| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 10737123 | 1998 | Kosel, S., Grasbon-Frodl, E. M., Mautsch, U., Egensperger, R., von Eitzen, U., Frishman, D., Hofmann, S., Gerbitz, K. D., Mehraein, P., Graeber, M. B. (1998) Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease Neurogenetics . 1 (3): 197-204 . |
| 2 | 12150954 | 2002 | Fauser, S., Luberichs, J., Besch, D., Leo-Kottler, B. (2002) Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations Biochemical and Biophysical Research Communications . 295 (2): 342-347 . |
| 3 | 12271374 | 2002 | Leo-Kottler, B., Luberichs, J., Besch, D., Christ-Adler, M., Fauser, S. (2002) Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery Graefes Archive for Clincial and Experimental Ophthalmology . 240 (9): 758-764 . |
| 4 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
| 5 | NA | 2017 | Lloria, X., Catarino, C., Downes, S., Vincent, A., Matloob, S., Silva, M., Klopstock, T. (2017) Clinical experience with idebenone in the treatment of patients harboring rare mutations related to Leber's hereditary optic neuropathy (LHON) Acta Ophthalmologica . 95 (S259): Abstract from the 2017 European Association for Vision and Eye Research Conference . |
| 6 | 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 . |
| 7 | 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 . |
| 8 | 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/ . |
| 9 | 33652663 | 2021 | Liutkeviciene, R., Sidaraite, A., Kuliaviene, L., Glebauskiene, B., Jurkute, N., Aluzaite-Baranauskiene, L., Gelzinis, A., Zemaitiene, R. (2021) A typical case presentation with spontaneous visual recovery in patient diagnosed with Leber hereditary optic neuropathy due to rare point mutation in MT-ND4 gene (m.11253T>C) and literature review Medicina (Kaunas) . 57 (3): 202 . |
| 10 | 36827238 | 2023 | Buonfiglio, P. I., Menazzi, S., Francipane, L., Lotersztein, V., Ferreiro, V., Elgoyhen, A. B., Dalamon, V. (2023) Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON) PLoS One 18 (2): e0275703 |