Challenges of palliative care in children with inborn metabolic diseases by Jessica I. Hoell, Jens Warfsmann, Felix Distelmaier, Arndt Borkhardt, Gisela Janßen, Michaela Kuhlen

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Generation of an induced pluripotent stem cell line (IUFi002-A) from a Leigh syndrome patient carrying mutations in the NDUFS1 gene by Onofrio Valente, Jochen Dobner, Haribaskar Ramachandran, Barbara Hildebrandt, Felix Distelmaier, Natascia Ventura, Andrea Rossi

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mtDNA analysis using Mitopore by Jochen Dobner, Thach Nguyen, Mario Gustavo Pavez-Giani, Lukas Cyganek, Felix Distelmaier, Jean Krutmann, Alessandro Prigione, Andrea Rossi

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Mesenchymal stem cells improve redox homeostasis and mitochondrial respiration in fibroblast cell lines with pathogenic MT-ND3 and MT-ND6 variants by Tharsini Navaratnarajah, Marlen Bellmann, Annette Seibt, Ruchika Anand, Özer Degistirici, Roland Meisel, Ertan Mayatepek, Andreas Reichert, Fabian Baertling, Felix Distelmaier

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LEIGH SYNDROME DRUG DISCOVERY WITH INDUCED NEURONS AND MIDBRAIN ORGANOIDS UNVEILS A REPOSITIONABLE COMPOUND by Carmen Menacho, Satoshi Okawa, Laura Petersilie, Annette Seibt, Markus Schülke, Felix Distelmaier, Christine R. Rose, Antonio Del Sol, Alessandro Prigione

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C. elegans ATAD-3 is essential for mitochondrial activity and development. by Michael Hoffmann, Nadège Bellance, Rodrigue Rossignol, Werner J H Koopman, Peter H G M Willems, Ertan Mayatepek, Olaf Bossinger, Felix Distelmaier

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Neuroimaging in Primary Coenzyme-Q₁₀-Deficiency Disorders by Juliane Münch, Jannik Prasuhn, Lucia Laugwitz, Cheuk-Wing Fung, Brian H.-Y. Chung, Marcello Bellusci, Ertan Mayatepek, Dirk Klee, Felix Distelmaier

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Neuroligin-mediated neurodevelopmental defects are induced by mitochondrial dysfunction and prevented by lutein in C. elegans by Silvia Maglioni, Alfonso Schiavi, Marlen Melcher, Vanessa Brinkmann, Zhongrui Luo, Anna Laromaine, Nuno Raimundo, Joel N. Meyer, Felix Distelmaier, Natascia Ventura

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Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells by Marlen Melcher, Katharina Danhauser, Annette Seibt, Özer Degistirici, Fabian Baertling, Arun Kumar Kondadi, Andreas S. Reichert, Werner J. H. Koopman, Peter H. G. M. Willems, Richard J. Rodenburg, Ertan Mayatepek, Roland Meisel, Felix Distelmaier

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O17: GestaltMatcher supports classification of ultra-rare disorders and delineation of novel syndromes by facial phenotype descriptors* by Hannah Klinkhammer, Hellen Lesmann, Shahida Moosa, Alexander Hustinx, Behnam Javanmardi, Jing-Mei Li, Martin M.C. Chui, Christopher C.Y. Mak, Luisa Averdunk, Felix Distelmaier, Brian Hon-Yin Chung, Peter Krawitz, Tzung-Chien Hsieh

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CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome by Marta Luna‐Sánchez, Agustín Hidalgo‐Gutiérrez, Tatjana M Hildebrandt, Julio Chaves‐Serrano, Eliana Barriocanal‐Casado, Ángela Santos‐Fandila, Miguel Romero, Ramy KA Sayed, Juan Duarte, Holger Prokisch, Markus Schuelke, Felix Distelmaier, Germaine Escames, Darío Acuña‐Castroviejo, Luis C López

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Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier by Bigna K. Bölsterli, Eugen Boltshauser, Luigi Palmieri, Johannes Spenger, Michaela Brunner-Krainz, Felix Distelmaier, Peter Freisinger, Tobias Geis, Andrea L. Gropman, Johannes Häberle, Julia Hentschel, Bruno Jeandidier, Daniela Karall, Boris Keren, Annick Klabunde-Cherwon, Vassiliki Konstantopoulou, Raimund Kottke, Francesco M. Lasorsa, Christine Makowski, Cyril Mignot, Ruth O’Gorman Tuura, Vito Porcelli, René Santer, Kuntal Sen, Katja Steinbrücker, Steffen Syrbe, Matias Wagner, Andreas Ziegler, Thomas Zöggeler, Johannes A. Mayr, Holger Prokisch, Saskia B. Wortmann

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The long non-coding RNA HOTAIRM1 promotes tumor aggressiveness and radiotherapy resistance in glioblastoma by Ulvi Ahmadov, Daniel Picard, Jasmin Bartl, Manuela Silginer, Marija Trajkovic-Arsic, Nan Qin, Lena Blümel, Marietta Wolter, Jonathan K. M. Lim, David Pauck, Alina Marie Winkelkotte, Marlen Melcher, Maike Langini, Viktoria Marquardt, Felix Sander, Anja Stefanski, Sascha Steltgens, Christina Hassiepen, Anna Kaufhold, Frauke-Dorothee Meyer, Annette Seibt, Lara Kleinesudeik, Anika Hain, Carsten Münk, Christiane Brigitte Knobbe-Thomsen, Alexander Schramm, Ute Fischer, Gabriel Leprivier, Kai Stühler, Simone Fulda, Jens T. Siveke, Felix Distelmaier, Arndt Borkhardt, Michael Weller, Patrick Roth, Guido Reifenberger, Marc Remke

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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish by Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph Hersh, Sedat Isikay, Elizabeth Jordan, Ender Karaca, Angela Kecskes, James R. Lupski, Reka Kovacs-Nagy, Patrick May, Vinodh Narayanan, Manuela Pendziwiat, Keri Ramsey, Sampathkumar Rangasamy, Deepali N. Shinde, Ronen Spiegel, Vincent Timmerman, Sarah von Spiczak, Ingo Helbig, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Sarah Weckhuysen, Christopher Francklyn, Anthony Antonellis, Peter de Witte, Peter De Jonghe

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

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