Index | PMID | Date | Reference |
---|---|---|---|
1 | 11601507 | 2001 | Wibrand, F., Ravn, K., Schwartz, M., Rosenberg, T., Horn, N., Vissing, J. (2001) Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene Annals of Neurology . 50 (4): 540-543 . |
2 | 21457906 | 2011 | Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 . |
3 | 23376095 | 2013 | Krag, T. O., Hauerslev, S., Jeppesen, T. D., Duno, M., Vissing, J. (2013) Muscle regeneration in mitochondrial myopathies Mitochondrion . 13 (2): 63-70 . |
4 | 23418307 | 2013 | Ghelli, A., Tropeano, C. V., Calvaruso, M. A., Marchesini, A., Iommarini, L., Porcelli, A. M., Zanna, C., De Nardo, V., Martinuzzi, A., Wibrand, F., Vissing, J., Kurelac, I., Gasparre, G., Selamoglu, N., Daldal, F., Rugolo, M. (2013) The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes Human Molecular Genetics . 22 (11): 2141-2151 . |
5 | NA | 2020 | Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 . |