Index | PMID | Date | Reference |
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1 | 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 . |
2 | 21364701 | 2011 | Swalwell, H., Kirby, D. M., Blakely, E. L., Mitchell, A., Salemi, R., Sugiana, C., Compton, A. G., Tucker, E. J., Ke, B. X., Lamont, P. J., Turnbull, D. M., McFarland, R., Taylor, R. W., Thorburn, D. R. (2011) Respiratory chain complex I deficiency caused by mitochondrial DNA mutations European Journal of Human Genetics . 19 (7): 769-775 . |
3 | 22249460 | 2012 | Lax, N. Z., Hepplewhite, P. D., Reeve, A. K., Nesbitt, V., McFarland, R., Jaros, E., Taylor, R. W., Turnbull, D. M. (2012) Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study Journal of Neuropathology and Experimental Neurology . 71 (2): 148-161 . |
4 | 22577219 | 2012 | Lax, N. Z., Pienaar, I. S., Reeve, A. K., Hepplewhite, P. D., Jaros, E., Taylor, R. W., Kalaria, R. N., Turnbull, D. M. (2012) Microangiopathy in the cerebellum of patients with mitochondrial DNA disease Brain . 135 (Pt 6): 1736-1750 . |
5 | 28429146 | 2017 | Ogawa, E., Shimura, M., Fushimi, T., Tajika, M., Ichimoto, K., Matsunaga, A., Tsuruoka, T., Ishige, M., Fuchigami, T., Yamazaki, T., Mori, M., Kohda, M., Kishita, Y., Okazaki, Y., Takahashi, S., Ohtake, A., Murayama, K. (2017) Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients Journal of Inherited Metabolic Disease . 40 (5): 685-693 . |
6 | 29479304 | 2018 | Emperador, S., Vidal, M., Hernandez-Ainsa, C., Ruiz-Ruiz, C., Woods, D., Morales-Becerra, A., Arruga, J., Artuch, R., Lopez-Gallardo, E., Bayona-Bafaluy, M. P., Montoya, J., Ruiz-Pesini, E. (2018) The decrease in mitochondrial DNA mutation load parallels visual recovery in a Leber hereditary optic neuropathy patient Frontiers in Neuroscience . 12 (): 61 . |
7 | 29506874 | 2018 | Ng, Y. S., Lax, N. Z., Maddison, P., Alston, C. L., Blakely, E. L., Hepplewhite, P. D., Riordan, G., Meldau, S., Chinnery, P. F., Pierre, G., Chronopoulou, E., Du, A., Hughes, I., Morris, A. A., Kamakari, S., Chrousos, G., Rodenburg, R. J., Saris, C. G. J., Feeney, C., Hardy, S. A., Sakakibara, T., Sudo, A., Okazaki, Y., Murayama, K., Mundy, H., Hanna, M. G., Ohtake, A., Schaefer, A. M., Champion, M. P., Turnbull, D. M., Taylor, R. W., Pitceathly, R. D. S., McFarland, R., Gorman, G. S. (2018) MT-ND5 mutation exhibits highly variable neurological manifestations at low mutant load EBioMedicine . 30 (): 86-93 . |
8 | 29987491 | 2018 | O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 . |
9 | 31226990 | 2019 | Emperador, S., Lopez-Gallardo, E., Hernandez-Ainsa, C., Habbane, M., Montoya, J., Bayona-Bafaluy, M. P., Ruiz-Pesini, E. (2019) Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation Orphanet Journal of Rare Diseases . 14 (1): 150 . |
10 | 33763872 | 2021 | Pozzi, A., Dowling, D. K. (2021) Small mitochondrial RNAs as mediators of nuclear gene regulation, and potential implications for human health Bioessays . 43 (6): e2000265 . |
11 | 34135385 | 2021 | Nuber, F., Schimpf, J., di Rago, J. P., Tribouillard-Tanvier, D., Procaccio, V., Martin-Negrier, M. L., Trimouille, A., Biner, O., von Ballmoos, C., Friedrich, T. (2021) Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I Scientific Reports . 11 (1): 12641 . |