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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