Index | PMID | Date | Reference |
---|---|---|---|
1 | 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 . |