Index | PMID | Date | Reference |
---|---|---|---|
1 | 28027978 | 2017 | Bacalhau, M., Pratas, J., Simoes, M., Mendes, C., Ribeiro, C., Santos, M. J., Diogo, L., Macario, M. C., Grazina, M. (2017) In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes European Journal of Medical Genetics . 60 (3): 172-177, additional variants in supplement . |
2 | 32715519 | 2020 | Fay, A., Garcia, Y., Margeta, M., Maharjan, S., Jurgensen, C., Briceno, J., Garcia, M., Yin, S., Bassaganyas, L., McMahon, T., Hou, Y. M., Fu, Y. H., Ptacek, L. J. (2020) A mitochondrial tRNA mutation causes axonal CMT in a large Venezuelan family Annals of Neurology . 88 (4): 830-842 . |