Index | PMID | Date | Reference |
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1 | 9450773 | 1998 | Tiranti, V., D'Agruma, L., Pareyson, D., Mora, M., Carrara, F., Zelante, L., Gasparini, P., Zeviani, M. (1998) A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation Annals of Neurology . 43 (1): 98-101 . |
2 | 12056939 | 2002 | Sacconi, S., Salviati, L., Gooch, C., Bonilla, E., Shanske, S., DiMauro, S. (2002) Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA Archives of Neurology . 59 (6): 1013-1015 . |
3 | 20064630 | 2010 | Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 . |
4 | 29340697 | 2018 | Valiente-Palleja, A., Torrell, H., Muntane, G., Cortes, M. J., Martinez-Leal, R., Abasolo, N., Alonso, Y., Vilella, E., Martorell, L. (2018) Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability Human Molecular Genetics . 27 (5): 891-900 . |
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 . |