Index | PMID | Date | Reference |
---|---|---|---|
1 | 16217706 | 2005 | Moslemi, A. R., Darin, N., Tulinius, M., Oldfors, A., Holme, E. (2005) Two new mutations in the MTATP6 gene associated with Leigh syndrome Neuropediatrics . 36 (5): 314-8 . |
2 | 17352390 | 2007 | Castagna, A. E., Addis, J., McInnes, R. R., Clarke, J. T., Ashby, P., Blaser, S., Robinson, B. H. (2007) Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA American Journal of Medical Genetics . 143A (8): 808-816 . |
3 | 18461509 | 2007 | Childs, A. M., Hutchin, T., Pysden, K., Highet, L., Bamford, J., Livingston, J., Crow, Y. J. (2007) Variable phenotype including Leigh Syndrome with a 9185T>C mutation in the mtATP6 gene Neuropediatrics . 38 (6): 313-316 . |
4 | 19747204 | 2010 | Verity, C. M., Winstone, A. M., Stellitano, L., Krishnakumar, D., Will, R., McFarland, R. (2010) The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study Developmental Medicine and Child Neurology . 52 (5): 434-140 . |
5 | 20546952 | 2010 | Saneto, R. P., Singh, K. K. (2010) Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C Mitochondrion . 10 (5): 567-572 . |
6 | 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 . |
7 | 21473984 | 2011 | Gigarel, N., Hesters, L., Samuels, D. C., Monnot, S., Burlet, P., Kerbrat, V., Lamazou, F., Benachi, A., Frydman, R., Feingold, J., Rotig, A., Munnich, A., Bonnefont, J. P., Frydman, N., Steffann, J. (2011) Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans American Journal of Human Genetics . 88 (4): 494-498 . |
8 | 22577227 | 2012 | Pfeffer, G., Blakely, E. L., Alston, C. L., Hassani, A., Boggild, M., Horvath, R., Samuels, D. C., Taylor, R. W., Chinnery, P. F. (2012) Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations Journal of Neurology, Neurosurgery and Psychiatry 83 (9): 883-886 |
9 | 22933740 | 2012 | Pitceathly, R. D., Murphy, S. M., Cottenie, E., Chalasani, A., Sweeney, M. G., Woodward, C., Mudanohwo, E. E., Hargreaves, I., Heales, S., Land, J., Holton, J. L., Houlden, H., Blake, J., Champion, M., Flinter, F., Robb, S. A., Page, R., Rose, M., Palace, J., Crowe, C., Longman, C., Lunn, M. P., Rahman, S., Reilly, M. M., Hanna, M. G. (2012) Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease Neurology . 79 (11): 1145-1154 . |
10 | 23847141 | 2013 | Bannwarth, S., Procaccio, V., Lebre, A. S., Jardel, C., Chaussenot, A., Hoarau, C., Maoulida, H., Charrier, N., Gai, X., Xie, H. M., Ferre, M., Fragaki, K., Hardy, G., Mousson de Camaret, B., Marlin, S., Dhaenens, C. M., Slama, A., Rocher, C., Paul Bonnefont, J., Rotig, A., Aoutil, N., Gilleron, M., Desquiret-Dumas, V., Reynier, P., Ceresuela, J., Jonard, L., Devos, A., Espil-Taris, C., Martinez, D., Gaignard, P., Le Quan Sang, K. H., Amati-Bonneau, P., Falk, M. J., Florentz, C., Chabrol, B., Durand-Zaleski, I., Paquis-Flucklinger, V. (2013) Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Journal of Medical Genetics . 50 (10): 704-714 . |
11 | 24153443 | 2013 | Aure, K., Dubourg, O., Jardel, C., Clarysse, L., Sternberg, D., Fournier, E., Laforet, P., Streichenberger, N., Petiot, P., Gervais-Bernard, H., Vial, C., Bedat-Millet, A. L., Drouin-Garraud, V., Bouillaud, F., Vandier, C., Fontaine, B., Lombes, A. (2013) Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations Neurology . 81 (21): 1810-1818 . |
12 | 25548692 | 2014 | Brum, M., Semedo, C., Guerreiro, R., Pinto Marques, J. (2014) Motor neuron syndrome as a new phenotypic manifestation of mutation 9185T>C in gene mtATP6 Case Reports in Neurological Medicine 2014 (): 701761 . |