Activation of Peroxisome Proliferator-Activated Receptor Pathway Stimulates the Mitochondrial Respiratory Chain and Can Correct Deficiencies in Patients’ Cells Lacking Its Componen... von Bastin, Jean, Aubey, Flore, Rötig, Agnès, Munnich, Arnold, Djouadi, Fatima

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Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency von Fragaki, Konstantina, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Gire, Catherine, Mengual, Raymond, Bonesso, Laurent, Bénéteau, Marie, Ricci, Jean-Ehrland, Desquiret-Dumas, Valérie, Procaccio, Vincent, Rötig, Agnès, Paquis-Flucklinger, Véronique

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics von Yépez, Vicente A, Gusic, Mirjana, Kopajtich, Robert, Mertes, Christian, Smith, Nicholas H, Alston, Charlotte L, Ban, Rui, Beblo, Skadi, Berutti, Riccardo, Blessing, Holger, Ciara, Elżbieta, Distelmaier, Felix, Freisinger, Peter, Häberle, Johannes, Hayflick, Susan J, Hempel, Maja, Itkis, Yulia S, Kishita, Yoshihito, Klopstock, Thomas, Krylova, Tatiana D, Lamperti, Costanza, Lenz, Dominic, Makowski, Christine, Mosegaard, Signe, Müller, Michaela F, Muñoz-Pujol, Gerard, Nadel, Agnieszka, Ohtake, Akira, Okazaki, Yasushi, Procopio, Elena, Schwarzmayr, Thomas, Smet, Joél, Staufner, Christian, Stenton, Sarah L, Strom, Tim M, Terrile, Caterina, Tort, Frederic, Van Coster, Rudy, Vanlander, Arnaud, Wagner, Matias, Xu, Manting, Fang, Fang, Ghezzi, Daniele, Mayr, Johannes A, Piekutowska-Abramczuk, Dorota, Ribes, Antonia, Rötig, Agnès, Taylor, Robert W, Wortmann, Saskia B, Murayama, Kei, Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger

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Mutation of RRM2B , encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion von de Lonlay, Pascale, Chrétien, Dominique, Serre, Valérie, Aubert, Sophie, Jais, Jean-Philippe, Arakawa, Hirofumi, Nakamura, Yusuke, Sarzi, Emmanuelle, Munnich, Arnold, Rötig, Agnès, Minai, Limor, Bourdon, Alice, Paquis-Flucklinger, Véronique

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Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice von Pontoizeau, Clément, Simon-Sola, Marcelo, Gaborit, Clovis, Nguyen, Vincent, Rotaru, Irina, Tual, Nolan, Colella, Pasqualina, Girard, Muriel, Biferi, Maria-Grazia, Arnoux, Jean-Baptiste, Rötig, Agnès, Ottolenghi, Chris, de Lonlay, Pascale, Mingozzi, Federico, Cavazzana, Marina, Schiff, Manuel

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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies von Metodiev, Metodi D., Thompson, Kyle, Alston, Charlotte L., Morris, Andrew A.M., He, Langping, Assouline, Zarah, Rio, Marlène, Bahi-Buisson, Nadia, Pyle, Angela, Griffin, Helen, Siira, Stefan, Filipovska, Aleksandra, Munnich, Arnold, Chinnery, Patrick F., McFarland, Robert, Rötig, Agnès, Taylor, Robert W.

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Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders von Loiselet, Klervie, Ruzzenente, Benedetta, Roux, Charles‐Joris, Barcia, Giulia, Pennisi, Alessandra, Desguerre, Isabelle, Rötig, Agnès, Munnich, Arnold, Boddaert, Nathalie, Levy, Raphaël, Dangouloff‐Ros, Volodia, Grévent, David, De Lonlay, Pascale

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Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders von Mollet, Julie, Giurgea, Irina, Schlemmer, Dimitri, Dallner, Gustav, Chretien, Dominique, Delahodde, Agnès, Bacq, Delphine, de Lonlay, Pascale, Munnich, Arnold, Rötig, Agnès

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Biallelic IARS2 mutations presenting as sideroblastic anemia von Barcia, Giulia, Pandithan, Dinusha, Ruzzenente, Benedetta, Assouline, Zahra, Pennisi, Alessandra, Ormieres, Clothilde, Besmond, Claude, Roux, Charles-Joris, Boddaert, Nathalie, Desguerre, Isabelle, Thorburn, David R, Bratkovic, Drago, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès, Steffann, Julie

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Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia von Colin, Elia, Courtois, Geneviève, Brouzes, Chantal, Pulman, Juliette, Rabant, Marion, Rötig, Agnès, Taffin, Hélène, Lion-Lambert, Mathilde, Fabrega, Sylvie, Da Costa, Lydie, De Montalembert, Mariane, Salomon, Rémi, Hermine, Olivier, Couronné, Lucile

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Mitochondrial DNA Depletion is a Prevalent Cause of Multiple Respiratory Chain Deficiency in Childhood von Sarzi, Emmanuelle, Bourdon, Alice, Chrétien, Dominique, PhD, Zarhrate, Mohamed, Corcos, Johanna, Slama, Abdelhamid, MD, Cormier-Daire, Valérie, MD, PhD, de Lonlay, Pascale, MD, PhD, Munnich, Arnold, MD, PhD, Rötig, Agnès, PhD

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Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies von Lasserre, Jean-Paul, Dautant, Alain, Aiyar, Raeka S, Kucharczyk, Roza, Glatigny, Annie, Tribouillard-Tanvier, Déborah, Rytka, Joanna, Blondel, Marc, Skoczen, Natalia, Reynier, Pascal, Pitayu, Laras, Rötig, Agnès, Delahodde, Agnès, Steinmetz, Lars M, Dujardin, Geneviève, Procaccio, Vincent, di Rago, Jean-Paul

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Selective iron chelation in Friedreich ataxia: biologic and clinical implications von Boddaert, Nathalie, Le Quan Sang, Kim Hanh, Rötig, Agnès, Leroy-Willig, Anne, Gallet, Serge, Brunelle, Francis, Sidi, Daniel, Thalabard, Jean-Christophe, Munnich, Arnold, Cabantchik, Z. Ioav

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Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb von Mansour-Hendili, Lamisse, Gitiaux, Cyril, Harion, Madeleine, Latouche, Céline, Heron, Bénédicte, Stojkovic, Tanya, Rama, Mélanie, Smol, Thomas, Sophie Jourdain, Anne, Mention, Karine, Nadjar, Yann, Schiff, Manuel, Lemale, Julie, Ghoumid, Jamal, Gottrand, Frédéric, Talbotec, Cécile, Rötig, Agnès, Funalot, Benoît, Desguerre, Isabelle

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Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency von Serre, Valérie, Rozanska, Agata, Beinat, Marine, Chretien, Dominique, Boddaert, Nathalie, Munnich, Arnold, Rötig, Agnès, Chrzanowska-Lightowlers, Zofia M.

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Modeling of Antigenomic Therapy of Mitochondrial Diseases by Mitochondrially Addressed RNA Targeting a Pathogenic Point Mutation in Mitochondrial DNA von Tonin, Yann, Heckel, Anne-Marie, Vysokikh, Mikhail, Dovydenko, Ilya, Meschaninova, Mariya, Rötig, Agnès, Munnich, Arnold, Venyaminova, Alya, Tarassov, Ivan, Entelis, Nina

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Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy von Cafournet, Cérane, Zanin, Sofia, Guimier, Anne, Hully, Marie, Assouline, Zahra, Barcia, Giulia, de Lonlay, Pascale, Steffann, Julie, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès, Ruzzenente, Benedetta, Metodiev, Metodi D

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Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion von Sarzi, Emmanuelle, Goffart, Steffi, Serre, Valérie, Chrétien, Dominique, Slama, Abdelhamid, Munnich, Arnold, Spelbrink, Johannes N., Rötig, Agnès

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Human diseases with impaired mitochondrial protein synthesis von Rötig, Agnès

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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies von Metodiev, Metodi D., Thompson, Kyle, Alston, Charlotte L., Morris, Andrew A.M., He, Langping, Assouline, Zarah, Rio, Marlène, Bahi-Buisson, Nadia, Pyle, Angela, Griffin, Helen, Siira, Stefan, Filipovska, Aleksandra, Munnich, Arnold, Chinnery, Patrick F., McFarland, Robert, Rötig, Agnès, Taylor, Robert W.

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