Index | PMID | Date | Reference |
---|---|---|---|
1 | 15121771 | 2004 | Limongelli, A., Schaefer, J., Jackson, S., Invernizzi, F., Kirino, Y., Suzuki, T., Reichmann, H., Zeviani, M. (2004) Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome Journal of Medical Genetics . 41 (5): 342-349 . |
2 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
3 | 18977334 | 2009 | Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1787 (5): 491-501 . |
4 | 21533077 | 2011 | Moreno-Loshuertos, R., Ferrin, G., Acin-Perez, R., Gallardo, M. E., Viscomi, C., Perez-Martos, A., Zeviani, M., Fernandez-Silva, P., Enriquez, J. A. (2011) Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations PLoS Genetics . 7 (4): e1001379 . |
5 | 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 . |