Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing von Bris, Céline, Goudenege, David, Desquiret-Dumas, Valérie, Charif, Majida, Colin, Estelle, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy, Reynier, Pascal, Procaccio, Vincent

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Stable and Local Reservoirs of Mycobacterium ulcerans Inferred from the Nonrandom Distribution of Bacterial Genotypes, Benin von Coudereau, Clement, Besnard, Alban, Robbe-Saule, Marie, Bris, Celine, Kempf, Marie, Johnson, Roch Christian, Brou, Telesphore Yao, Gnimavo, Ronald, Eyangoh, Sara, Khater, Fida, Marion, Estelle

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OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases von Sturm, Gabriel, Karan, Kalpita R., Monzel, Anna S., Santhanam, Balaji, Taivassalo, Tanja, Bris, Céline, Ware, Sarah A., Cross, Marissa, Towheed, Atif, Higgins-Chen, Albert, McManus, Meagan J., Cardenas, Andres, Lin, Jue, Epel, Elissa S., Rahman, Shamima, Vissing, John, Grassi, Bruno, Levine, Morgan, Horvath, Steve, Haller, Ronald G., Lenaers, Guy, Wallace, Douglas C., St-Onge, Marie-Pierre, Tavazoie, Saeed, Procaccio, Vincent, Kaufman, Brett A., Seifert, Erin L., Hirano, Michio, Picard, Martin

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OPA1 -related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology von Chao de la Barca, Juan Manuel, Prunier-Mirebeau, Delphine, Amati-Bonneau, Patrizia, Ferré, Marc, Sarzi, Emmanuelle, Bris, Céline, Leruez, Stéphanie, Chevrollier, Arnaud, Desquiret-Dumas, Valérie, Gueguen, Naïg, Verny, Christophe, Hamel, Christian, Miléa, Dan, Procaccio, Vincent, Bonneau, Dominique, Lenaers, Guy, Reynier, Pascal

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Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy von Charif, Majida, Bris, Celine, Goudenege, David, Desquiret-Dumas, Valerie, Colin, Estelle, Ziegler, Alban, Procaccio, Vincent, Reynier, Pascal, Bonneau, Dominique, Lenaers, Guy, Amati-Bonneau, Patrizia

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ACO2 clinicobiological dataset with extensive phenotype ontology annotation von Guehlouz, Khadidja, Foulonneau, Thomas, Amati-Bonneau, Patrizia, Charif, Majida, Colin, Estelle, Bris, Céline, Desquiret-Dumas, Valérie, Milea, Dan, Gohier, Philippe, Procaccio, Vincent, Bonneau, Dominique, den Dunnen, Johan T., Lenaers, Guy, Reynier, Pascal, Ferré, Marc

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A multi-omics longitudinal aging dataset in primary human fibroblasts with mitochondrial perturbations von Sturm, Gabriel, Monzel, Anna S., Karan, Kalpita R., Michelson, Jeremy, Ware, Sarah A., Cardenas, Andres, Lin, Jue, Bris, Céline, Santhanam, Balaji, Murphy, Michael P., Levine, Morgan E., Horvath, Steve, Belsky, Daniel W., Wang, Shuang, Procaccio, Vincent, Kaufman, Brett A., Hirano, Michio, Picard, Martin

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First characterization of LHON pedigrees in North Africa von Bouzidi, Aymane, Aboussair, Nisrine, Charif, Majida, Amalou, Ghita, Goudenège, David, Desquiret-Dumas, Valérie, Bris, Céline, Sifeddine, Najat, Nahili, Halima, Elqabli, Meriem, Dafir, Kenza, Kandil, Mostafa, Amati-Bonneau, Patrizia, Procaccio, Vincent, Barakat, Abdelhamid, Lenaers, Guy

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Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder von Tessarech, Marine, Gorce, Magali, Boussion, Françoise, Bault, Jean‐Philippe, Triau, Stéphane, Charif, Majida, Khiaty, Salim, Delorme, Benoit, Guichet, Agnès, Ziegler, Alban, Bris, Céline, Laquerrière, Annie, Fallet‐Bianco, Catherine, Jacquette, Aurélia, Salhi, Houria, Héron, Delphine, Reynier, Pascal, Procaccio, Vincent, Bonneau, Dominique, Colin, Estelle

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Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish von Fasano, Giulia, Muto, Valentina, Radio, Francesca Clementina, Venditti, Martina, Mosaddeghzadeh, Niloufar, Coppola, Simona, Paradisi, Graziamaria, Zara, Erika, Bazgir, Farhad, Ziegler, Alban, Chillemi, Giovanni, Bertuccini, Lucia, Tinari, Antonella, Vetro, Annalisa, Pantaleoni, Francesca, Pizzi, Simone, Conti, Libenzio Adrian, Petrini, Stefania, Bruselles, Alessandro, Prandi, Ingrid Guarnetti, Mancini, Cecilia, Chandramouli, Balasubramanian, Barth, Magalie, Bris, Céline, Milani, Donatella, Selicorni, Angelo, Macchiaiolo, Marina, Gonfiantini, Michaela V., Bartuli, Andrea, Mariani, Riccardo, Curry, Cynthia J., Guerrini, Renzo, Slavotinek, Anne, Iascone, Maria, Dallapiccola, Bruno, Ahmadian, Mohammad Reza, Lauri, Antonella, Tartaglia, Marco

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Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases von Felhi, Rahma, Charif, Majida, Sfaihi, Lamia, Mkaouar-Rebai, Emna, Desquiret-Dumas, Valerie, Kallel, Rim, Bris, Céline, Goudenège, David, Guichet, Agnès, Bonneau, Dominique, Procaccio, Vincent, Reynier, Pascal, Amati-Bonneau, Patrizia, Hachicha, Mongia, Fakhfakh, Faiza, Lenaers, Guy

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Long-Term Persistence of Mitochondrial DNA Instability in HIV-Exposed Uninfected Children during and after Exposure to Antiretroviral Drugs and HIV von Desquiret-Dumas, Valérie, D’Ottavi, Morgana, Monnin, Audrey, Goudenège, David, Méda, Nicolas, Vizeneux, Amélie, Kankasa, Chipepo, Tylleskar, Thorkild, Bris, Céline, Procaccio, Vincent, Nagot, Nicolas, Van de Perre, Philippe, Reynier, Pascal, Molès, Jean-Pierre

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Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure von Belal, Sophie, Goudenège, David, Bocca, Cinzia, Dumont, Florent, Chao De La Barca, Juan Manuel, Desquiret-Dumas, Valérie, Gueguen, Naïg, Geffroy, Guillaume, Benyahia, Rayane, Kane, Selma, Khiati, Salim, Bris, Céline, Aranyi, Tamas, Stockholm, Daniel, Inisan, Aurore, Renaud, Aurélie, Barth, Magalie, Simard, Gilles, Reynier, Pascal, Letournel, Franck, Lenaers, Guy, Bonneau, Dominique, Chevrollier, Arnaud, Procaccio, Vincent

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Primary mitochondrial disorders and mimics: Insights from a large French cohort von Rouzier, Cécile, Pion, Emmanuelle, Chaussenot, Annabelle, Bris, Céline, Ait‐El‐Mkadem Saadi, Samira, Desquiret‐Dumas, Valérie, Gueguen, Naïg, Fragaki, Konstantina, Amati‐Bonneau, Patrizia, Barcia, Giulia, Gaignard, Pauline, Steffann, Julie, Pennisi, Alessandra, Bonnefont, Jean‐Paul, Lebigot, Elise, Bannwarth, Sylvie, Francou, Bruno, Rucheton, Benoit, Sternberg, Damien, Martin‐Negrier, Marie‐Laure, Trimouille, Aurélien, Hardy, Gaëlle, Allouche, Stéphane, Acquaviva‐Bourdain, Cécile, Pagan, Cécile, Lebre, Anne‐Sophie, Reynier, Pascal, Cossee, Mireille, Attarian, Shahram, Paquis‐Flucklinger, Véronique, Procaccio, Vincent

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Cellular allostatic load is linked to increased energy expenditure and accelerated biological aging von Bobba-Alves, Natalia, Sturm, Gabriel, Lin, Jue, Ware, Sarah A., Karan, Kalpita R., Monzel, Anna S., Bris, Céline, Procaccio, Vincent, Lenaers, Guy, Higgins-Chen, Albert, Levine, Morgan, Horvath, Steve, Santhanam, Balaji S., Kaufman, Brett A., Hirano, Michio, Epel, Elissa, Picard, Martin

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eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data von Goudenège, David, Bris, Celine, Hoffmann, Virginie, Desquiret-Dumas, Valerie, Jardel, Claude, Rucheton, Benoit, Bannwarth, Sylvie, Paquis-Flucklinger, Veronique, Lebre, Anne Sophie, Colin, Estelle, Amati-Bonneau, Patrizia, Bonneau, Dominique, Reynier, Pascal, Lenaers, Guy, Procaccio, Vincent

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Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability von Ziegler, Alban, Bader, Patricia, McWalter, Kirsty, Douglas, Ganka, Houdayer, Clara, Bris, Céline, Rouleau, Stephanie, Coutant, Régis, Colin, Estelle, Bonneau, Dominique

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Metabo-lipidomics of Fibroblasts and Mitochondrial-Endoplasmic Reticulum Extracts from ALS Patients Shows Alterations in Purine, Pyrimidine, Energetic, and Phospholipid Metabolisms von Veyrat-Durebex, Charlotte, Bris, Céline, Codron, Philippe, Bocca, Cinzia, Chupin, Stéphanie, Corcia, Philippe, Vourc’h, Patrick, Hergesheimer, Rudolf, Cassereau, Julien, Funalot, Benoit, Andres, Christian R, Lenaers, Guy, Couratier, Philippe, Reynier, Pascal, Blasco, Hélène

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Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes von Zech, Michael, Kopajtich, Robert, Steinbrücker, Katja, Bris, Céline, Gueguen, Naig, Feichtinger, René G., Achleitner, Melanie T., Duzkale, Neslihan, Périvier, Maximilien, Koch, Johannes, Engelhardt, Harald, Freisinger, Peter, Wagner, Matias, Brunet, Theresa, Berutti, Riccardo, Smirnov, Dmitrii, Navaratnarajah, Tharsini, Rodenburg, Richard J.T., Pais, Lynn S, Austin‐Tse, Christina, O'Leary, Melanie, Boesch, Sylvia, Jech, Robert, Bakhtiari, Somayeh, Jin, Sheng Chih, Wilbert, Friederike, Kruer, Michael C, Wortmann, Saskia B., Eckenweiler, Matthias, Mayr, Johannes A., Distelmaier, Felix, Steinfeld, Robert, Winkelmann, Juliane, Prokisch, Holger

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Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion von Felhi, Rahma, Sfaihi, Lamia, Charif, Majida, Desquiret-Dumas, Valerie, Bris, Céline, Goudenège, David, Ammar-Keskes, Leila, Hachicha, Mongia, Bonneau, Dominique, Procaccio, Vincent, Reynier, Pascal, Amati-Bonneau, Patrizia, Lenaers, Guy, Fakhfakh, Faiza

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