| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 2830540 | 1988 | Holt, I.J., Harding, A.E., Morgan-Hughes, J.A. (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies Nature . 331 (6158): 717-719 . |
| 2 | 2895391 | 1988 | Lestienne, P., Ponsot, G. (1988) Kearns-Sayre syndrome with muscle mitochondrial DNA deletion Lancet . 1 (8590): 885 . |
| 3 | 2900946 | 1988 | Rotig, A., Colonna, M., Blanche, S., Fischer, A., LeDeist, F., Frezal, J., Saudubray, J.M., Munnich, A. (1988) Deletion of blood mitochondrial DNA in pancytopenia Lancet . 2 (8610): 567-568 . |
| 4 | 3412580 | 1988 | Zeviani, M., Moraes, C. T., DiMauro, S., Nakase, H., Bonilla, E., Nakase, H., Bonilla, E., Schon, E. A., Rowland, L. P. (1988) Deletions of mitochondrial DNA in Kearns-Sayre syndrome Neurology . 38 (9): 1339-1346 . |
| 5 | 2541333 | 1989 | Moraes, C. T., DiMauro, S., Zeviani, M., Lombes, A., Shanske, S., Miranda, A. F., Nakase, H., Bonilla, E., Werneck, L. C., Servidei, S., Nonaka, I., Koga, Y., Spiro, A. J., Brownell, K. W., Schmidt, B., Schotland, D. L., Zupanc, M., DeVivo, D. C., Schon, E. A., Rowland, L. P. (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome New England Journal of Medicine . 320 (20): 1293-1299 . |
| 6 | 2556715 | 1989 | Mita, S., Schmidt, B., Schon, E.A., DiMauro, S., Bonilla, E. (1989) Detection of 'deleted' mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome Proceedings of the National Academy of Sciences of the United States of America . 86 (23): 9509-9513 . |
| 7 | 2564980 | 1989 | Rotig, A., Colonna, M., Bonnefont, J.P., Blanche, S., Fischer, A., Saudubray, J.M., Munnich, A. (1989) Mitochondrial DNA deletion in Pearson's marrow-pancreas syndrome Lancet . 1 (8643): 902-903 . |
| 8 | 2604380 | 1989 | Holt, I.J., Harding, A.E., Cooper, J.M., Schapira, A.H., Toscano, A., Clark, J.B., Morgan-Hughes, J.A. (1989) Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA Annals of Neurology . 26 (6): 699-708 . |
| 9 | 2711184 | 1989 | Schon, E.A., Rizzuto, R., Moraes, C.T., Nakase, H., Zeviani, M., DiMauro, S. (1989) A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA Science . 244 (4902): 346-349 . |
| 10 | 2748329 | 1989 | Holt, I.J., Harding, A.E., Morgan-Hughes, J.A. (1989) Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms Nucleic Acids Research . 17 (12): 4465-4469 . |
| 11 | 2803291 | 1989 | Tanaka, M., Sato, W., Ohno, K., Yamamoto, T., Ozawa, T. (1989) Direct sequencing of deleted mitochondrial DNA in myopathic patients Biochemical and Biophysical Research Communications . 164 (-): 156-163 . |
| 12 | 2813377 | 1989 | Johns, D. R., Rutledge, S. L., Stine, O. C., Hurko, O. (1989) Directly repeated sequences associated with pathogenic mitochondrial DNA deletions Proceedings of the National Academy of Sciences of the United States of America . 86 (20): 8059-8062 . |
| 13 | 1689952 | 1990 | Nakase, H., Moraes, C. T., Rizzuto, R., Lombes, A., DiMauro, S., Schon, E. A. (1990) Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis American Journal of Human Genetics . 46 (3): 418-427 . |
| 14 | 1965208 | 1990 | Goto, Y., Koga, Y., Horai, S., Nonaka, I. (1990) Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies Journal of the Neurological Sciences . 100 (40545): 63-69 . |
| 15 | 1965280 | 1990 | Linnane, A. W., Baumer, A., Maxwell, R. J., Preston, H., Zhang, C., Marzuki, S. (1990) Mitochondrial gene mutation: the aging process and degenerative diseases Biochemistry International . 22 (6): 1067-1076 . |
| 16 | 1973036 | 1990 | Obermaier-Kusser, B., Muller-Hocker, J., Nelson, I., Lestienne, P., Enter, C., Riedele, T., Gerbitz, K. D. (1990) Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR Biochemical and Biophysical Research Communications . 169 (3): 1007-1015 . |
| 17 | 2241948 | 1990 | Ozawa, T., Tanaka, M., Ikebe, S., Ohno, K., Kondo, T., Mizuno, Y. (1990) Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis Biochemical and Biophysical Research Communications . 172 (2): 483-489 . |
| 18 | 2243133 | 1990 | Rotig, A., Cormier, V., Blanche, S., Bonnefont, J.P., Ledeist, F., Romero, N., Schmitz, J., Rustin, P., Fischer, A., Saudubray, J.M. (1990) Pearson's marrow-pancreas syndrome. A multi-system mitochondrial disorder in infancy Journal of Clinical Investigation . 86 (-): 1601-1608 . |
| 19 | 2263455 | 1990 | Cortopassi, G. A., Arnheim, N. (1990) Detection of a specific mitochondrial DNA deletion in tissues of older humans Nucleic Acids Research . 18 (23): 6927-6933 . |
| 20 | 2296377 | 1990 | Shanske, S., Moraes, C.T., Lombes, A., Miranda, A.F., Bonilla, E., Lewis, P., Whelan, M.A., Ellsworth, C.A., DiMauro, S. (1990) Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome Neurology . 40 (1): 24-28 . |
| 21 | 2381550 | 1990 | Johns, D. R. (1990) MtDNA deletions in Kearns-Sayre Neurology . 40 (8): 1322 . |
| 22 | 2390073 | 1990 | Ikebe, S., Tanaka, M., Ohno, K., Sato, W., Hattori, K., Kondo, T., Mizuno, Y., Ozawa, T. (1990) Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescence Biochemical and Biophysical Research Communications . 170 (3): 1044-1048 . |
| 23 | 2550906 | 1990 | Mita, S., Rizzuto, R., Moraes, C.T., Shanske, S., Arnaudo, E., Fabrizi, G.M., Koga, Y., DiMauro, S., Schon, E.A. (1990) Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA Nucleic Acids Research . 18 (3): 561-567 . |
| 24 | NA | 1991 | Esteal, S. (1991) The relative rate of DNA evolution in primates Molecular Biology and Evolution . 8 (-): 115-127 . |
| 25 | 1712754 | 1991 | Rotig, A., Cormier, V., Koll, F., Mize, C. E., Saudubray, J.-M., Veerman, A., Pearson, H. A., Munnich, A. (1991) Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome Genomics . 10 (2): 502-504 . |
| 26 | 1851820 | 1991 | Degoul, F., Nelson, I., Lestienne, P., Francois, D., Romero, N., Duboc, D., Eymard, B., Fardeau, M., Ponsot, G., Paturneau-Jouas, M., Chaussain, M., Leroux, J.P., Marsac, C. (1991) Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies Journal of the Neurological Sciences . 101 (2): 168-177 . |
| 27 | 1985462 | 1991 | McShane, M.A., Hammans, M., Sweeney, I., Holt, I.J., Beattie, T.J., Brett, E.M., Harding, A.E. (1991) Pearson Syndrome and mitochondrial encephalomyopathy in patient with a deletion of mtDNA American Journal of Human Genetics . 48 (1): 39-42 . |
| 28 | 2011523 | 1991 | Degoul, F., Nelson, I., Amselem, S., Romero, N., Obermaier-Kusser, B., Ponsot, G., Marsac, C., Lestienne, P. (1991) Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies Nucleic Acids Research . 19 (3): 493-496 . |
| 29 | 2014792 | 1991 | Poulton, J., Deadman, M. E., Ramacharan, S., Gardiner, R. M. (1991) Germ-line deletions of mtDNA in mitochondrial myopathy American Journal of Human Genetics . 48 (4): 649-653 . |
| 30 | 1284549 | 1992 | Moraes, C.T., Ricci, E., Petruzzella, V., Shanske, S., DiMauro, S., Schon, E.A., Bonilla, E. (1992) Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions Nature Genetics . 1 (5): 359-367 . |
| 31 | 1303287 | 1992 | Soong, N.W., Hinton, D.R., Cortopassi, G., Arnheim, N. (1992) Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain Nature Genetics . 2 (4): 318-323 . |
| 32 | 1303288 | 1992 | Corral-Debrinski, M., Horton, T., Lott, M.T., Shoffner, J.M., Beal, M.F., Wallace, D.C. (1992) Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age Nature Genetics . 2 (4): 324-329 . |
| 33 | 1305030 | 1992 | Simonsz, H.J., Barlocher, K., Rotig, A. (1992) Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion Documenta Ophthalmologica . 82 (-): 73-79 . |
| 34 | 1315844 | 1992 | Hammans, S.R., Sweeney, M.G., Holt, I.J., Cooper, J.M., Toscano, A., Clark, J.B., Morgan-Hughes, J.A., Harding, A.E. (1992) Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy Journal of the Neurological Sciences . 107 (1): 87-92 . |
| 35 | 1383759 | 1992 | Corral-Debrinski, M., Shoffner, J.M., Lott, M.T., Wallace, D.C. (1992) Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease Mutation Research . 275 (40608): 169-180 . |
| 36 | 1463763 | 1992 | Simonetti, S., Chen, X., DiMauro, S., Schon, E.A. (1992) Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR Biochimica et Biophysica Acta . 1180 (2): 113-122 . |
| 37 | 1519437 | 1992 | Gurgey, A., Rotig, A., Gumruk, F., Cemeroglu, P., Sarialioglu, F., Altay, C. (1992) Pearson's marrow-pancreas syndrome in 2 Turkish children Acta Haematologica . 87 (4): 206-209 . |
| 38 | 1606473 | 1992 | Hammans, S.R., Sweeney, M.G., Wicks, D.A., Morgan-Hughes, J.A., Harding, A.E. (1992) A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies Brain . 115 (Pt 2): 343-365 . |
| 39 | NA | 1993 | DiMauro, S. (1993) Mitochondrial encephalomyopathies The Molecular and Genetic Basis of Neurological Disease Rosenberg, Prusiner, DiMauro, Barchi, and Kunkel (.): 665-694 Butterworth-Heinemann |
| 40 | 7679851 | 1993 | Muller-Hocker, J., Seibel, P., Schneiderbanger, K., Kadenbach, B. (1993) Different in situ hybridization patterns of mitochondrial DNA in cytochrome c oxidase-deficient extraocular muscle fibres in the elderly Virchows Arch A, Pathological Anatomy and Histopathology . 422 (1): 7-15 . |
| 41 | 8347829 | 1993 | Blanchard, B.J., Park, T., Fripp, W.J., Lerman, L.S., Ingram, V.M. (1993) A mitochondrial DNA deletion in normally aging and in Alzheimer brain tissue Neuroreport . 4 (6): 799-802 . |
| 42 | 8356010 | 1993 | Sano, T., Ban, K., Ichiki, T., Kobayashi, M., Tanaka, M., Ohno, K., Ozawa, T. (1993) Molecular and genetic analyses of two patients with Pearson's marrow-pancreas syndrome Pediatric Research . 34 (-): 105-110 . |
| 43 | 8365704 | 1993 | Suganuma, N., Kitagawa, T., Nawa, A., Tomoda, Y. (1993) Human ovarian aging and mitochondrial DNA deletion Hormone Research . 39 (Suppl 1): 16-21 . |
| 44 | 8396136 | 1993 | Bourgeron, T., Chretien, D., Rotig, A., Munnich, A., Rustin, P. (1993) Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures Journal of Biological Chemistry . 268 (26): 19369-19376 . |
| 45 | 8410517 | 1993 | Bernes, S.M., Bacino, C., Prezant, T.R., Pearson, M.A., Wood, T.S., Fournier, P., Fischel-Ghodsian, N. (1993) Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome Journal of Pediatrics . 123 (4): 598-602 . |
| 46 | 8513327 | 1993 | Brockington, M., Sweeney, M.G., Hammans, S.R., Morgan-Hughes, J.A., Harding, A.E. (1993) A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies Nature Genetics . 4 (1): 67-71 . |
| 47 | 7835898 | 1994 | Corral-Debrinski, M., Horton, T., Lott, M.T., Shoffner, J.M., McKee, A.C., Beal, M.F., Graham, B.H., Wallace, D.C. (1994) Marked changes in mitochondrial DNA deletion levels in Alzheimer brains Genomics . 23 (2): 471-476 . |
| 48 | 7946321 | 1994 | Wang, H., Fliegel, L., Cass, C.E., Penn, A.M.W., Michalak, M., Weiner, J.H., Lemire, B.D. (1994) Quantification of mitochondrial DNA in heteroplasmic fibroblasts with competitive PCR Biotechniques . 17 (1): 76-78 . |
| 49 | 8005516 | 1994 | Yen, T.C., King, K.L., Lee, H.C., Yeh, S.H., Wei, Y.H. (1994) Age-dependent increase of mitochondrial DNA deletions together with lipid peroxides and superoxide dismutase in human liver mitochondria Free Radical Biology and Medicine . 16 (2): 207-214 . |
| 50 | 8018492 | 1994 | Niaudet, P., Heidet, L., Munnich, A., Schmitz, J., Bouissou, F., Gubler, M.C., Rotig, A. (1994) Deletion of the mitochondrial DNA in a case of de Toni-Debre-Fanconi syndrome and Pearson syndrome Pediatric Nephrology . 8 (2): 164-168 . |
| 51 | 8037468 | 1994 | Pang, C.Y., Lee, H.C., Yang, J.H., Wei, Y.H. (1994) Human skin mitochondrial DNA deletions associated with light exposure Archives of Biochemistry and Biophysics . 312 (2): 534-538 . |
| 52 | 8106699 | 1994 | Remes, A.M., Hassinen, I.E., Ikaheimo, M.J., Herva, R., Hirvonen, J., Peuhkurinen, K.J. (1994) Mitochondrial DNA deletions in dilated cardiomyopathy: a clinical study employing endomyocardial sampling Journal of the American College of Cardiology . 23 (4): 935-942 . |
| 53 | 8128959 | 1994 | Baumer, A., Zhang, C., Linnane, A.W., Nagley, P. (1994) Age-related human mtDNA deletions: a heterogeneous set of deletions arising at a single pair of directly repeated sequences American Journal of Human Genetics . 54 (4): 618-630 . |
| 54 | 8155737 | 1994 | Lee, H.C., Pang, C.Y., Hsu, H.S., Wei, Y.H. (1994) Differential accumulations of 4,977 bp deletion in mitochondrial DNA of various tissues in human ageing Biochimica et Biophysica Acta . 1226 (1): 37-43 . |
| 55 | 8162014 | 1994 | Sciacco, M., Bonilla, E., Schon, E.A., DiMauro, S., Moraes, C.T. (1994) Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy (published erratum appears in Hum. Mol. Genet. 3(4):687, 1994) Human Molecular Genetics . 3 (1): 13-19 . |
| 56 | 8201329 | 1994 | Huang, C. C., Chen, R.S., Chen, C.M., Wang, H.S., Lee, C.C., Pang, C.Y., Hsu, H.S., Lee, H.C., Wei, Y.H. (1994) MELAS syndrome with mitochondrial tRNALeu(UUR) gene mutation in a Chinese family Journal of Neurology, Neurosurgery and Psychiatry . 57 (5): 586-589 . |