-
1
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989;320:1293-1299
-
(1989)
N Engl J Med
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
DiMauro, S.2
Zeviani, M.3
-
2
-
-
0025986459
-
Mitochondrial DNA deletions in mitochondrial cytopathies: Observations in 19 patients
-
Yamamoto M, Clemens PR, Engel AG. Mitochondrial DNA deletions in mitochondrial cytopathies: observations in 19 patients. Neurology 1991;41:1822-1828
-
(1991)
Neurology
, vol.41
, pp. 1822-1828
-
-
Yamamoto, M.1
Clemens, P.R.2
Engel, A.G.3
-
3
-
-
0025666322
-
A mutation in the tRNA-Leu-(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Goto Y, Nonaka I, Horai S. A mutation in the tRNA-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
-
4
-
-
0026013299
-
Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
-
Tanaka M, Ino H, Ohno K, et al. Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem Biophys Res Commun 1991;174:861-868
-
(1991)
Biochem Biophys Res Commun
, vol.174
, pp. 861-868
-
-
Tanaka, M.1
Ino, H.2
Ohno, K.3
-
5
-
-
0028948888
-
High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy
-
Manfredi G, Servidei S, Bonilla E, et al. High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy. Neurology 1995;45: 762-768
-
(1995)
Neurology
, vol.45
, pp. 762-768
-
-
Manfredi, G.1
Servidei, S.2
Bonilla, E.3
-
6
-
-
0027230737
-
A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies
-
Brockington M, Sweeney MG, Hammans SR, et al. A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies. Nature Genet 1993;4:67-71
-
(1993)
Nature Genet
, vol.4
, pp. 67-71
-
-
Brockington, M.1
Sweeney, M.G.2
Hammans, S.R.3
-
8
-
-
0027077613
-
Autoimmune polyglandular syndromes
-
Riley WJ. Autoimmune polyglandular syndromes. Horm Res 1992;38(suppl 2):9-15
-
(1992)
Horm Res
, vol.38
, Issue.2 SUPPL.
, pp. 9-15
-
-
Riley, W.J.1
-
9
-
-
0027268052
-
Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin-dependent diabetics
-
Oka Y, Katagiri H, Yazaki Y, et al. Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin-dependent diabetics. Lancet 1993;342:527-528
-
(1993)
Lancet
, vol.342
, pp. 527-528
-
-
Oka, Y.1
Katagiri, H.2
Yazaki, Y.3
-
10
-
-
0025133424
-
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy
-
Rotig A, Cormier V, Blanche S, et al. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest 1990;86:1601-1608
-
(1990)
J Clin Invest
, vol.86
, pp. 1601-1608
-
-
Rotig, A.1
Cormier, V.2
Blanche, S.3
-
11
-
-
0028004453
-
Mitochondrial DNA: Does more lead to less?
-
Poulton J, Holt IJ. Mitochondrial DNA: does more lead to less? Nature Genet 1994;8:313-315
-
(1994)
Nature Genet
, vol.8
, pp. 313-315
-
-
Poulton, J.1
Holt, I.J.2
-
13
-
-
0026906885
-
Mutation in mitochondrial tRNA-Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
-
van den Ouweland JMW, Lemkes HHP, Ruitenbeek W, et al. Mutation in mitochondrial tRNA-Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genet 1992;1:368-371
-
(1992)
Nature Genet
, vol.1
, pp. 368-371
-
-
Van Den Ouweland, J.M.W.1
Lemkes, H.H.P.2
Ruitenbeek, W.3
-
14
-
-
0027447027
-
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and diabetes mellitus: Molecular genetic analysis and family study
-
Onishi H, Inoue K, Osaka H, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and diabetes mellitus: molecular genetic analysis and family study. J Neurol Sci 1993;114:205-208
-
(1993)
J Neurol Sci
, vol.114
, pp. 205-208
-
-
Onishi, H.1
Inoue, K.2
Osaka, H.3
-
15
-
-
0026468520
-
Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy
-
Obayashi T, Hattori K, Sugiyama S, et al. Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy. Am Heart J 1992;124:1263-1269
-
(1992)
Am Heart J
, vol.124
, pp. 1263-1269
-
-
Obayashi, T.1
Hattori, K.2
Sugiyama, S.3
-
16
-
-
0028365102
-
Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associated with a single point mutation in the mitochondrial tRNA-Leu(UUR) gene
-
van den Ouweland JMW, Lemkes PJ, Trembath RC, et al. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associated with a single point mutation in the mitochondrial tRNA-Leu(UUR) gene. Diabetes 1994;43:746-751
-
(1994)
Diabetes
, vol.43
, pp. 746-751
-
-
Van Den Ouweland, J.M.W.1
Lemkes, P.J.2
Trembath, R.C.3
-
17
-
-
0025915472
-
Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy
-
Ozawa T, Tanaka M, Sugiyama S, et al. Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy. Biochem Biophys Res Commun 1991;177: 518-525
-
(1991)
Biochem Biophys Res Commun
, vol.177
, pp. 518-525
-
-
Ozawa, T.1
Tanaka, M.2
Sugiyama, S.3
-
18
-
-
0027980845
-
Association of deletion and homoplasmic point mutation of the mitochondrial DNA in an ocular myopathy
-
Reynier P, Figarella-Branger D, Serratrice G, et al. Association of deletion and homoplasmic point mutation of the mitochondrial DNA in an ocular myopathy. Biochem Biophys Res Commun 1994;202:1606-1611
-
(1994)
Biochem Biophys Res Commun
, vol.202
, pp. 1606-1611
-
-
Reynier, P.1
Figarella-Branger, D.2
Serratrice, G.3
-
19
-
-
0026753354
-
A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I
-
Brown MD, Yang CC, Trounce I, et al. A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I. Am J Hum Genet 1992;51:378-385
-
(1992)
Am J Hum Genet
, vol.51
, pp. 378-385
-
-
Brown, M.D.1
Yang, C.C.2
Trounce, I.3
-
20
-
-
0026457825
-
Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy
-
Yoneda M, Chomyn A, Martinuzzi A, et al. Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. Proc Natl Acad Sci USA 1992;89:11164-11168
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 11164-11168
-
-
Yoneda, M.1
Chomyn, A.2
Martinuzzi, A.3
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