-
1
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt IJ, Harding AE, Morgan-Hughes JA. 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
-
2
-
-
0034005475
-
Mitochondrial myopathy diagnosis
-
Shoffner JM. Mitochondrial myopathy diagnosis. Neurol Clin, 2000, 18: 105-123.
-
(2000)
Neurol Clin
, vol.18
, pp. 105-123
-
-
Shoffner, J.M.1
-
3
-
-
0035512076
-
Mitochondrial encephalomyopathies: Gene mutation
-
Servidei S. Mitochondrial encephalomyopathies: gene mutation. Neuromuscul Disord, 2001, 11: 774-779.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 774-779
-
-
Servidei, S.1
-
4
-
-
0036637409
-
Detection of A3243G point mutation in mitochondrial DNA from 10 cases of MELAS
-
Wang ZX, Liu SP, Yang YL, et al. Detection of A3243G point mutation in mitochondrial DNA from 10 cases of MELAS. Natl Med J China, 2002, 115: 995-997.
-
(2002)
Natl Med J China
, vol.115
, pp. 995-997
-
-
Wang, Z.X.1
Liu, S.P.2
Yang, Y.L.3
-
5
-
-
84924635809
-
Retinitis pigmentosa, external ophthalmoplegia, and complete heart block: Unusual syndrome with histologic study in one of two cases
-
Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia, and complete heart block: unusual syndrome with histologic study in one of two cases. Arch Ophthal, 1958, 60,: 280-289.
-
(1958)
Arch Ophthal
, vol.60
, pp. 280-289
-
-
Kearns, T.P.1
Sayre, G.P.2
-
6
-
-
0024596946
-
A direct repeat is a hot-spot for large-scale deletion of human mitochondrial DNA
-
Schon EA, Rizzuto R, Moraes CT, et al. A direct repeat is a hot-spot for large-scale deletion of human mitochondrial DNA. Science, 1989, 244: 346-349.
-
(1989)
Science
, vol.244
, pp. 346-349
-
-
Schon, E.A.1
Rizzuto, R.2
Moraes, C.T.3
-
7
-
-
0024798264
-
Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA
-
Holt IJ, Harding AE, Cooper JM, et al. Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann Neurol, 1989, 26: 699-708.
-
(1989)
Ann Neurol
, vol.26
, pp. 699-708
-
-
Holt, I.J.1
Harding, A.E.2
Cooper, J.M.3
-
8
-
-
0024336469
-
Deletions of muscle mitochondrial DNA in mitochondrial myopathies: Sequence analysis and possible mechanisms
-
Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms. Nucleic Acids Res, 1989, 17: 4465-4469.
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 4465-4469
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
9
-
-
0024342089
-
Directly repeated sequences associated with pathogenic mitochondrial DNA deletions
-
Johns DR, Rutledge SL, Stine OC, et al. Directly repeated sequences associated with pathogenic mitochondrial DNA deletions. Proc Natl Acad Sci U S A, 1989, 86: 8059-8062.
-
(1989)
Proc Natl Acad Sci U S A
, vol.86
, pp. 8059-8062
-
-
Johns, D.R.1
Rutledge, S.L.2
Stine, O.C.3
-
10
-
-
0024317560
-
Spontaneous Kearns-Sayre / chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: A slip-replication model and metabolic therapy
-
Shoffner JM, Lott MT, Voljavec AS, et al. Spontaneous Kearns-Sayre / chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy. Proc Natl Acad Sci U S A, 1989, 86: 7952-7956.
-
(1989)
Proc Natl Acad Sci U S A
, vol.86
, pp. 7952-7956
-
-
Shoffner, J.M.1
Lott, M.T.2
Voljavec, A.S.3
-
11
-
-
0029817147
-
The mutation rate of the human mtDNA deletion mtDNA4977
-
Shenkar R, Navidi W, Tavare S, et al. The mutation rate of the human mtDNA deletion mtDNA4977. Am J Hum Genet, 1996, 59: 772-780.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 772-780
-
-
Shenkar, R.1
Navidi, W.2
Tavare, S.3
-
12
-
-
0033787312
-
Mitochondrial disorders
-
Schapira AH. Mitochondrial disorders. Curr Opin Neurol, 2000, 13: 527-532.
-
(2000)
Curr Opin Neurol
, vol.13
, pp. 527-532
-
-
Schapira, A.H.1
-
13
-
-
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). Biochem Biophys Acta, 1991, 1097: 238-240.
-
(1991)
Biochem Biophys Acta
, vol.1097
, pp. 238-240
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
14
-
-
0029971235
-
Leu(UUR) A→G mutation at np3243 of mitochondrial DNA, diabetic embryopathy associated with mitochondrial cytopathy
-
Leu(UUR) A→G mutation at np3243 of mitochondrial DNA, diabetic embryopathy associated with mitochondrial cytopathy. Am J Med Genet, 1996, 62: 404-409.
-
(1996)
Am J Med Genet
, vol.62
, pp. 404-409
-
-
Frigenbaum, A.1
Chitayat, D.2
Robinson, B.3
-
15
-
-
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, et al. 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 U S A, 1992, 89: 4221-4225.
-
(1992)
Proc Natl Acad Sci U S A
, vol.89
, pp. 4221-4225
-
-
Chomyn, A.1
Martinuzzi, A.2
Yoneda, M.3
-
16
-
-
0025845270
-
Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Hess JF, Parisi MA, Bennett JL, et al. Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature, 1991, 351: 236-239.
-
(1991)
Nature
, vol.351
, pp. 236-239
-
-
Hess, J.F.1
Parisi, M.A.2
Bennett, J.L.3
-
17
-
-
0036225534
-
A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitonchondial DNA with multiple deletions
-
Komaki H, Fukazawa T, Houzen H, et al. A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitonchondial DNA with multiple deletions. Ann Neurol, 2002, 51: 645-648.
-
(2002)
Ann Neurol
, vol.51
, pp. 645-648
-
-
Komaki, H.1
Fukazawa, T.2
Houzen, H.3
-
18
-
-
0021798888
-
Mitochondrial myopathies
-
Di Mauro S, Bonilla E, Zeviani M, et al. Mitochondrial myopathies. Ann Neurol, 1985, 17: 521-538.
-
(1985)
Ann Neurol
, vol.17
, pp. 521-538
-
-
Di Mauro, S.1
Bonilla, E.2
Zeviani, M.3
-
19
-
-
0027230538
-
Muscle carnitine deficiency and lipid storage myopathy in patients with mitochondrial myopathy
-
Campos Y, Huertas R, Bautista J, et al. Muscle carnitine deficiency and lipid storage myopathy in patients with mitochondrial myopathy. Muscle Nerve, 1993, 16: 778-781.
-
(1993)
Muscle Nerve
, vol.16
, pp. 778-781
-
-
Campos, Y.1
Huertas, R.2
Bautista, J.3
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