Characterization of two iPSC lines from patients with maternally inherited leigh (MILS) and neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome carrying the MT-ATP6 m.8993... by Anna Maria Haschke, Sebastian Diecke, Markus Schuelke

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Met and Cxcr4 cooperate to protect skeletal muscle stem cells against inflammation-induced damage during regeneration by Ines Lahmann, Joscha Griger, Jie-Shin Chen, Yao Zhang, Markus Schuelke, Carmen Birchmeier

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RNA-based generation of iPSCs from a boy carrying the mutation m.9185 T>C in the mitochondrial gene MT-ATP6 and from his healthy mother by Tabea Steiner, Annika Zink, Marie-Therese Henke, Giulia Cecchetto, Miriam Buenning, Andrea Rossi, Markus Schuelke, Alessandro Prigione

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Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome). by Anja Brinckmann, Claudia Weiss, Friederike Wilbert, Arpad von Moers, Angelika Zwirner, Gisela Stoltenburg-Didinger, Ekkehard Wilichowski, Markus Schuelke

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Hodgkin Lymphoma Cell Lines and Tissues Express mGluR5: A Potential Link to Ophelia Syndrome and Paraneoplastic Neurological Disease by Sofia Schnell, Ellen Knierim, Petra Bittigau, Jakob Kreye, Kathrin Hauptmann, Patrick Hundsdoerfer, Susanne Morales-Gonzalez, Markus Schuelke, Marc Nikolaus

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Diagnosis of Taenia solium infections based on "mail order" RNA-sequencing of single tapeworm egg isolates from stool samples. by Henrik Sadlowski, Veronika Schmidt, Jonathan Hiss, Johannes A Kuehn, Christian G Schneider, Gideon Zulu, Alex Hachangu, Chummy S Sikasunge, Kabemba E Mwape, Andrea S Winkler, Markus Schuelke

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Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway by Marcello Ziosi, Ivano Di Meo, Giulio Kleiner, Xing‐Huang Gao, Emanuele Barca, Maria J Sanchez‐Quintero, Saba Tadesse, Hongfeng Jiang, Changhong Qiao, Richard J Rodenburg, Emmanuel Scalais, Markus Schuelke, Belinda Willard, Maria Hatzoglou, Valeria Tiranti, Catarina M Quinzii

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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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Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome by Daphne J. Smits, Jordy Dekker, Hannie Douben, Rachel Schot, Helen Magee, Somayeh Bakhtiari, Katrin Koehler, Angela Huebner, Markus Schuelke, Hossein Darvish, Shohreh Vosoogh, Abbas Tafakhori, Melika Jameie, Ehsan Taghiabadi, Yana Wilson, Margit Shah, Marjon A. van Slegtenhorst, Evita G. Medici-van den Herik, Tjakko J. van Ham, Michael C. Kruer, Grazia M.S. Mancini

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Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease by Marlene Panzer, André Viveiros, Benedikt Schaefer, Nadja Baumgartner, Klaus Seppi, Atbin Djamshidian, Theodor Todorov, William J. H. Griffiths, Eckart Schott, Markus Schuelke, Dennis Eurich, Albert Friedrich Stättermayer, Adrian Bomford, Pierre Foskett, Julia Vodopiutz, Rudolf Stauber, Elke Pertler, Bernhard Morell, Herbert Tilg, Thomas Müller, Stefan Kiechl, Raul Jimenez‐Heredia, Karl Heinz Weiss, Si Houn Hahn, Andreas Janecke, Peter Ferenci, Heinz Zoller

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