Index | PMID | Date | Reference |
---|---|---|---|
1 | 24986921 | 2014 | Lopez-Gallardo, E., Emperador, S., Solano, A., Llobet, L., Martin-Navarro, A., Lopez-Perez, M. J., Briones, P., Pineda, M., Artuch, R., Barraquer, E., Jerico, I., Ruiz-Pesini, E., Montoya, J. (2014) Expanding the clinical phenotypes of MT-ATP6 mutations Human Molecular Genetics . 23 (23): 6191-6200 . |
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 | 32581362 | 2020 | Turro, E., Astle, W. J., Megy, K., Graf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., Stephens, J., Mapeta, R., Burren, O. S., Downes, K., Haimel, M., Tuna, S., Deevi, S. V. V., Aitman, T. J., Bennett, D. L., Calleja, P., Carss, K., Caulfield, M. J., Chinnery, P. F., Dixon, P. H., Gale, D. P., James, R., Koziell, A., Laffan, M. A., Levine, A. P., Maher, E. R., Markus, H. S., Morales, J., Morrell, N. W., Mumford, A. D., Ormondroyd, E., Rankin, S., Rendon, A., Richardson, S., Roberts, I., Roy, N. B. A., Saleem, M. A., Smith, K. G. C., Stark, H., Tan, R. Y. Y., Themistocleous, A. C., Thrasher, A. J., Watkins, H., Webster, A. R., Wilkins, M. R., Williamson, C., Whitworth, J., Humphray, S., Bentley, D. R., Nihr BioResource for the, G. P., Kingston, N., Walker, N., Bradley, J. R., Ashford, S., Penkett, C. J., Freson, K., Stirrups, K. E., Raymond, F. L., Ouwehand, W. H. (2020) Whole-genome sequencing of patients with rare diseases in a national health system Nature . 583 (7814): 96-102, supplementary data table 2. . |
4 | 32931937 | 2020 | Knight, K. M., Shelkowitz, E., Larson, A. A., Mirsky, D. M., Wang, Y., Chen, T., Wong, L. J., Friederich, M. W., Van Hove, J. L. K. (2020) The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome Mitochondrion . 55 (): 8-13 . |