Index | PMID | Date | Reference |
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1 | 20708751 | 2010 | Malfatti, E., Cardaioli, E., Battisti, C., Da Pozzo, P., Malandrini, A., Rufa, A., Rocchi, R., Federico, A. (2010) A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features Journal of the Neurological Sciences . 297 (1-2): 105-108 . |
2 | 31965079 | 2020 | Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 . |
3 | 32504279 | 2020 | Formichi, P., Cardone, N., Taglia, I., Cardaioli, E., Salvatore, S., Gerfo, A. L., Simoncini, C., Montano, V., Siciliano, G., Mancuso, M., Malandrini, A., Federico, A., Dotti, M. T. (2020) Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions Neurological Sciences . 41 (12): 3653-3662 . |