Universität zu Köln

Journal Article

Hallmann, Kerstin, Kudin, Alexei P., Zsurka, Gabor ORCID: 0000-0002-6379-849X, Kornblum, Cornelia, Reimann, Jens, Stueve, Burkhard, Waltz, Stephan, Hattingen, Elke ORCID: 0000-0002-8392-9004, Thiele, Holger, Nuernberg, Peter, Rueb, Cornelia, Voos, Wolfgang, Kopatz, Jens, Neumann, Harald and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2016). Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. Brain, 139. S. 338 - 346. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Hallmann, Kerstin, Zsurka, Gabor ORCID: 0000-0002-6379-849X, Moskau-Hartmann, Susanna, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Korinthenberg, Rudolf ORCID: 0000-0002-4638-3460, Ruppert, Ann-Kathrin, Ozdemir, Ozkan, Weber, Yvonne, Becker, Felicitas, Lerche, Holger, Elger, Christian E., Thiele, Holger, Nuernberg, Peter, Sander, Thomas and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2014). A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology, 83 (23). S. 2183 - 2188. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Hippen, Marius, Zsurka, Gabor ORCID: 0000-0002-6379-849X, Peeva, Viktoriya, Machts, Judith, Schwiecker, Kati, Debska-Vielhaber, Grazyna, Wiesner, Rudolf J., Vielhaber, Stefan and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2022). Novel Pathogenic Sequence Variation m.5789T > C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome. Neurol.-Genet., 8 (2). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2376-7839

Kudin, Alexei P., Baron, Gregor, Zsurka, Gabor ORCID: 0000-0002-6379-849X, Hampel, Kevin G., Elger, Christian E., Grote, Alexander, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Nuernberg, Peter, Schulz, Herbert, Ruppert, Ann-Kathrin, Sander, Thomas, Cheng, Qing, Arner, Elias S. J., Schomburg, Lutz, Seeher, Sandra, Fradejas-Villar, Noelia, Schweizer, Ulrich ORCID: 0000-0003-1380-4780 and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2017). Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy. Free Radic. Biol. Med., 106. S. 270 - 278. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1873-4596

Peeva, Viktoriya, Blei, Daniel, Trombly, Genevieve, Corsi, Sarah ORCID: 0000-0002-8680-7870, Szukszto, Maciej J., Rebelo-Guiomar, Pedro, Gammage, Payam A., Kudin, Alexei P., Becker, Christian, Altmueller, Janine, Minczuk, Michal, Zsurka, Gabor ORCID: 0000-0002-6379-849X and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2018). Linear mitochondrial DNA is rapidly degraded by components of the replication machinery. Nat. Commun., 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Volmering, Elisa, Niehusmann, Pitt, Peeva, Viktoriya, Grote, Alexander, Zsurka, Gabor ORCID: 0000-0002-6379-849X, Altmueller, Janine, Nuernberg, Peter, Becker, Albert J., Schoch, Susanne, Elger, Christian E. and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2016). Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy. Acta Neuropathol., 132 (2). S. 277 - 289. NEW YORK: SPRINGER. ISSN 1432-0533