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1 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 .
2 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 .
3 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 .
4 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 .
5 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 .
6 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 .
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 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 .
9 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 .
10 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 .
11 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 .
12 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 .
13 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 .
14 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 .
15 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 .
16 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 .
17 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 .
18 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 .
19 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 .
20 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 .
21 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 .
22 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 .
23 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 .
24 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 .
25 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 .
26 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 .