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 | 2841928 | 1988 | Ozawa, T., Yoneda, M., Tanaka, M., Ohno, K., Sato, W., Suzuki, H., Nishikimi, M., Yamamoto, M., Nonaka, I., Horai, S. (1988) Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy Biochemical and Biophysical Research Communications . 154 (-): 1240-1247 . |
3 | 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 . |
4 | 2515390 | 1989 | Tanaka, M., Yoneda, M., Ohno, K., Sato, W., Yamamoto, M., Nonaka, I., Horai, S., Ozawa, T. (1989) Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia Journal of Inherited Metabolic Disease . 12 (-): 359-362 . |
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 | 2541710 | 1989 | Moraes, C. T., Schon, E. A., DiMauro, S., Miranda, A. F. (1989) Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome Biochemical and Biophysical Research Communications . 160 (2): 765-771 . |
7 | 2563557 | 1989 | Johns, D. R., Drachman, D. B., Hurko, O. (1989) Identical mitochondrial DNA deletions in blood and muscle Lancet . 1 (8634): 393-394 . |
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 | 2804078 | 1989 | Tanaka-Yamamoto, T., Tanaka, M., Ohno, K., Sato, W., Horai, S., Ozawa, T. (1989) Specific amplification of deleted mitochondrial DNA from a myopathic patient and analysis of deleted region with S1 nuclease Biochimica et Biophysica Acta . 1009 (-): 151-155 . |
10 | 1964959 | 1990 | Sahashi, K., Ohno, K., Tanaka, M., Ibi, T., Yamamoto, T., Tashiro, M., Sato, W., Takahashi, A., Ozawa, T. (1990) Cytoplasmic body and mitochondrial DNA deletion Journal of the Neurological Sciences . 99 (-): 291-300 . |
11 | 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 . |
12 | 2156958 | 1990 | Gerbitz, K.D., Obermaier-Kusser, B., Zierz, S., Pongratz, D., Muller-Hocker, J., Lestienne, P. (1990) Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes Journal of Neurology . 237 (1): 5-10 . |
13 | 1646110 | 1991 | Reichmann, H., Degoul, F., Gold, R., Meurers, B., Ketelsen, U. P., Hartmann, J., Marsac, C., Lestienne, P. (1991) Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia European Neurology . 31 (2): 108-113 . |
14 | 1656694 | 1991 | Collins, S., Dennett, X., Byrne, E., Marzuki, S. (1991) Chronic progressive external ophthalmoplegia in patients with large heteroplasmic mitochondrial DNA deletions: an immunocytochemical study Acta Neuropathologica . 82 (3): 185-192 . |
15 | 1677417 | 1991 | Trounce, I., Byrne, E., Marzuki, S., Dennett, X., Sudoyo, H., Mastaglia, F., Berkovic, S.F. (1991) Functional respiratory chain studies in subjects with chronic progressive external ophthalmoplegia and large heteroplasmic mitochondrial DNA deletions Journal of the Neurological Sciences . 102 (-): 92-99 . |
16 | 1906931 | 1991 | McKelvie, P.A., Morley, J.B., Byrne, E., Marzuki, S. (1991) Mitochondrial encephalomyopathies: a correlation between neuropathological findings and defects in mitochondrial DNA Journal of the Neurological Sciences . 102 (1): 51-60 . |
17 | 1908005 | 1991 | Geny, C., Cormier, V., Meyrignac, C., Cesaro, P., Degos, J., Gherardi, R., Rotig, A. (1991) Muscle mitochondrial DNA in encephalomyopathy and ragged red fibers: a Southern blot analysis and literature review Journal of Neurology . 238 (3): 171-176 . |
18 | 2044631 | 1991 | Merelli, E., Selleri, L., Ferrari, S., Sola, P., Colombo, A., Torelli, G. (1991) Mitochondrial DNA deletion in oculoskeletal myopathy European Neurology . 31 (3): 160-163 . |
19 | 1324295 | 1992 | Oldfors, A., Larsson, N.-G., Holme, E., Tulinius, M., Kadenbach, B., Droste, M. (1992) Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres Journal of the Neurological Sciences . 110 (40545): 169-177 . |
20 | 7683627 | 1993 | Remes, A.M., Peuhkurinen, K.J., Herva, R., Majamaa, K., Hassinen, I.E. (1993) Kearns-Sayre syndrome case presenting a mitochondrial DNA deletion with unusual direct repeats and a rudimentary RNAase mitochondrial ribonucleotide processing target sequence Genomics . 16 (1): 256-258 . |
21 | 8384916 | 1993 | Oldfors, A., Larsson, N. G., Lindberg, C., Holme, E. (1993) Mitochondrial DNA deletions in inclusion body myositis Brain . 116 (Pt 2): 325-336 . |
22 | 8388186 | 1993 | Johnson, M.A., Bindoff, L.A., Turnbull, D.M. (1993) Cytochrome c oxidase activity in single muscle fibers: assay techniques and diagnostic applications Annals of Neurology . 33 (1): 28-35 . |
23 | 8427161 | 1993 | Sato, W., Tanaka, M., Sugiyama, S., Hattori, K., Ito, T., Kawaguchi, H., Onozuka, H., Yasuda, H., Ito, K., Takada, G., Ozawa, T. (1993) Deletion of mitochondrial DNA in a patient with conduction block American Heart Journal . 125 (2 Pt 1): 550-552 . |
24 | 8455572 | 1993 | Takeda, N., Tanamura, A., Iwai, T., Nakamura, I., Kato, M., Ohkubo, T., Noma, K. (1993) Mitochondrial DNA deletion in human myocardium Molecular and Cellular Biochemistry . 119 (-): 105-108 . |
25 | 8017172 | 1994 | Prelle, A., Fagiolari, G., Checcarelli, N., Moggio, M., Battistel, A., Comi, G.P., Bazzi, P., Bordoni, A., Zeviani, M., Scarlato, G. (1994) Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level Acta Neuropathologica (Berlin) . 87 (4): 371-376 . |
26 | 8072250 | 1994 | Szabolcs, M.J., Seigle, R., Shanske, S., Bonilla, E., DiMauro, S., D'Agati, V. (1994) Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy Kidney International . 45 (5): 1388-1396 . |