Index | PMID | Date | Reference |
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1 | 16196519 | 2005 | Abu-Amero, K. K., Bosley, T. M. (2005) Detection of mitochondrial respiratory dysfunction in circulating lymphocytes using resazurin Archives of Pathology and Laboratory Medicine . 129 (10): 1295-1298 . |
2 | 18495510 | 2008 | Brautbar, A., Wang, J., Abdenur, J. E., Chang, R. C., Thomas, J. A., Grebe, T. A., Lim, C., Weng, S. W., Graham, B. H., Wong, L. J. (2008) The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle Molecular Genetics and Metabolism . 94 (4): 485-490 . |
3 | 30763462 | 2019 | Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 . |
4 | 34037856 | 2021 | Nolte, D., Kang, J. S., Hofmann, A., Schwaab, E., Kramer, H. H., Muller, U. (2021) Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia Journal of Neurology . 268 (12): 4866-4873 . |