Index | PMID | Date | Reference |
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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 . |