Index | PMID | Date | Reference |
---|---|---|---|
1 | 2018041 | 1991 | Howell, N., Kubacka, I., Xu, M., McCullough, D. A. (1991) Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation American Journal of Human Genetics . 48 (5): 935-942 . |
2 | 7770132 | 1994 | Hanefeld, F.A., Ernst, B.P., Wilichowski, E., Christen, H.J. (1994) Leber's hereditary optic neuropathy mitochondrial DNA mutations in childhood multiple sclerosis Neuropediatrics . 25 (6): 331 . |
3 | 7821467 | 1994 | Mackey, D.A. (1994) Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy Eye . 8 (Pt 4): 431-436 . |
4 | 7635294 | 1995 | Howell, N., Kubacka, I., Halvorson, S., Howell, B., McCullough, D. A., Mackey, D. (1995) Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees Genetics . 140 (1): 285-302 . |
5 | 7760326 | 1995 | Riordan-Eva, P., Harding, A.E. (1995) Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations Journal of Medical Genetics . 32 (2): 81-87 . |
6 | 8742999 | 1996 | Chan, C., Mackey, D. A., Byrne, E. (1996) Sporadic Leber hereditary optic neuropathy in Australia and New Zealand Australian and New Zealand Journal of Ophthalmology . 24 (1): 7-14 . |
7 | 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 . |
8 | 18647627 | 2008 | Muravchick, S. (2008) Clinical implications of mitochondrial disease Advanced Drug Delivery Reviews . 60 (13-14): 1553-1560 . |
9 | 19001017 | 2009 | Yu-Wai-Man, P., Griffiths, P. G., Hudson, G., Chinnery, P. F. (2009) Inherited mitochondrial optic neuropathies [Review] Journal of Medical Genetics . 46 (3): 145-158 . |
10 | 19616643 | 2009 | Maliniemi, P., Kervinen, M., Hassinen, I. E. (2009) Modeling of human pathogenic mutations in Escherichia coli complex I reveals a sensitive region in the fourth inside loop of NuoH Mitochondrion . 9 (6): 394-401 . |
11 | 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 . |
12 | 22258525 | 2012 | van der Walt, E. M., Smuts, I., Taylor, R. W., Elson, J. L., Turnbull, D. M., Louw, R., van der Westhuizen, F. H. (2012) Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease European Journal of Human Genetics . 20 (6): 650-656 . |
13 | 27127184 | 2016 | Hung, S. S., Van Bergen, N. J., Jackson, S., Liang, H., Mackey, D. A., Hernandez, D., Lim, S. Y., Hewitt, A. W., Trounce, I., Pebay, A., Wong, R. C. (2016) Study of mitochondrial respiratory defects on reprogramming to human induced pluripotent stem cells Aging (Albany NY) . 8 (5): 945-957 . |
14 | 28455970 | 2017 | Wong, R. C. B., Lim, S. Y., Hung, S. S. C., Jackson, S., Khan, S., Van Bergen, N. J., De Smit, E., Liang, H. H., Kearns, L. S., Clarke, L., Mackey, D. A., Hewitt, A. W., Trounce, I. A., Pebay, A. (2017) Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy Aging (Albany NY) . 9 (4): 1341-1350 . |
15 | 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 . |
16 | 29249004 | 2018 | Bursle, C., Riney, K., Stringer, J., Moore, D., Gole, G., Kearns, L. S., Mackey, D. A., Coman, D. (2018) Leber hereditary optic neuropathy and longitudinally extensive transverse myelitis JIMD Reports . 42 (): 53-60 . |
17 | 20301353 | 2021 | Yu-Wai-Man, P., Chinnery, P. F. (2021) Leber hereditary optic neuropathy [updated 2021 Mar 11] GeneReviews® M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirza, A. Amemiya (): https://www.ncbi.nlm.nih.gov/books/NBK1174/ . |
18 | 34168607 | 2021 | Peron, C., Maresca, A., Cavaliere, A., Iannielli, A., Broccoli, V., Carelli, V., Di Meo, I., Tiranti, V. (2021) Exploiting hiPSCs in Leber's hereditary optic neuropathy (LHON): present achievements and future perspectives Frontiers in Neurology . 12 (): 812 . |
19 | 34670133 | 2021 | Lopez Sanchez, M. I. G., Kearns, L. S., Staffieri, S. E., Clarke, L., McGuinness, M. B., Meteoukki, W., Samuel, S., Ruddle, J. B., Chen, C., Fraser, C. L., Harrison, J., Hewitt, A. W., Howell, N., Mackey, D. A. (2021) Establishing risk of vision loss in Leber hereditary optic neuropathy American Journal of Human Genetics . 108 (11): 2159-2170 . |