Index | PMID | Date | Reference |
---|---|---|---|
1 | 19124644 | 2009 | Lopez-Gallardo, E., Solano, A., Herrero-Martin, M. D., Martinez-Romero, I., Castano-Perez, M. D., Andreu, A. L., Herrera, A., Lopez-Perez, M. J., Ruiz-Pesini, E., Montoya, J. (2009) NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein Journal of Medical Genetics . 46 (1): 64-67 . |
2 | 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 . |
3 | 32042910 | 2020 | Bugiardini, E., Bottani, E., Marchet, S., Poole, O. V., Beninca, C., Horga, A., Woodward, C., Lam, A., Hargreaves, I., Chalasani, A., Valerio, A., Lamantea, E., Venner, K., Holton, J. L., Zeviani, M., Houlden, H., Quinlivan, R., Lamperti, C., Hanna, M. G., Pitceathly, R. D. S. (2020) Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations Neurology. Genetics . 6 (1): e381 . |
4 | 34732400 | 2021 | Schon, K. R., Horvath, R., Wei, W., Calabrese, C., Tucci, A., Ibanez, K., Ratnaike, T., Pitceathly, R. D. S., Bugiardini, E., Quinlivan, R., Hanna, M. G., Clement, E., Ashton, E., Sayer, J. A., Brennan, P., Josifova, D., Izatt, L., Fratter, C., Nesbitt, V., Barrett, T., McMullen, D. J., Smith, A., Deshpande, C., Smithson, S. F., Festenstein, R., Canham, N., Caulfield, M., Houlden, H., Rahman, S., Chinnery, P. F., Genomics England Research Consortium (2021) Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study BMJ: British Medical Journal . 375 (): e066288 . |