Rezultaty - Kane, Selma

Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy od Charif, Majida, Chevrollier, Arnaud, Gueguen, Naïg, Kane, Selma, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valerie, Meunier, Isabelle, Mochel, Fanny, Jeanjean, Luc, Varenne, Fanny, Procaccio, Vincent, Reynier, Pascal, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy

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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 od 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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Dominant ACO2 mutations are a frequent cause of isolated optic atrophy od Charif, Majida, Gueguen, Naïg, Ferré, Marc, Elkarhat, Zouhair, Khiati, Salim, LeMao, Morgane, Chevrollier, Arnaud, Desquiret-Dumas, Valerie, Goudenège, David, Bris, Céline, Kane, Selma, Alban, Jennifer, Chupin, Stéphanie, Wetterwald, Céline, Caporali, Leonardo, Tagliavini, Francesca, LaMorgia, Chiara, Carbonelli, Michele, Jurkute, Neringa, Barakat, Abdelhamid, Gohier, Philippe, Verny, Christophe, Barth, Magalie, Procaccio, Vincent, Bonneau, Dominique, Zanlonghi, Xavier, Meunier, Isabelle, Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Tonagel, Felix, Kellner, Ulrich, Yu-Wai-Man, Patrick, Carelli, Valerio, Wissinger, Bernd, Amati-Bonneau, Patrizia, Reynier, Pascal, Lenaers, Guy

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