Sex differences in brain mitochondrial metabolism: influence of endogenous steroids and stroke
Gaignard, P., Fréchou, M., Liere, P., Thérond, P., Schumacher, M., Slama, A., Guennoun, R.
Published in Journal of neuroendocrinology (01.02.2018)
Published in Journal of neuroendocrinology (01.02.2018)
Get full text
Journal Article
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients
Lebigot, E., Gaignard, P., Dorboz, I., Slama, A., Rio, M., de Lonlay, P., Héron, B., Sabourdy, F., Boespflug-Tanguy, O., Cardoso, A., Habarou, F., Ottolenghi, C., Thérond, P., Bouton, C., Golinelli-Cohen, M.P., Boutron, A.
Published in Molecular genetics and metabolism (01.11.2017)
Published in Molecular genetics and metabolism (01.11.2017)
Get full text
Journal Article
Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review
Chavany, J., Cano, A., Roquelaure, B., Bourgeois, P., Boubnova, J., Gaignard, P., Hoebeke, C., Reynaud, R., Rhomer, B., Slama, A., Badens, C., Chabrol, B., Fabre, A.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2020)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.04.2020)
Get full text
Journal Article
Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein
Lebigot, E., Hully, M., Amazit, L., Gaignard, P., Michel, T., Rio, M., Lombès, M., Thérond, P., Boutron, A., Golinelli-Cohen, M.P.
Published in Mitochondrion (01.05.2020)
Published in Mitochondrion (01.05.2020)
Get full text
Journal Article
Mitochondrial neurogastrointestinal encephalopathy disease
Benureau, A, Meyer, P, Maillet, O, Leboucq, N, Legras, S, Jeziorski, E, Fournier-Favre, S, Jeandel, C, Gaignard, P, Slama, A, Rivier, F, Roubertie, A, Carneiro, M
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.12.2014)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.12.2014)
Get full text
Journal Article
L’encéphalomyopathie neuro-gastro-intestinale mitochondriale : un tableau d’anorexie mentale atypique
Benureau, A., Meyer, P., Maillet, O., Leboucq, N., Legras, S., Jeziorski, E., Fournier-Favre, S., Jeandel, C., Gaignard, P., Slama, A., Rivier, F., Roubertie, A., Carneiro, M.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.12.2014)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.12.2014)
Get full text
Journal Article
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Vogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnyte, Birute, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel, Howard, Caoimhe, Hughes, Joanne, Konstantopoulou, Vassiliki, Kose, Melis, Kerr, Marina, Khan, Aneal, Lenz, Dominic, McFarland, Robert, Margolis, Merav Gil, Morrison, Kevin, Müller, Thomas, Murayama, Kei, Nicastro, Emanuele, Pennisi, Alessandra, Peters, Heidi, Piekutowska-Abramczuk, Dorota, Rötig, Agnès, Santer, René, Scaglia, Fernando, Schiff, Manuel, Shagrani, Mohmmad, Sharrard, Mark, Soler-Alfonso, Claudia, Staufner, Christian, Storey, Imogen, Stormon, Michael, Taylor, Robert W., Thorburn, David R., Teles, Elisa Leao, Wang, Jian-She, Weghuber, Daniel, Wortmann, Saskia
Published in Genetics in medicine (01.06.2023)
Published in Genetics in medicine (01.06.2023)
Get full text
Journal Article
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
Bannwarth, Sylvie, Procaccio, Vincent, Lebre, Anne Sophie, Jardel, Claude, Chaussenot, Annabelle, Hoarau, Claire, Maoulida, Hassani, Charrier, Nathanaël, Gai, Xiaowu, Xie, Hongbo M, Ferre, Marc, Fragaki, Konstantina, Hardy, Gaëlle, Mousson de Camaret, Bénédicte, Marlin, Sandrine, Dhaenens, Claire Marie, Slama, Abdelhamid, Rocher, Christophe, Paul Bonnefont, Jean, Rötig, Agnès, Aoutil, Nadia, Gilleron, Mylène, Desquiret-Dumas, Valérie, Reynier, Pascal, Ceresuela, Jennifer, Jonard, Laurence, Devos, Aurore, Espil-Taris, Caroline, Martinez, Delphine, Gaignard, Pauline, Le Quan Sang, Kim-Hanh, Amati-Bonneau, Patrizia, Falk, Marni J, Florentz, Catherine, Chabrol, Brigitte, Durand-Zaleski, Isabelle, Paquis-Flucklinger, Véronique
Published in Journal of medical genetics (01.10.2013)
Published in Journal of medical genetics (01.10.2013)
Get full text
Journal Article