Pauline; Bayot, Aurelien; Gelot, Antoinette; Becker, Pierre Hadrien; Fourati, Salma; Lebigot, Elise; Charles, Perrine; Wai, Timothy; Therond, Patrice; Slama, Abdelhamid 分享 收藏 Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutationsBarcia, Giulia; Rio, Marlene; Assouline, Zahra; Zangarelli, Coralie; Gueguen, Naig; Dumas, Valerie D.; Marcorelles, Pascale; Schiff, Manuel; Slama, Abdelhamid; Barth, Magalie; Hully, Marie; de Lonlay, Pascale; Munnich, Arnold; Desguerre, Isabelle; Bonnefont, Jean-Paul; Steffann, Julie; Procaccio, Vincent; Boddaert, Nathalie; Rotig, Agnes; Metodiev, Metodi D.; Ruzzenente, Benedetta 分享 收藏 Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13Russell, Bianca E.; Whaley, Kaitlin G.; Bove, Kevin E.; Labilloy, Anatalia; Lombardo, Rachel C.; Hopkin, Robert J.; Leslie, Nancy D.; Prada, Carlos; Assouline, Zahra; Barcia, Giulia; Bouchereau, Juliette; Chomton, Maryline; Debray, Dominique; Dorboz, Imen; Durand, Philippe; Gaignard, Pauline; Habes, Dalila; Jardel, Claude; Labarthe, Francois; Levy, Jonathan; Lombes, Anne; Mehler-Jacob, Claire; Melki, Judith; Menvielle, Laura; Munnich, Arnold; Mussini, Charlotte; Pichard, Samia; Rio, Marlene; Rotig, Agnes; Sissaoui, Samira; Slama, Abdelhamid; Miethke, Alexander G.; Schiff, Manuel 分享 收藏 MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early DiagnosisCorazza, Giovanni; Pagan, Cecile; Hardy, Gaelle; Besson, Gerard; Lombes, Anne; Seguy, David; Acquaviva-Bourdain, Cecile; Bouhour, Francoise; Gaignard, Pauline; Slama, Abdelhamid; Roubertie, Agathe; Morales, Raul Juntas; Barth, Magalie; Cintas, Pascal; Bereau, Matthieu; Campana-Salort, Emmanuelle; de Baulny, Helene Ogier; Schiff, Manuel; Benoist, Jean-Francois; Corne, Christelle; Joly, Francisca 分享 收藏 分享 收藏 分享 收藏 Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alterationMuller, Marie; Guillaud-Bataille, Marine; Salleron, Julia; Genestie, Catherine; Deveaux, Sophie; Slama, Abdelhamid; de Paillerets, Brigitte Bressac; Richard, Stephane; Benusiglio, Patrick R.; Ferlicot, Sophie 分享 收藏 Long-term liver disease in methylmalonic and propionic acidemiasImbard, Apolline; Segarra, Nuria Garcia; Tardieu, Marine; Broue, Pierre; Bouchereau, Juliette; Pichard, Samia; de Baulny, Helene Ogier; Slama, Abdelhamid; Mussini, Charlotte; Touati, Guy; Danjoux, Marie; Gaignard, Pauline; Vogel, Hannes; Labarthe, Francois; Schiff, Manuel; Benoist, Jean-Francois 分享 收藏 分享 收藏 分享 收藏 Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patientsLebigot, E.; Gaignard, P.; Dorboz, I.; Slama, A.; Rio, M.; de Lonlay, P.; Heron, B.; Sabourdy, F.; Boespflug-Tanguy, O.; Cardoso, A.; Habarou, F.; Ottolenghi, C.; Therond, P.; Bouton, C.; Golinelli-Cohen, M. P.; Boutron, A. 分享 收藏 分享 收藏 Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal healthDuchesne, Amandine; Vaiman, Anne; Castille, Johan; Beauvallet, Christian; Gaignard, Pauline; Floriot, Sandrine; Rodriguez, Sabrina; Vilotte, Marthe; Boulanger, Laurent; Passet, Bruno; Albaric, Olivier; Guillaume, Francois; Boukadiri, Abdelhak; Richard, Laurence; Bertaud, Maud; Timsit, Edouard; Guatteo, Raphael; Jaffrezic, Florence; Calvel, Pierre; Helary, Louise; Mahla, Rachid; Esquerre, Diane; Pechoux, Christine; Liuu, Sophie; Vallat, Jean-Michel; Boichard, Didier; Slama, Abdelhamid; Vilotte, Jean-Luc 分享 收藏 QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver diseaseGuarani, Virginia; Jardel, Claude; Chretien, Dominique; Lombes, Anne; Benit, Paule; Labasse, Clemence; Lacene, Emmanuelle; Bourillon, Agnes; Imbard, Appolline; Benoist, Jean Francois; Dorboz, Imen; Gilleron, Mylene; Goetzman, Eric S.; Gaignard, Pauline; Slama, Abdelhamid; Elmaleh-Berges, Monique; Romero, Norma B.; Rustin, Pierre; de Baulny, Helene Ogier; Paulo, Joao A.; Harper, J. Wade; Schiff, Manuel 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 
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