| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 8554662 | 1995 | De Meirleir, L., Seneca, S., Lissens, W., Schoentjes, E., Desprechins, B. (1995) Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene Pediatric Neurology . 13 (3): 242-246 . |
| 2 | 18620007 | 2009 | Kucharczyk, R., Zick, M., Bietenhader, M., Rak, M., Couplan, E., Blondel, M., Caubet, S. D., di Rago, J. P. (2009) Mitochondrial ATP synthase disorders: molecular mechanisms and the quest for curative therapeutic approaches Biochimica et Biophysica Acta . 1793 (1): 186-199 . |
| 3 | 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 . |
| 4 | 21470976 | 2011 | Guerra, F., Kurelac, I., Cormio, A., Zuntini, R., Amato, L. B., Ceccarelli, C., Santini, D., Cormio, G., Fracasso, F., Selvaggi, L., Resta, L., Attimonelli, M., Gadaleta, M. N., Gasparre, G. (2011) Placing mitochondrial DNA mutations within the progression model of type I endometrial carcinoma Human Molecular Genetics . 20 (12): 2394-2405 . |
| 5 | 23206802 | 2013 | Honzik, T., Tesarova, M., Vinsova, K., Hansikova, H., Magner, M., Kratochvilova, H., Zamecnik, J., Zeman, J., Jesina, P. (2013) Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene Molecular Genetics and Metabolism 108 (1): 102-105 . |
| 6 | 24002810 | 2013 | Kang, L., Zheng, H. X., Chen, F., Yan, S., Liu, K., Qin, Z., Liu, L., Zhao, Z., Li, L., Wang, X., He, Y., Jin, L. (2013) mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. [Supplementary Materials online.] Molecular Biology and Evolution . 30 (12): 2579-2587 . |
| 7 | 29253894 | 2017 | Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 . |
| 8 | 30763462 | 2019 | Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 . |
| 9 | 32652755 | 2020 | Wong, L. C., Chen, T., Schmitt, E. S., Wang, J., Tang, S., Landsverk, M., Li, F., Zhang, S., Wang, Y., Zhang, V. W., Craigen, W. J. (2020) Clinical and laboratory interpretation of mitochondrial mRNA variants Human Mutatation . 41 (10): . |