-
1
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BG, de Bruijin MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG: Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-465.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
De Bruijin, M.H.L.4
Coulson, A.R.5
Drouin, J.6
Eperon, I.C.7
Nierlich, D.P.8
Roe, B.A.9
Sanger, F.10
Schreier, P.H.11
Smith, A.J.H.12
Staden, R.13
Young, I.G.14
-
2
-
-
0026621445
-
Distribution and threshold expression of the tRNALys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)
-
Boulet L, Karpati G, Shoubridge EA: Distribution and threshold expression of the tRNALys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1992;51:1187-1200.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1187-1200
-
-
Boulet, L.1
Karpati, G.2
Shoubridge, E.A.3
-
3
-
-
0026608057
-
MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts
-
Chomyn A, Martinuzzi A, Yoneda M, Daga A, Hurko O.Johns D, Lai ST, Nonaka I, Angelini C, Attardi G: MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc Natl Acad Sci USA 1992;89:4221-4225.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 4221-4225
-
-
Chomyn, A.1
Martinuzzi, A.2
Yoneda, M.3
Daga, A.4
Hurko, O.5
Johns, D.6
Lai, S.T.7
Nonaka, I.8
Angelini, C.9
Attardi, G.10
-
4
-
-
0002609714
-
Histological and histochemical stains and reactions
-
London, Balliere Tindall
-
Dubowitz V: Histological and histochemical stains and reactions, in Muscle Biopsy: A Practical Approach, 2nd ed. London, Balliere Tindall, 1985, pp 19-40.
-
(1985)
Muscle Biopsy: A Practical Approach, 2nd Ed.
, pp. 19-40
-
-
Dubowitz, V.1
-
6
-
-
0018885541
-
Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): Disease entity or a syndrome?
-
Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T: Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities): disease entity or a syndrome? J Neurol Sci 1980;47:117-133.
-
(1980)
J Neurol Sci
, vol.47
, pp. 117-133
-
-
Fukuhara, N.1
Tokiguchi, S.2
Shirakawa, K.3
Tsubaki, T.4
-
7
-
-
0025666322
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651-653.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
8
-
-
0026004614
-
A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
-
Goto Y, Nonaka I, Horai S: A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim Biophys Acta 1991;1097:238-240.
-
(1991)
Biochim Biophys Acta
, vol.1097
, pp. 238-240
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
9
-
-
0025836655
-
Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction
-
Hayashi J-I, Ohta S, Kikuchi A, Masakazu T, Goto Y-I, Nonaka I: Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci USA 1991;88:10614-10618.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 10614-10618
-
-
Hayashi, J.-I.1
Ohta, S.2
Kikuchi, A.3
Masakazu, T.4
Goto, Y.-I.5
Nonaka, I.6
-
10
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt IJ, Harding AE, Morgan-HughesJA: Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717-719.
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
11
-
-
0020619577
-
A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia
-
Johnson MA, Turnbull DM, Dick DJ, Scherratt HSA: A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia. J Neurol Sci 1983;60:31-53.
-
(1983)
J Neurol Sci
, vol.60
, pp. 31-53
-
-
Johnson, M.A.1
Turnbull, D.M.2
Dick, D.J.3
Scherratt, H.S.A.4
-
12
-
-
84924635809
-
Retinitis pigmentosa, external ophthalmoplegia and complete heart block
-
Kearns TP, Sayre GP: Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Arch Ophthalmol 1958;60:280-289.
-
(1958)
Arch Ophthalmol
, vol.60
, pp. 280-289
-
-
Kearns, T.P.1
Sayre, G.P.2
-
13
-
-
0026573082
-
Leu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes
-
Leu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol Cell Biol 1992;12:480-490.
-
(1992)
Mol Cell Biol
, vol.12
, pp. 480-490
-
-
King, M.P.1
Koga, Y.2
Davidson, M.3
Schon, E.A.4
-
14
-
-
1842353216
-
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
-
Kunkel LM, Smith KD, Boyer SH, Borgaonkar DS, Wachtel SS, Miller OJ, Breg WR, Jones HW, Rary JM: Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 1977;74:1245-1249.
-
(1977)
Proc Natl Acad Sci USA
, vol.74
, pp. 1245-1249
-
-
Kunkel, L.M.1
Smith, K.D.2
Boyer, S.H.3
Borgaonkar, D.S.4
Wachtel, S.S.5
Miller, O.J.6
Breg, W.R.7
Jones, H.W.8
Rary, J.M.9
-
15
-
-
0025345775
-
Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome
-
Larsson N-G, Holme E, Kristiansson B, Oldfors A, Tulinius M: Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res 1990;28:131-136.
-
(1990)
Pediatr Res
, vol.28
, pp. 131-136
-
-
Larsson, N.-G.1
Holme, E.2
Kristiansson, B.3
Oldfors, A.4
Tulinius, M.5
-
16
-
-
0026329666
-
Muscle histopathology in myoclonus epilepsy with ragged-red fibers (MERRF)
-
Matsuoka T, Goto Y, Yoneda M, Nonaka I: Muscle histopathology in myoclonus epilepsy with ragged-red fibers (MERRF). J Neurol Sci 1991;106:193-198.
-
(1991)
J Neurol Sci
, vol.106
, pp. 193-198
-
-
Matsuoka, T.1
Goto, Y.2
Yoneda, M.3
Nonaka, I.4
-
17
-
-
0024398752
-
Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome
-
Mita S, Schmidt B, Schon EA, DiMauro S, Bonilla E: Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. Proc Natl Acad Sci USA 1989;86:9509-9513.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 9509-9513
-
-
Mita, S.1
Schmidt, B.2
Schon, E.A.3
DiMauro, S.4
Bonilla, E.5
-
18
-
-
0029013728
-
Mitochondrial DNA mutation and muscle pathology in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
-
Mita S, Tokunaga M, Kumamoto T, Uchino M, Nonaka I, Ando M: Mitochondrial DNA mutation and muscle pathology in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. Muscle Nerve 1995;3(suppl): S113-S118.
-
(1995)
Muscle Nerve
, vol.3
, Issue.SUPPL.
-
-
Mita, S.1
Tokunaga, M.2
Kumamoto, T.3
Uchino, M.4
Nonaka, I.5
Ando, M.6
-
19
-
-
0026718556
-
Leu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): Genetic, biochemical, and morphological correlations in skeletal muscle
-
Leu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet 1992;50:934-949.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 934-949
-
-
Moraes, C.T.1
Ricci, E.2
Bonilla, E.3
DiMauro, S.4
Schon, E.A.5
-
20
-
-
0026907560
-
Molecular analysis of the muscle pathology associated with mitochondrial DMA deletions
-
Moraes CT, Ricci E, Petruzzella V, Shanske S, DiMauro S, Schon EA, Bonilla E: Molecular analysis of the muscle pathology associated with mitochondrial DMA deletions. Nat Genet 1992;1:359-367.
-
(1992)
Nat Genet
, vol.1
, pp. 359-367
-
-
Moraes, C.T.1
Ricci, E.2
Petruzzella, V.3
Shanske, S.4
DiMauro, S.5
Schon, E.A.6
Bonilla, E.7
-
21
-
-
0021143782
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
-
Pavlakis SG, Phillips PC, DiMauro S, DeVivo DC, Rowland LP: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Ann Neurol 1984;16:481-488.
-
(1984)
Ann Neurol
, vol.16
, pp. 481-488
-
-
Pavlakis, S.G.1
Phillips, P.C.2
DiMauro, S.3
DeVivo, D.C.4
Rowland, L.P.5
-
24
-
-
0028330313
-
Single muscle fiber analysis of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)
-
Tokunaga M, Mita S, Murakami T, Kumamoto T, Uchino M, Nonaka I, Ando M: Single muscle fiber analysis of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). Ann Neurol 1994;35:413-419.
-
(1994)
Ann Neurol
, vol.35
, pp. 413-419
-
-
Tokunaga, M.1
Mita, S.2
Murakami, T.3
Kumamoto, T.4
Uchino, M.5
Nonaka, I.6
Ando, M.7
-
25
-
-
0027419495
-
Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
-
Tokunaga M, Mita S, Sakuta R, Nonaka I, Araki S: Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Ann Neurol 1993;33:275-280.
-
(1993)
Ann Neurol
, vol.33
, pp. 275-280
-
-
Tokunaga, M.1
Mita, S.2
Sakuta, R.3
Nonaka, I.4
Araki, S.5
-
26
-
-
0029072326
-
Lys mutation and its complementation in MERRF patient-derived mitochondrial transformants
-
Lys mutation and its complementation in MERRF patient-derived mitochondrial transformants. Muscle Nerve 1995;3(suppl):S95-S101.
-
(1995)
Muscle Nerve
, vol.3
, Issue.SUPPL.
-
-
Yoneda, M.1
Miyatake, T.2
Attardi, G.3
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