| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 19252805 | 2009 | Horvath, R., Bender, A., Abicht, A., Holinski-Feder, E., Czermin, B., Trips, T., Schneiderat, P., Lochmuller, H., Klopstock, T. (2009) Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia Journal of Neurology . 256 (5): 810-815 . |
| 2 | 21540128 | 2011 | Glatz, C., D'Aco, K., Smith, S., Sondheimer, N. (2011) Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes Mitochondrion . 11 (4): 615-619 . |
| 3 | 23463613 | 2013 | Tang, S., Wang, J., Zhang, W., Li, F., Landsverk, M., Cui, H., Truong, C., Wang, G., Li, C., Graham, B., Scaglia, F., Schmitt, E. S., Craigen, W. J., Wong, L. C. (2013) Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects Human Mutation . 34 (6): 882-893 Most reported SNVs are not found in the body of the paper itself but are listed in the supplemental information as Unclassified Variants. |
| 4 | 29428506 | 2018 | Ganetzky, R. D., Falk, M. J. (2018) 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease Molecular Genetics and Metabolism . 123 (3): 301-308 . |
| 5 | 30709774 | 2019 | Uittenbogaard, M., Wang, H., Zhang, V. W., Wong, L. J., Brantner, C. A., Gropman, A., Chiaramello, A. (2019) The nuclear background influences the penetrance of the near-homoplasmic m.1630 A>G MELAS variant in a symptomatic proband and asymptomatic mother Molecular Genetics and Metabolism . 126 (4): 429-438 . |
| 6 | 30809469 | 2019 | Finsterer, J. (2019) Pathogenicity of the m.1630A>G variant remains elusive if related mutation carriers with similar heteroplasmy rates are asymptomatic Molecular Genetics and Metabolism Reports . 19 (): 100461 . |
| 7 | 30815362 | 2019 | Gropman, A., Chiaramello, A. (2019) The importance of the nuclear background on the phenotypic signature caused by the MELAS m.1630 A>G variant Molecular Genetics and Metabolism Reports . 19 (): 100462 . |
| 8 | 31181796 | 2019 | Kwon, S., Kim, S. S., Nebeck, H. E., Ahn, E. H. (2019) Immortalization of different breast epithelial cell types results in distinct mitochondrial mutagenesis International Journal of Molecular Sciences . 20 (11): 2813 . |
| 9 | 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 . |