Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy von Gerber, Sylvie, Lessard, Lola, Rouzier, Cécile, Ait‐el‐Mkadem Saadi, Samira, Ameli, Roxana, Thobois, Stéphane, Abouaf, Lucie, Bouhour, Françoise, Kaplan, Josseline, Putoux, Audrey, Pegat, Antoine, Rozet, Jean‐Michel

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Neurologic features and genotype-phenotype correlation in Wolfram syndrome von Chaussenot, Annabelle, Bannwarth, Sylvie, Rouzier, Cecile, Vialettes, Bernard, Mkadem, Samira Ait El, Chabrol, Brigitte, Cano, Aline, Labauge, Pierre, Paquis-Flucklinger, Véronique

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A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases von Pratella, David, Ait-El-Mkadem Saadi, Samira, Bannwarth, Sylvie, Paquis-Fluckinger, Véronique, Bottini, Silvia

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Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases von Zereg, Elamine, Chaussenot, Annabelle, Morel, Godelieve, Bannwarth, Sylvie, Sacconi, Sabrina, Soriani, Marie‐Hélène, Attarian, Shahram, Cano, Aline, Pouget, Jean, Bellance, Rémi, Tranchant, Christine, Lannes, Béatrice, Paula, André Maues, Saadi Ait‐El‐Mkadem, Samira, Chafino, Bernadette, Berthet, Mathieu, Fragaki, Konstantina, Paquis‐Flucklinger, Véronique, Rouzier, Cécile

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A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations von Serag, Mounir, Plutino, Morgane, Charles, Perrine, Azulay, Jean-Philippe, Chaussenot, Annabelle, Paquis-Flucklinger, Véronique, Ait-El-Mkadem Saadi, Samira, Rouzier, Cécile

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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement von BANNWARTH, Sylvie, AIT-EL-MKADEM, Samira, VERSCHUEREN, Annie, ROUZIER, Cecile, LE BER, Isabelle, AUGE, Gaëlle, COCHAUD, Charlotte, LESPINASSE, Françoise, N'GUYEN, Karine, DE SEPTENVILLE, Anne, BRICE, Alexis, YU-WAI-MAN, Patrick, CHAUSSENOT, Annabelle, SESAKI, Hiromi, POUGET, Jean, PAQUIS-FLUCKLINGER, Véronique, GENIN, Emmanuelle C, LACAS-GERVAIS, Sandra, FRAGAKI, Konstantina, BERG-ALONSO, Laetitia, KAGEYAMA, Yusuke, SERRE, Valérie, MOORE, David G

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Adiponectin downregulates its own production and the expression of its AdipoR2 receptor in transgenic mice von Bauche, Isabelle B., Ait El Mkadem, Samira, Rezsohazy, René, Funahashi, Tohru, Maeda, Norikazu, Miranda, Lisa Miranda, Brichard, Sonia M.

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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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ABEILLE: a novel method for ABerrant Expression Identification empLoying machine LEarning from RNA-sequencing data von Labory, Justine, Le Bideau, Gwendal, Pratella, David, Yao, Jean-Elisée, Ait-El-Mkadem Saadi, Samira, Bannwarth, Sylvie, El-Hami, Loubna, Paquis-Fluckinger, Véronique, Bottini, Silvia

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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy von Ait-El-Mkadem, Samira, Dayem-Quere, Manal, Gusic, Mirjana, Chaussenot, Annabelle, Bannwarth, Sylvie, François, Bérengère, Genin, Emmanuelle C., Fragaki, Konstantina, Volker-Touw, Catharina L.M., Vasnier, Christelle, Serre, Valérie, van Gassen, Koen L.I., Lespinasse, Françoise, Richter, Susan, Eisenhofer, Graeme, Rouzier, Cécile, Mochel, Fanny, De Saint-Martin, Anne, Abi Warde, Marie-Thérèse, de Sain-van der Velde, Monique G.M., Jans, Judith J.M., Amiel, Jeanne, Avsec, Ziga, Mertes, Christian, Haack, Tobias B., Strom, Tim, Meitinger, Thomas, Bonnen, Penelope E., Taylor, Robert W., Gagneur, Julien, van Hasselt, Peter M., Rötig, Agnès, Delahodde, Agnès, Prokisch, Holger, Fuchs, Sabine A., Paquis-Flucklinger, Véronique

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UQCRC2-related mitochondrial complex III deficiency, about 7 patients von Bansept, Claire, Gaignard, Pauline, Lebigot, Elise, Eyer, Didier, Delplancq, Geoffroy, Hoebeke, Célia, Mazodier, Karin, Ledoyen, Anaïs, Rouzier, Cécile, Fragaki, Konstantina, Ait-El-Mkadem Saadi, Samira, Philippe, Christophe, Bruel, Ange-Line, Faivre, Laurence, Feillet, François, Abi Warde, Marie-Thérèse

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NDUFS6 related Leigh syndrome: a case report and review of the literature von Rouzier, Cécile, Chaussenot, Annabelle, Fragaki, Konstantina, Serre, Valérie, Ait-El-Mkadem, Samira, Richelme, Christian, Paquis-Flucklinger, Véronique, Bannwarth, Sylvie

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Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives von Labory, Justine, Fierville, Morgane, Ait-El-Mkadem, Samira, Bannwarth, Sylvie, Paquis-Flucklinger, Véronique, Bottini, Silvia

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Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases von Plutino, Morgane, Chaussenot, Annabelle, Rouzier, Cécile, Ait-El-Mkadem, Samira, Fragaki, Konstantina, Paquis-Flucklinger, Véronique, Bannwarth, Sylvie

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FTO gene associates to metabolic syndrome in women with polycystic ovary syndrome von Attaoua, Redha, Ait El Mkadem, Samira, Radian, Serban, Fica, Simona, Hanzu, Felicia, Albu, Alice, Gheorghiu, Monica, Coculescu, Mihai, Grigorescu, Florin

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Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability von Ait-El-Mkadem Saadi, Samira, Kaphan, Elsa, Morales Jaurrieta, Amaya, Fragaki, Konstantina, Chaussenot, Annabelle, Bannwarth, Sylvie, Maues De Paula, André, Paquis-Flucklinger, Véronique, Rouzier, Cécile

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Overexpression of Adiponectin Targeted to Adipose Tissue in Transgenic Mice: Impaired Adipocyte Differentiation von Bauche, Isabelle B, El Mkadem, Samira Ait, Pottier, Anne-Marie, Senou, Maximin, Many, Marie-Christine, Rezsohazy, René, Penicaud, Luc, Maeda, Norikazu, Funahashi, Tohru, Brichard, Sonia M

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CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy von Morel, Godelieve, Rouzier, Cécile, Chaussenot, Annabelle, Ait-El-Mkadem, Samira, Bannwarth, Sylvie, Genin, Emmanuelle C., Augé, Gaëlle, Chabrol, Brigitte, Pouget, Jean, Soriani, Marie Hélène, Sacconi, Sabrina, Paquis-Flucklinger, Véronique

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Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes von Fragaki, Konstantina, Chaussenot, Annabelle, Benoist, Jean-François, Ait-El-Mkadem, Samira, Bannwarth, Sylvie, Rouzier, Cécile, Cochaud, Charlotte, Paquis-Flucklinger, Véronique

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Role of Allelic Variants Gly972Arg of IRS-1 and Gly1057Asp of IRS-2 in Moderate-to-Severe Insulin Resistance of Women With Polycystic Ovary Syndrome von SAMIRA AIT EL MKADEM, LAUTIER, Corinne, WHITE, Morris F, GRIGORESCU, Florin, MACARI, Francoise, MOLINARI, Nicolas, LEFEBVRE, Patrick, RENARD, Eric, GRIS, Jean Christophe, CROS, Gérard, DAURES, Jean Pierre, BRINGER, Jacques

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