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

Get full text

Reprogramming of two induced pluripotent stem cell clones from a patient with a novel MT-ATP6/8 mutation (m.8570 T > C) by Anna Maria Haschke, Sebastian Diecke, Harald Stachelscheid, Markus Schuelke

Get full text

Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects. by Luis C López, Catarina M Quinzii, Estela Area, Ali Naini, Shamima Rahman, Markus Schuelke, Leonardo Salviati, Salvatore Dimauro, Michio Hirano

Get full text

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

Get full text

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

Get full text

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

Get full text