Index | PMID | Date | Reference |
---|---|---|---|
1 | 14684687 | 2003 | Lebon, S., Chol, M., Benit, P., Mugnier, C., Chretien, D., Giurgea, I., Kern, I., Girardin, E., Hertz-Pannier, L., de Lonlay, P., Rotig, A., Rustin, P., Munnich, A. (2003) Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency Journal of Medical Genetics . 40 (12): 896-899 . |
2 | 14705112 | 2004 | McFarland, R., Kirby, D. M., Fowler, K. J., Ohtake, A., Ryan, M. T., Amor, D. J., Fletcher, J. M., Dixon, J. W., Collins, F. A., Turnbull, D. M., Taylor, R. W., Thorburn, D. R. (2004) De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency Annals of Neurology . 55 (1): 58-64 . |
3 | 14764913 | 2004 | Crimi, M., Papadimitriou, A., Galbiati, S., Palamidou, P., Fortunato, F., Bordoni, A., Papandreou, U., Papadimitriou, D., Hadjigeorgiou, G. M., Drogari, E., Bresolin, N., Comi, G. P. (2004) A new mitochondrial DNA mutation in ND3 gene causing severe Leigh Syndrome with early lethality Pediatric Research . 55 (5): 842-846 . |
4 | 15372108 | 2004 | Kirby, D. M., Salemi, R., Sugiana, C., Ohtake, A., Parry, L., Bell, K. M., Kirk, E. P., Boneh, A., Taylor, R. W., Dahl, H. H., Ryan, M. T., Thorburn, D. R. (2004) NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency Journal of Clinical Investigation . 114 (6): 837-845 . |
5 | 15576045 | 2004 | Bugiani, M., Invernizzi, F., Alberio, S., Briem, E., Lamantea, E., Carrara, F., Moroni, I., Farina, L., Spada, M., Donati, M. A., Uziel, G., Zeviani, M. (2004) Clinical and molecular findings in children with complex I deficiency Biochimica et Biophysica Acta . 1659 (40577): 136-147 . |
6 | 15972314 | 2006 | Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 . |
7 | 17152068 | 2006 | Sarzi, E., Brown, M., Lebon, S., Chretien, D., Munnich, A., Rotig, A., Procaccio, V. (2006) A novel recurrent mtDNA mutation in ND3 gene causing Leigh syndrome and dystonia American Journal of Medical Genetics . 143A (1): 33-41 . |
8 | 18402672 | 2008 | Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 . |
9 | 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 . |
10 | 20064630 | 2010 | Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 . |
11 | 20972245 | 2011 | Lebre, A. S., Rio, M., Faivre d'Arcier, L., Vernerey, D., Landrieu, P., Slama, A., Jardel, C., Laforet, P., Rodriguez, D., Dorison, N., Galanaud, D., Chabrol, B., Paquis-Flucklinger, V., Grevent, D., Edvardson, S., Steffann, J., Funalot, B., Villeneuve, N., Valayannopoulos, V., de Lonlay, P., Desguerre, I., Brunelle, F., Bonnefont, J. P., Rotig, A., Munnich, A., Boddaert, N. (2011) A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency Journal of Medical Genetics . 48 (1): 16-23 . |
12 | 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 . |
13 | 21457906 | 2011 | Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 . |
14 | 22115768 | 2012 | Enns, G. M., Kinsman, S. L., Perlman, S. L., Spicer, K. M., Abdenur, J. E., Cohen, B. H., Amagata, A., Barnes, A., Kheifets, V., Shrader, W. D., Thoolen, M., Blankenberg, F., Miller, G. (2012) Initial experience in the treatment of inherited mitochondrial disease with EPI-743 Molecular Genetics and Metabolism . 105 (1): 91-102 . |
15 | 24642831 | 2014 | Nesbitt, V., Alston, C. L., Blakely, E. L., Fratter, C., Feeney, C. L., Poulton, J., Brown, G. K., Turnbull, D. M., Taylor, R. W., McFarland, R. (2014) A national perspective on prenatal testing for mitochondrial disease European Journal of Human Genetics . 22 (11): 1255-1259 . |
16 | 27742419 | 2017 | Grosso, S., Carluccio, M. A., Cardaioli, E., Cerase, A., Malandrini, A., Romano, C., Federico, A., Dotti, M. T. (2017) Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum Brain and Development . 39 (3): 261-265. Comments: Finsterer & Zarrouk-Mahjoub 2017 [PMID 27914863] and [PMID 28522224] . |
17 | 27914863 | 2017 | Finsterer, J., Zarrouk-Mahjoub, S. (2017) Epilepsia partialis continua in MELAS/Leigh overlap syndrome Brain and Development . 39 (4): 365 . |
18 | 28050007 | 2017 | Mukai, M., Nagata, E., Mizuma, A., Yamano, M., Sugaya, K., Nishino, I., Goto, Y. I., Takizawa, S. (2017) Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like encephalopathy diagnosed based on the complete sequencing of mitochondrial DNA extracted from biopsied muscle without any myopathic changes Internal Medicine . 56 (1): 95-99 |
19 | 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 . |
20 | 28522224 | 2017 | Finsterer, J., Zarrouk-Mahjoub, S. (2017) MELAS/Leigh overlap syndrome due to the ND6 mutation m.10158T>C Brain and Development . 39 (8): 724 . |
21 | 28883258 | 2017 | Mukai, M., Nagata, E. (2017) Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) due to a m.10158T>C ND3 mutation with a normal muscle biopsy Internal Medicine . 56 (19): 2695 |
22 | 29237403 | 2017 | Mezuki, S., Fukuda, K., Matsushita, T., Fukushima, Y., Matsuo, R., Goto, Y. I., Yasukawa, T., Uchiumi, T., Kang, D., Kitazono, T., Ago, T. (2017) Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report BMC Neurology . 17 (1): 217 . |
23 | 28916229 | 2018 | Kouga, T., Takagi, M., Miyauchi, A., Shimbo, H., Iai, M., Yamashita, S., Murayama, K., Klein, M. B., Miller, G., Goto, T., Osaka, H. (2018) Japanese Leigh syndrome case treated with EPI-743 Brain and Development . 40 (2): 145-149. See comment by Finsterer & Zarrouk-Mahjoub 2018 [PMID 28916229]; also reply by Osaka and Kouga 2018 [PMID 29500099] . |
24 | 29054334 | 2018 | Finsterer, J., Zarrouk-Mahjoub, S. (2018) Is vatiquinone truly beneficial for Leigh syndrome? Brain and Development . 40 (5): 443. Comment on Kouga et al [PMID 28916229]; see also reply by Osaka and Kouga [PMID 29500099] . |
25 | 29500099 | 2018 | Osaka, H., Kouga, T. (2018) Reply to the letter to the editor by Josef Finsterer and Sinda Zarrouk-Mahjoub Brain and Development . 40 (5): 444 . |
26 | 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 . |
27 | 30095618 | 2018 | Ma, Y. Y., Li, X. Y., Li, Z. Q., Song, J. Q., Hou, J., Li, J. H., Sun, L., Jiang, J., Yang, Y. L. (2018) Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency Medicine (Baltimore) . 97 (32): e11606 . |
28 | 30128709 | 2018 | Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 . |
29 | 31996177 | 2020 | Danhelovska, T., Kolarova, H., Zeman, J., Hansikova, H., Vaneckova, M., Lambert, L., Kucerova-Vidrova, V., Berankova, K., Honzik, T., Tesarova, M. (2020) Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I BMC Pediatr . 20 (1): 41 . |
30 | 32371897 | 2020 | Yamada, Y., Somiya, K., Miyauchi, A., Osaka, H., Harashima, H. (2020) Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene Scientific Reports . 10 (1): 7511 . |
31 | 32504279 | 2020 | Formichi, P., Cardone, N., Taglia, I., Cardaioli, E., Salvatore, S., Gerfo, A. L., Simoncini, C., Montano, V., Siciliano, G., Mancuso, M., Malandrini, A., Federico, A., Dotti, M. T. (2020) Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions Neurological Sciences . 41 (12): 3653-3662 . |
32 | NA | 2021 | Bakare, A. B., Daniel, J., Stabach, J., Rojas, A., Bell, A., Henry, B., Iyer, S. (2021) Quantifying mitochondrial dynamics in patient fibroblasts with multiple developmental defects and mitochondrial disorders International Journal of Molecular Sciences . 22 (12): 6263 . |