| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 8155739 | 1994 | Houshmand, M., Larsson, N.G., Holme, E., Oldfors, A., Tulinius, M.H., Andersen, O. (1994) Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1226 (1): 49-55 . |
| 2 | 16150714 | 2005 | Merriwether, D. A., Hodgson, J. A., Friedlaender, F. R., Allaby, R., Cerchio, S., Koki, G., Friedlaender, J. S. (2005) Ancient mitochondrial M haplogroups identified in the Southwest Pacific Proceedings of the National Academy of Sciences of the United States of America . 102 (37): 13034-13039 . |
| 3 | 19720722 | 2009 | Horvath, R., Kemp, J. P., Tuppen, H. A., Hudson, G., Oldfors, A., Marie, S. K., Moslemi, A. R., Servidei, S., Holme, E., Shanske, S., Kollberg, G., Jayakar, P., Pyle, A., Marks, H. M., Holinski-Feder, E., Scavina, M., Walter, M. C., Coku, J., Gunther-Scholz, A., Smith, P. M., McFarland, R., Chrzanowska-Lightowlers, Z. M., Lightowlers, R. N., Hirano, M., Lochmuller, H., Taylor, R. W., Chinnery, P. F., Tulinius, M., DiMauro, S. (2009) Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy Brain . 132 (Pt 11): 3165-3174 . |
| 4 | 21194154 | 2010 | Mimaki, M., Hatakeyama, H., Komaki, H., Yokoyama, M., Arai, H., Kirino, Y., Suzuki, T., Nishino, I., Nonaka, I., Goto, Y. (2010) Reversible infantile respiratory chain deficiency: a clinical and molecular study Annals of Neurology . 68 (6): 845-854 . |
| 5 | 21931168 | 2011 | Uusimaa, J., Jungbluth, H., Fratter, C., Crisponi, G., Feng, L., Zeviani, M., Hughes, I., Treacy, E. P., Birks, J., Brown, G. K., Sewry, C. A., McDermott, M., Muntoni, F., Poulton, J. (2011) Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease Journal of Medical Genetics . 48 (10): 660-668 . |
| 6 | 23814040 | 2013 | Boczonadi, V., Smith, P. M., Pyle, A., Gomez-Duran, A., Schara, U., Tulinius, M., Chinnery, P. F., Horvath, R. (2013) Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency Human Molecular Genetics . 22 (22): 4602-4615 . |
| 7 | 25407320 | 2015 | Boczonadi, V., Bansagi, B., Horvath, R. (2015) Reversible infantile mitochondrial diseases Journal of Inherited Metabolic Disease . 38 (3): 427-435 . |
| 8 | NA | 2016 | van Oven, M., Kayser, M. (2016) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 17): 18 Feb . |
| 9 | 29253894 | 2017 | Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 . |
| 10 | 31333056 | 2019 | Guerrero, J. C., Pedro, H., Parisotto, S., Heller, D., Baisre-de Leon, A. (2019) A case of reversible infantile respiratory chain deficiency presenting with hypotonia, hyperammonemia, and failure to thrive Pediatric and Developmental Pathology . 22 (6): 590-593 . |
| 11 | 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 . |
| 12 | 32970680 | 2020 | Toncheva, D., Serbezov, D., Karachanak-Yankova, S., Nesheva, D. (2020) Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease PLoS One 15 (9): e0233666 . |
| 13 | 33128823 | 2020 | Hathazi, D., Griffin, H., Jennings, M. J., Giunta, M., Powell, C., Pearce, S. F., Munro, B., Wei, W., Boczonadi, V., Poulton, J., Pyle, A., Calabrese, C., Gomez-Duran, A., Schara, U., Pitceathly, R. D. S., Hanna, M. G., Joost, K., Cotta, A., Paim, J. F., Navarro, M. M., Duff, J., Mattman, A., Chapman, K., Servidei, S., Della Marina, A., Uusimaa, J., Roos, A., Mootha, V., Hirano, M., Tulinius, M., Giri, M., Hoffmann, E. P., Lochmuller, H., DiMauro, S., Minczuk, M., Chinnery, P. F., Muller, J. S., Horvath, R. (2020) Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency The EMBO Journal . 39 (23): e105364 . |
| 14 | 33832841 | 2021 | Cotta, A., Carvalho, E., da-Cunha-Junior, A., Navarro, M. M., Paim, J. F., Valicek, J., Baptista-Junior, S., da Silveira, E. B., Lima, M. I., Carellos, E. V. M., de-La-Rocque-Ferreira, A., Takata, R. I., Horvath, R. (2021) Muscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency Neuromuscular Disorders . 31 (6): 551-557 . |
| 15 | 34732400 | 2021 | Schon, K. R., Horvath, R., Wei, W., Calabrese, C., Tucci, A., Ibanez, K., Ratnaike, T., Pitceathly, R. D. S., Bugiardini, E., Quinlivan, R., Hanna, M. G., Clement, E., Ashton, E., Sayer, J. A., Brennan, P., Josifova, D., Izatt, L., Fratter, C., Nesbitt, V., Barrett, T., McMullen, D. J., Smith, A., Deshpande, C., Smithson, S. F., Festenstein, R., Canham, N., Caulfield, M., Houlden, H., Rahman, S., Chinnery, P. F., Genomics England Research Consortium (2021) Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study BMJ: British Medical Journal . 375 (): e066288 . |
| 16 | 34806237 | 2022 | Roos, S., Hedberg-Oldfors, C., Visuttijai, K., Stein, M., Kollberg, G., Eliasdottir, O., Lindberg, C., Darin, N., Oldfors, A. (2022) Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant Brain Pathology . 32 (4): e13038 . |