Index | PMID | Date | Reference |
---|---|---|---|
1 | 22231385 | 2012 | Honzik, T., Tesarova, M., Magner, M., Mayr, J., Jesina, P., Vesela, K., Wenchich, L., Szentivanyi, K., Hansikova, H., Sperl, W., Zeman, J. (2012) Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis Journal of Inherited Metabolic Disease 35 (5): 749-759 . |
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 | 32652755 | 2020 | Wong, L. C., Chen, T., Schmitt, E. S., Wang, J., Tang, S., Landsverk, M., Li, F., Zhang, S., Wang, Y., Zhang, V. W., Craigen, W. J. (2020) Clinical and laboratory interpretation of mitochondrial mRNA variants Human Mutation . 41 (10): . |