Index | PMID | Date | Reference |
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1 | 12760436 | 2003 | Bruno, C., Sacco, O., Santorelli, F. M., Assereto, S., Tonoli, E., Bado, M., Rossi, G. A., Minetti, C. (2003) Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene Journal of Child Neurology . 18 (4): 300-303 . |
2 | 16773565 | 2006 | Saxena, R., de Bakker, P. I., Singer, K., Mootha, V., Burtt, N., Hirschhorn, J. N., Gaudet, D., Isomaa, B., Daly, M. J., Groop, L., Ardlie, K. G., Altshuler, D. (2006) Comprehensive association testing of common mitochondrial DNA variation in metabolic disease American Journal of Human Genetics . 79 (1): 54-61 . |
3 | 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 . |
4 | 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 . |