-
1
-
-
0027954269
-
Prognostic implications of novel β cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy
-
Anan R, Greve G, Thierfelder L, Watkins H, McKenna WJ, Solomon S, Vecchio C, Shono H, Nakao S, Tanaka H, Mares A, Towbin JA, Spirito P, Roberts R, Seidman JG, Seidman CE (1994) Prognostic implications of novel β cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest 93:280-285
-
(1994)
J Clin Invest
, vol.93
, pp. 280-285
-
-
Anan, R.1
Greve, G.2
Thierfelder, L.3
Watkins, H.4
McKenna, W.J.5
Solomon, S.6
Vecchio, C.7
Shono, H.8
Nakao, S.9
Tanaka, H.10
Mares, A.11
Towbin, J.A.12
Spirito, P.13
Roberts, R.14
Seidman, J.G.15
Seidman, C.E.16
-
2
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BG, De Bruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457-465
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
De Bruijn, 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.12
Staden, R.13
Young, I.G.14
-
3
-
-
0026531040
-
Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy
-
Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics 130: 163-173
-
(1992)
Genetics
, vol.130
, pp. 163-173
-
-
Brown, M.D.1
Voljavec, A.S.2
Lott, M.T.3
Torroni, A.4
Yang, C.C.5
Wallace, D.C.6
-
5
-
-
0029116474
-
A novel mtDNA point mutation in maternally inherited cardiomyopathy
-
Casali C, Santorelli FM, D'Amati G, Bernucci P, DeBiase L, DiMauro S (1995) A novel mtDNA point mutation in maternally inherited cardiomyopathy. Biochem Biophys Res Commun 213: 588-593
-
(1995)
Biochem Biophys Res Commun
, vol.213
, pp. 588-593
-
-
Casali, C.1
Santorelli, F.M.2
D'Amati, G.3
Bernucci, P.4
DeBiase, L.5
DiMauro, S.6
-
6
-
-
0025968499
-
In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy patient mitochondria
-
Chomyn A, Meola G, Bresolin N, Lai ST, Scarlato G, Attardi G (1991) In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy patient mitochondria. Mol Cell Biol 11:2236-2244
-
(1991)
Mol Cell Biol
, vol.11
, pp. 2236-2244
-
-
Chomyn, A.1
Meola, G.2
Bresolin, N.3
Lai, S.T.4
Scarlato, G.5
Attardi, G.6
-
7
-
-
0026074885
-
Hypoxemia is associated with mitochondrial DNA damage and gene induction: Implications for cardiac disease
-
Corral-Debrinski M, Stepien G, Shoffner JM, Lott MT, Kanter K, Wallace DC (1991) Hypoxemia is associated with mitochondrial DNA damage and gene induction: implications for cardiac disease. JAMA 266:1812-1816
-
(1991)
JAMA
, vol.266
, pp. 1812-1816
-
-
Corral-Debrinski, M.1
Stepien, G.2
Shoffner, J.M.3
Lott, M.T.4
Kanter, K.5
Wallace, D.C.6
-
8
-
-
0026671245
-
Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease
-
Corral-Debrinski M, Shoffner JM, Lott MT, Wallace DC (1992) Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease. Mutat Res 275:169-180
-
(1992)
Mutat Res
, vol.275
, pp. 169-180
-
-
Corral-Debrinski, M.1
Shoffner, J.M.2
Lott, M.T.3
Wallace, D.C.4
-
9
-
-
0025674177
-
Detection of a specific mitochondrial DNa deletion in tissues of older humans
-
Cortopassi GA, Arnheim N (1990) Detection of a specific mitochondrial DNA deletion in tissues of older humans. Nucleic Acids Res 18:6927-6933
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 6927-6933
-
-
Cortopassi, G.A.1
Arnheim, N.2
-
10
-
-
38249013430
-
Dilated cardiomyopathy in a zidovudine treated AIDS patient
-
D'Amati G, Kwan W, Lewis W (1992) Dilated cardiomyopathy in a zidovudine treated AIDS patient. Cardiovasc Pathol 1:317-320
-
(1992)
Cardiovasc Pathol
, vol.1
, pp. 317-320
-
-
D'Amati, G.1
Kwan, W.2
Lewis, W.3
-
11
-
-
0027166021
-
A second missense mutation in the mitochondrial ATPase6 gene in Leigh syndrome
-
De Vries DD, Van Engelen BG, Gabreels FJ, Ruitenbeek W, Van Oost BA (1993) A second missense mutation in the mitochondrial ATPase6 gene in Leigh syndrome. Ann Neurol 34:410-412
-
(1993)
Ann Neurol
, vol.34
, pp. 410-412
-
-
De Vries, D.D.1
Van Engelen, B.G.2
Gabreels, F.J.3
Ruitenbeek, W.4
Van Oost, B.A.5
-
12
-
-
0023429777
-
Cytochrome c oxidase deficiency in Leigh syndrome
-
DiMauro S, Servidei S, Zeviani M, DiRocco M, DeVivo DC, DiDonato S, Uziel G, Berry K, Hoganson G, Johnsen SD, Johnson PC (1987) Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 22:498-506
-
(1987)
Ann Neurol
, vol.22
, pp. 498-506
-
-
DiMauro, S.1
Servidei, S.2
Zeviani, M.3
DiRocco, M.4
DeVivo, D.C.5
DiDonato, S.6
Uziel, G.7
Berry, K.8
Hoganson, G.9
Johnsen, S.D.10
Johnson, P.C.11
-
13
-
-
0025666322
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348:651-653
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
14
-
-
0025905698
-
Mitochondrial encephalopathies: Molecular genetic diagnosis from blood samples
-
Hammans SR, Sweeney MG, Brockington M, Morgan-Hughes JA, Harding AE (1991) Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples. Lancet 337:1311-1313
-
(1991)
Lancet
, vol.337
, pp. 1311-1313
-
-
Hammans, S.R.1
Sweeney, M.G.2
Brockington, M.3
Morgan-Hughes, J.A.4
Harding, A.E.5
-
15
-
-
0025758425
-
Age-dependent increase in deleted mitochondrial DNA in the human heart: Possible contributory factor in presbycardia
-
Hattori K, Tanaka M, Sugiyama S, Obayashi T, Ito T, Satake T, Hanaki Y, Asai J, Nagano M, Ozawa T (1991) Age-dependent increase in deleted mitochondrial DNA in the human heart: possible contributory factor in presbycardia. Am Heart J 121:1735-1742
-
(1991)
Am Heart J
, vol.121
, pp. 1735-1742
-
-
Hattori, K.1
Tanaka, M.2
Sugiyama, S.3
Obayashi, T.4
Ito, T.5
Satake, T.6
Hanaki, Y.7
Asai, J.8
Nagano, M.9
Ozawa, T.10
-
16
-
-
0026564682
-
Cardiomyopathy associated with antiretroviral therapy in patients with HIV infection: A report of 6 cases
-
Herskowitz A, Willoughby SB, Baughman KL, Schulman SP, Bartlett JD (1992) Cardiomyopathy associated with antiretroviral therapy in patients with HIV infection: a report of 6 cases. Ann Intern Med 116:311-313
-
(1992)
Ann Intern Med
, vol.116
, pp. 311-313
-
-
Herskowitz, A.1
Willoughby, S.B.2
Baughman, K.L.3
Schulman, S.P.4
Bartlett, J.D.5
-
18
-
-
0023883150
-
Deletions of mtDNA in patients with mitochondrial myopathies
-
Holt IJ, Harding AE, Morgan-Hughes JA (1988) Deletions of mtDNA in patients with mitochondrial myopathies. Nature 331: 717-719
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
19
-
-
0028218473
-
Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy
-
Houshamond M, Larsson NG, Holme E, Oldfors A, Tulinius MH, Andersen O (1994) Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy. Biochem Biophys Acta 1226:49-55
-
(1994)
Biochem Biophys Acta
, vol.1226
, pp. 49-55
-
-
Houshamond, M.1
Larsson, N.G.2
Holme, E.3
Oldfors, A.4
Andersen O, T.M.H.5
-
21
-
-
0026573082
-
LEU mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes
-
LEU mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes. Mol Cell Biol 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
-
23
-
-
0025854830
-
Mutations in mitochondrial tRNa genes: A frequent cause of neuromuscular diseases
-
Lauber J, Marsac C, Kadenbach B, Seibel P (1991) Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases. Nucleic Acids Res 19:1393-1397
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 1393-1397
-
-
Lauber, J.1
Marsac, C.2
Kadenbach, B.3
Seibel, P.4
-
24
-
-
0025646076
-
Mitochondrial gene mutation: The aging process and degenerative diseases
-
Linnane AW, Baumer A, Maxwell RJ, Preston H, Zhang C, Marzuki S (1990) Mitochondrial gene mutation: the aging process and degenerative diseases. Biochem Int 22:1067-1076
-
(1990)
Biochem Int
, vol.22
, pp. 1067-1076
-
-
Linnane, A.W.1
Baumer, A.2
Maxwell, R.J.3
Preston, H.4
Zhang, C.5
Marzuki, S.6
-
25
-
-
0028990381
-
Mitochondrial toxicity of antiviral drugs
-
Lewis W, Dalakas MC (1995) Mitochondrial toxicity of antiviral drugs. Nature Med 1:417-422
-
(1995)
Nature Med
, vol.1
, pp. 417-422
-
-
Lewis, W.1
Dalakas, M.C.2
-
26
-
-
0029072026
-
Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy
-
Li YY, Hengstenberg C, Maisch B (1995) Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy. Biochem Biophys Res Commun 210:211-218
-
(1995)
Biochem Biophys Res Commun
, vol.210
, pp. 211-218
-
-
Li, Y.Y.1
Hengstenberg, C.2
Maisch, B.3
-
27
-
-
85047679319
-
Cardiomyopathy and abnormal mitochondrial function
-
Marin-Garcia J, Goldenthal MJ (1994) Cardiomyopathy and abnormal mitochondrial function. Cardiovasc Res 28:456-463
-
(1994)
Cardiovasc Res
, vol.28
, pp. 456-463
-
-
Marin-Garcia, J.1
Goldenthal, M.J.2
-
28
-
-
0028567937
-
Mitochondrial dysfunction in fatal infantile cardiomyopathy
-
Marin-Garcia J, Ananthakrishnan R, Carta M, Dubois R, Gu J, Goldenthal MJ (1994) Mitochondrial dysfunction in fatal infantile cardiomyopathy. J Inher Metab Dis 17:756-757
-
(1994)
J Inher Metab Dis
, vol.17
, pp. 756-757
-
-
Marin-Garcia, J.1
Ananthakrishnan, R.2
Carta, M.3
Dubois, R.4
Gu, J.5
Goldenthal, M.J.6
-
29
-
-
0029361568
-
Impaired mitochondrial function in idiopathic dilated cardiomyopathy: Biochemical and molecular analysis
-
Marin-Garcia J, Goldenthal MJ, Pierpont ME, Ananthakrishnan R (1995) Impaired mitochondrial function in idiopathic dilated cardiomyopathy: biochemical and molecular analysis. J Cardiac Fail 1:285-292
-
(1995)
J Cardiac Fail
, vol.1
, pp. 285-292
-
-
Marin-Garcia, J.1
Goldenthal, M.J.2
Pierpont, M.E.3
Ananthakrishnan, R.4
-
31
-
-
0029844705
-
Cardiac mitochondrial dysfunction in Leigh syndrome
-
Marin-Garcia J, Ananthakrishnan R, Korson M, Goldenthal MJ, Perez-Atayde A (1996) Cardiac mitochondrial dysfunction in Leigh syndrome. Pediatr Cardiol 17:387-389
-
(1996)
Pediatr Cardiol
, vol.17
, pp. 387-389
-
-
Marin-Garcia, J.1
Ananthakrishnan, R.2
Korson, M.3
Goldenthal, M.J.4
Perez-Atayde, A.5
-
32
-
-
0029901644
-
Mitochondrial function in children with idiopathic dilated cardiomyopathy
-
Marin-Garcia J, Goldenthal MJ, Ananthakrishnan R, Pierpont ME, Fricker FJ, Lipshultz SE, Perez-Atayde A (1996) Mitochondrial function in children with idiopathic dilated cardiomyopathy. J In-her Metab Dis 19:309-312
-
(1996)
J In-her Metab Dis
, vol.19
, pp. 309-312
-
-
Marin-Garcia, J.1
Goldenthal, M.J.2
Ananthakrishnan, R.3
Pierpont, M.E.4
Fricker, F.J.5
Lipshultz, S.E.6
Perez-Atayde, A.7
-
33
-
-
0030010205
-
Specific mitochondrial DNA deletions in idiopathic dilated cardiomyopathy
-
Marin-Garcia J, Goldenthal MJ, Ananthakrishnan R, Pierpont ME, Fricker FJ, Lipshultz S, Perez-Atayde A (1996) Specific mitochondrial DNA deletions in idiopathic dilated cardiomyopathy. Cardiovasc Res 31:306-314
-
(1996)
Cardiovasc Res
, vol.31
, pp. 306-314
-
-
Marin-Garcia, J.1
Goldenthal, M.J.2
Ananthakrishnan, R.3
Pierpont, M.E.4
Fricker, F.J.5
Lipshultz, S.6
Perez-Atayde, A.7
-
34
-
-
0027208229
-
Molecular genetic characterization of an X-linked form of Leigh's syndrome
-
Matthews PM, Marchington DR, Squier M, Land J, Brown R, Brown GK (1993) Molecular genetic characterization of an X-linked form of Leigh's syndrome. Ann Neurol 33:652-655
-
(1993)
Ann Neurol
, vol.33
, pp. 652-655
-
-
Matthews, P.M.1
Marchington, D.R.2
Squier, M.3
Land, J.4
Brown, R.5
Brown, G.K.6
-
36
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes CT, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda AF, Nakase H, Bonilla E, Werneck LC, Servidei S, Nonaka I, Koga Y, Spiro A, Brownell K, Schmidt B, Schotland D, Zupanc M, DeVivo DC, Schon EA, Rowland LP (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 520:1293-1299
-
(1989)
N Engl J Med
, vol.520
, pp. 1293-1299
-
-
Moraes, C.T.1
DiMauro, S.2
Zeviani, M.3
Lombes, A.4
Shanske, S.5
Miranda, A.F.6
Nakase, H.7
Bonilla, E.8
Werneck, L.C.9
Servidei, S.10
Nonaka, I.11
Koga, Y.12
Spiro, A.13
Brownell, K.14
Schmidt, B.15
Schotland, D.16
Zupanc, M.17
DeVivo, D.C.18
Schon, E.A.19
Rowland, L.P.20
more..
-
37
-
-
0026015896
-
mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
-
Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, Schon EA, DiMauro S (1991) mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 45:492-501
-
(1991)
Am J Hum Genet
, vol.45
, pp. 492-501
-
-
Moraes, C.T.1
Shanske, S.2
Tritschler, H.J.3
Aprille, J.R.4
Andreetta, F.5
Bonilla, E.6
Schon, E.A.7
DiMauro, S.8
-
38
-
-
0027161003
-
A mitochondrial tRNa anticodon swap associated with a muscle disease
-
Moraes CT, Ciacci F, Bonilla E, Ionasescu VV, Schon EA, Di-Mauro S (1993) A mitochondrial tRNA anticodon swap associated with a muscle disease. Nature Genet 4:284-288
-
(1993)
Nature Genet
, vol.4
, pp. 284-288
-
-
Moraes, C.T.1
Ciacci, F.2
Bonilla, E.3
Ionasescu, V.V.4
Schon, E.A.5
Di-Mauro, S.6
-
39
-
-
0027145131
-
Leulul(UUR)gene an etiologic hot spot?
-
Leulul(UUR)gene an etiologic hot spot? J Clin Invest 92:2906-2915
-
(1993)
J Clin Invest
, vol.92
, pp. 2906-2915
-
-
Moraes, C.T.1
Ciacci, F.2
Bonilla, E.3
Jansen, C.4
Hirano, M.5
Rao, N.6
Lovelace, R.E.7
Rowland, L.P.8
Schon, E.A.9
DiMauro, S.10
-
40
-
-
0029029469
-
Mitochondrial DNA (mtDNA) diseases: Correlation of genotype to phenotype
-
Morgan-Hughes JA, Sweeney MG, Cooper JM, Hammans SR, Brockington M, Schapira AH, Harding AE, Clark JB (1995) Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. Biochem Biophys Acta 1271:135-140
-
(1995)
Biochem Biophys Acta
, vol.1271
, pp. 135-140
-
-
Morgan-Hughes, J.A.1
Sweeney, M.G.2
Cooper, J.M.3
Hammans, S.R.4
Brockington, M.5
Schapira, A.H.6
Harding, A.E.7
Clark, J.B.8
-
41
-
-
0026468520
-
Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy
-
Obayashi T, Hattori K, Sugiyama S, Tanaka M, ,Tanaka T, Itoyama S, Deguchi H, Kawamura K, Koga Y, Toshima H, Takeda N, Nagano M, Ito T, Ozawa T (1992) Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy. Am Heart J 124:1263-1269
-
(1992)
Am Heart J
, vol.124
, pp. 1263-1269
-
-
Obayashi, T.1
Hattori, K.2
Sugiyama, S.3
Tanaka, M.4
Tanaka, T.5
Itoyama, S.6
Deguchi, H.7
Kawamura, K.8
Koga, Y.9
Toshima, H.10
Takeda, N.11
Nagano, M.12
Ito, T.13
Ozawa, T.14
-
42
-
-
0025004427
-
Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy
-
Ozawa T, Tanaka M, Sugiyama S, Hattori K, Ito T, Ohno K, Takahashi A, Sato W, Takada G, Mayumi B, Yamamoto K, Adachi K. Koga Y, Toshima H (1990) Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy. Biochem Biophys Res Commun 170:830-836
-
(1990)
Biochem Biophys Res Commun
, vol.170
, pp. 830-836
-
-
Ozawa, T.1
Tanaka, M.2
Sugiyama, S.3
Hattori, K.4
Ito, T.5
Ohno, K.6
Takahashi, A.7
Sato, W.8
Takada, G.9
Mayumi, B.10
Yamamoto, K.11
Adachi, K.12
Koga, Y.13
Toshima, H.14
-
43
-
-
0028842405
-
Genotype and phenotype of severe mitochondrial cardiomyopathy: A recipient of heart transplantation and the genetic control
-
Ozawa T, Katsumata K, Hayakawa M, Tanaka M, Sugiyama S, Tanaka T, Itoyama S, Numoda S, Sekiguchi M (1995) Genotype and phenotype of severe mitochondrial cardiomyopathy: a recipient of heart transplantation and the genetic control. Biochem Biophys Res Commun 207:613-619
-
(1995)
Biochem Biophys Res Commun
, vol.207
, pp. 613-619
-
-
Ozawa, T.1
Katsumata, K.2
Hayakawa, M.3
Tanaka, M.4
Sugiyama, S.5
Tanaka, T.6
Itoyama, S.7
Numoda, S.8
Sekiguchi, M.9
-
44
-
-
0029026639
-
Mechanisms of somatic mitochondrial DNA muations associated with age and diseases
-
Ozawa T (1995) Mechanisms of somatic mitochondrial DNA muations associated with age and diseases. Biochem Biophys Acta 1271:177-189
-
(1995)
Biochem Biophys Acta
, vol.1271
, pp. 177-189
-
-
Ozawa, T.1
-
45
-
-
0021186586
-
Histiocytoid cardiomyopathy of infancy: Deficiency of reducible cytochrome b in heart mitochondria
-
Papadirmitriou A, Neustein HB, DiMauro S, Stanton R, Bresolin N (1984) Histiocytoid cardiomyopathy of infancy: deficiency of reducible cytochrome b in heart mitochondria. Pediatr Res 18:1023-1028
-
(1984)
Pediatr Res
, vol.18
, pp. 1023-1028
-
-
Papadirmitriou, A.1
Neustein, H.B.2
DiMauro, S.3
Stanton, R.4
Bresolin, N.5
-
46
-
-
0028355321
-
Leigh syndrome and hypertrophic cardiomy-opathy in an infant with a mitochondrial point mutation (T8993G)
-
Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP (1994) Leigh syndrome and hypertrophic cardiomy-opathy in an infant with a mitochondrial point mutation (T8993G). Amer J Med Genet 50:265-271
-
(1994)
Amer J Med Genet
, vol.50
, pp. 265-271
-
-
Pastores, G.M.1
Santorelli, F.M.2
Shanske, S.3
Gelb, B.D.4
Fyfe, B.5
Wolfe, D.6
Willner, J.P.7
-
47
-
-
0028930787
-
Variation in mitochondrial DNa levels in muscle from normal controls. Is depletion of mtDNa in patients with mitochondrial myopathy a distinct clinical syndrome?
-
Poulton J, Sewry C, Potter CG, Bougeron T, Chretien D, Wijberg FA, Morten KJ, Brown G (1995) Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome? J Inher Metab Dis 18:4-20
-
(1995)
J Inher Metab Dis
, vol.18
, pp. 4-20
-
-
Poulton, J.1
Sewry, C.2
Potter, C.G.3
Bougeron, T.4
Chretien, D.5
Wijberg, F.A.6
Morten, K.J.7
Brown, G.8
-
48
-
-
0028348826
-
Mitochondrial DNa deletions in dilated cardiomyopathy: A clinical study employing endomyocardial samplina
-
Remes AM, Hassinen IE, Ikaheimo MJ, Herva R, Hirvonen J, Peuhkurinen KJ (1994) Mitochondrial DNA deletions in dilated cardiomyopathy: a clinical study employing endomyocardial samplina. J Am Coll Cardiol 23:935-942
-
(1994)
J Am Coll Cardiol
, vol.23
, pp. 935-942
-
-
Remes, A.M.1
Hassinen, I.E.2
Ikaheimo, M.J.3
Herva, R.4
Hirvonen, J.5
Peuhkurinen, K.J.6
-
49
-
-
0029559598
-
Accumulation of deletions in mtDNA during tissue aging analysis by long PCR
-
Reynier P, Malthiery Y (1995) Accumulation of deletions in mtDNA during tissue aging analysis by long PCR. Biochem Biophys Res Commun 217:59-67
-
(1995)
Biochem Biophys Res Commun
, vol.217
, pp. 59-67
-
-
Reynier, P.1
Malthiery, Y.2
-
50
-
-
0001607995
-
Acyl CoA deficiencies
-
Scriver CR, Beaudet AL, Slys WS, Valle D (eds) McGraw-Hill: New York
-
Roe CR, Coates PM (1989) Acyl CoA deficiencies. In: Scriver CR, Beaudet AL, Slys WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill: New York, pp 889-914
-
(1989)
The Metabolic Basis of Inherited Disease, 6th Edn.
, pp. 889-914
-
-
Roe, C.R.1
Coates, P.M.2
-
51
-
-
0028010899
-
Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies
-
Rustin P, Lebidois J, Chrétien D, Bourgeron T, Piechaud JF, Rotig A, Munnich A, Sidi D (1994) Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies. J Pediatr 124:224-228
-
(1994)
J Pediatr
, vol.124
, pp. 224-228
-
-
Rustin, P.1
Lebidois, J.2
Chrétien, D.3
Bourgeron, T.4
Piechaud, J.F.5
Rotig, A.6
Munnich, A.7
Sidi, D.8
-
52
-
-
0019981859
-
Hypertrophic cardiomyopathy is a component of subacute necrotizing encephalomyelopathy
-
Rutledge JC, Haas JE, Monnat R, Milstein JM (1982) Hypertrophic cardiomyopathy is a component of subacute necrotizing encephalomyelopathy. J Pediatr 101:706-710
-
(1982)
J Pediatr
, vol.101
, pp. 706-710
-
-
Rutledge, J.C.1
Haas, J.E.2
Monnat, R.3
Milstein, J.M.4
-
53
-
-
0028182912
-
A T→C mutation at nt 8993 of mitochondrial DNa in a child with Leigh syndrome
-
Santorelli FM, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S (1994) A T→C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology 44:972-974
-
(1994)
Neurology
, vol.44
, pp. 972-974
-
-
Santorelli, F.M.1
Shanske, S.2
Jain, K.D.3
Tick, D.4
Schon, E.A.5
DiMauro, S.6
-
54
-
-
0028786838
-
A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy
-
Santorelli FM, Mak S-C, Vazquez-Acevedo M, Gonzalez-Astiazaran A, Ridaura-Sanz C, Gonzalez-Halphen D, DiMauro S (1995) A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy. Biochem Biophys Res Commun 216:835-840
-
(1995)
Biochem Biophys Res Commun
, vol.216
, pp. 835-840
-
-
Santorelli, F.M.1
Mak, S.-C.2
Vazquez-Acevedo, M.3
Gonzalez-Astiazaran, A.4
Ridaura-Sanz, C.5
Gonzalez-Halphen, D.6
DiMauro, S.7
-
55
-
-
0029962873
-
Lys gene (G8363)
-
Lys gene (G8363). Am J Hum Genet 58:933-939
-
(1996)
Am J Hum Genet
, vol.58
, pp. 933-939
-
-
Santorelli, F.M.1
Mak, S.-C.2
El-Schahawi, M.3
Casali, C.4
Shanske, S.5
Baram, T.Z.6
Madrid, R.E.7
DiMauro, S.8
-
56
-
-
0025634117
-
Identification of point mutations by mispairing PCR as exemplified in MERRF disease
-
Seibel P, DeGoul F, Romero N, Marsac C, Kadenbach B (1990) Identification of point mutations by mispairing PCR as exemplified in MERRF disease. Biochem Biophys Res Commun 173:561-565
-
(1990)
Biochem Biophys Res Commun
, vol.173
, pp. 561-565
-
-
Seibel, P.1
DeGoul, F.2
Romero, N.3
Marsac, C.4
Kadenbach, B.5
-
57
-
-
0013553608
-
Familial infantile myopathy and cardiomyopathy with deficiency of cytochrome c oxidase and mitochondrial adenosine triphosphate synthase
-
Servidei S, Bertini E, Manfred! G, Dionnisi Vici C, Silvestri G, Ricci E, Burlina A, Tonali P (1993) Familial infantile myopathy and cardiomyopathy with deficiency of cytochrome c oxidase and mitochondrial adenosine triphosphate synthase. Ann Neurol 34: 463-464
-
(1993)
Ann Neurol
, vol.34
, pp. 463-464
-
-
Servidei, S.1
Bertini, E.2
Manfred, G.3
Dionnisi Vici, C.4
Silvestri, G.5
Ricci, E.6
Burlina, A.7
Tonali, P.8
-
58
-
-
0024317560
-
Spontaneous Kearns-Sayre chronic ophthalmoplegia plus syndrome associated with mitochondrial DNa deletion: A slip replication model and metabolic therapy
-
Shoffner JM, Lett MT, Voljavec AS, Soueidan A, Costigan DA, Wallace DC (1989) Spontaneous Kearns-Sayre chronic ophthalmoplegia plus syndrome associated with mitochondrial DNA deletion: a slip replication model and metabolic therapy. Proc Natl Acad Sci USA 86:7952-7956
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 7952-7956
-
-
Shoffner, J.M.1
Lett, M.T.2
Voljavec, A.S.3
Soueidan, A.4
Costigan, D.A.5
Wallace, D.C.6
-
60
-
-
0026892973
-
Heart disease and mitochondrial DNA mutations
-
Shoffner JM, Wallace DC (1992) Heart disease and mitochondrial DNA mutations. Heart Dis Stroke 1:235-241
-
(1992)
Heart Dis Stroke
, vol.1
, pp. 235-241
-
-
Shoffner, J.M.1
Wallace, D.C.2
-
61
-
-
0028037791
-
Oxidative phosphorylation dis7 eases and mitochondrial DNA mutations: Diagnosis and treatment
-
Shoffner JM, Wallace DC (1994) Oxidative phosphorylation dis7 eases and mitochondrial DNA mutations: diagnosis and treatment. Annu Rev Nutr 14:535-568
-
(1994)
Annu Rev Nutr
, vol.14
, pp. 535-568
-
-
Shoffner, J.M.1
Wallace, D.C.2
-
62
-
-
0027190874
-
Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ("MERFF" mutation)
-
Silvestri G, Ciafaloni E, Santorelli FM, Shanske S, Servidei S, Graf WD, Sumi M, DiMauro S (1993) Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ("MERFF" mutation). Neurology 43:1200-1206
-
(1993)
Neurology
, vol.43
, pp. 1200-1206
-
-
Silvestri, G.1
Ciafaloni, E.2
Santorelli, F.M.3
Shanske, S.4
Servidei, S.5
Graf, W.D.6
Sumi, M.7
DiMauro, S.8
-
64
-
-
0026463567
-
Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA
-
Suomalainen A, Paetau A, Leinonen H, Majander A, Peltonen L, Somer H (1992) Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA. Lancet 340:1319-1320
-
(1992)
Lancet
, vol.340
, pp. 1319-1320
-
-
Suomalainen, A.1
Paetau, A.2
Leinonen, H.3
Majander, A.4
Peltonen, L.5
Somer, H.6
-
65
-
-
0026712954
-
Use of single strand polymorphism analysis to detect point mutations in human mitochondrial DNA
-
Suomalainen A, Ciafaloni E, Koga Y, Peltonen L, DiMauro S, Schon EA (1992) Use of single strand polymorphism analysis to detect point mutations in human mitochondrial DNA. J Neurol Sci 111:222-226
-
(1992)
J Neurol Sci
, vol.111
, pp. 222-226
-
-
Suomalainen, A.1
Ciafaloni, E.2
Koga, Y.3
Peltonen, L.4
DiMauro, S.5
Schon, E.A.6
-
66
-
-
0028833524
-
An auto-somal locus predisposing to deletions of mitochondrial DNA
-
Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H, Peltonen L (1995) An auto-somal locus predisposing to deletions of mitochondrial DNA. Nature Genet 9:146-151
-
(1995)
Nature Genet
, vol.9
, pp. 146-151
-
-
Suomalainen, A.1
Kaukonen, J.2
Amati, P.3
Timonen, R.4
Haltia, M.5
Weissenbach, J.6
Zeviani, M.7
Somer, H.8
Peltonen, L.9
-
67
-
-
0028047561
-
Mitochondrial DNa mutation underlying Leigh's syndrome: Clinical, pathological, biochemical and genetic studies of a patient presenting with progressive myoclonic epilepsy
-
Sweeney MG, Hammans SR, Duchen LW, Cooper JM, Schapira AH, Kennedy CR, Jacobs JM, Youl BD, Morgan-Hughes JA, Harding AE (1994) Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical and genetic studies of a patient presenting with progressive myoclonic epilepsy. J Neurol Sci 127:57-65
-
(1994)
J Neurol Sci
, vol.127
, pp. 57-65
-
-
Sweeney, M.G.1
Hammans, S.R.2
Duchen, L.W.3
Cooper, J.M.4
Schapira, A.H.5
Kennedy, C.R.6
Jacobs, J.M.7
Youl, B.D.8
Morgan-Hughes, J.A.9
Harding, A.E.10
-
68
-
-
0025260002
-
Mitochondria mutation in fatal infantile cardiomyopathy
-
Tanaka M, Ino H, Ohno K, Hattori K, Sato W, Ozawa T, Tanaka T, Itoyama S, (1990) Mitochondria mutation in fatal infantile cardiomyopathy. Lancet 336:1452
-
(1990)
Lancet
, vol.336
, pp. 1452
-
-
Tanaka, M.1
Ino, H.2
Ohno, K.3
Hattori, K.4
Sato, W.5
Ozawa, T.6
Tanaka, T.7
Itoyama, S.8
-
69
-
-
0026660498
-
Ile mutation in fatal cardiomyopathy
-
Ile mutation in fatal cardiomyopathy. Biochem Biophys Res Commun 186:47-53
-
(1992)
Biochem Biophys Res Commun
, vol.186
, pp. 47-53
-
-
Taniike, M.1
Fukushima, H.2
Yanagihara, I.3
Tsukamoto, H.4
Tanaka, J.5
Fujimura, H.6
Nagai, T.7
Sano, T.8
Yamaoka, K.9
Inui, K.10
Okada, S.11
-
70
-
-
0026566850
-
Heteroplasmic mitochondrial DNA mutation (T to G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
-
Tatuch Y, Christodolou J, Feigenbaum A, Clark JT, Wherret J, Smith C, Rudd N, Petrova-Benedict R, Robinson BH (1992) Heteroplasmic mitochondrial DNA mutation (T to G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 50:852-858
-
(1992)
Am J Hum Genet
, vol.50
, pp. 852-858
-
-
Tatuch, Y.1
Christodolou, J.2
Feigenbaum, A.3
Clark, J.T.4
Wherret, J.5
Smith, C.6
Rudd, N.7
Petrova-Benedict, R.8
Robinson, B.H.9
-
71
-
-
0027244336
-
The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria
-
Tatuch Y, Robinson BH (1993) The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria. Biochem Biophys Res Commun 192:124-128
-
(1993)
Biochem Biophys Res Commun
, vol.192
, pp. 124-128
-
-
Tatuch, Y.1
Robinson, B.H.2
-
72
-
-
0028353903
-
The 8993 mtDNA mutation: Heteroplasmy and clinical presentation in three families
-
Tatuch Y, Pagon RA, Vlcek B, Roberts R, Korson M, Robinson BH (1994) The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families. Eur J Hum Genet 2:35-43
-
(1994)
Eur J Hum Genet
, vol.2
, pp. 35-43
-
-
Tatuch, Y.1
Pagon, R.A.2
Vlcek, B.3
Roberts, R.4
Korson, M.5
Robinson, B.H.6
-
73
-
-
0027215234
-
Molecular genetics of cardiomyopathy
-
Towbin J (1993) Molecular genetics of cardiomyopathy. Biochem Med Metab Biol 49:285-320
-
(1993)
Biochem Med Metab Biol
, vol.49
, pp. 285-320
-
-
Towbin, J.1
-
74
-
-
0026624980
-
Diseases of the mitochondrial DNA
-
Wallace DC (1992). Diseases of the mitochondrial DNA. Annu Rev Biochem 61:1175-1212
-
(1992)
Annu Rev Biochem
, vol.61
, pp. 1175-1212
-
-
Wallace, D.C.1
-
75
-
-
0028574053
-
Mitochondrial DNA sequence variation in human evolution and disease
-
Wallace DC (1994) Mitochondrial DNA sequence variation in human evolution and disease. Proc Natl Acad Sci USA 91:8739-8746
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 8739-8746
-
-
Wallace, D.C.1
-
76
-
-
0026573969
-
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
-
Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman C, Seidman J (1992) Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Eng J Med 326:1108-1114
-
(1992)
N Eng J Med
, vol.326
, pp. 1108-1114
-
-
Watkins, H.1
Rosenzweig, A.2
Hwang, D.S.3
Levi, T.4
McKenna, W.5
Seidman, C.6
Seidman, J.7
-
78
-
-
0022975558
-
Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency
-
Zeviani M, Van Dyke DH, Servidei E, Bauserman SC, Bonilla E, Beaumont ET, Sharda J, VanderLaan K, DiMauro S (1986) Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency. Arch Neurol 43:1198-1202
-
(1986)
Arch Neurol
, vol.43
, pp. 1198-1202
-
-
Zeviani, M.1
Van Dyke, D.H.2
Servidei, E.3
Bauserman, S.C.4
Bonilla, E.5
Beaumont, E.T.6
Sharda, J.7
Vanderlaan, K.8
DiMauro, S.9
-
79
-
-
0023813744
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
-
Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA, Rowland LP (1988) Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38:1339-1346
-
(1988)
Neurology
, vol.38
, pp. 1339-1346
-
-
Zeviani, M.1
Moraes, C.T.2
DiMauro, S.3
Nakase, H.4
Bonilla, E.5
Schon, E.A.6
Rowland, L.P.7
-
80
-
-
0024601360
-
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D loop region
-
Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S (1989) An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D loop region. Nature 339: 309-311
-
(1989)
Nature
, vol.339
, pp. 309-311
-
-
Zeviani, M.1
Servidei, S.2
Gellera, C.3
Bertini, E.4
DiMauro, S.5
DiDonato, S.6
-
82
-
-
0025807222
-
Leu
-
Leu. Lancet 338:143-147
-
(1991)
Lancet
, vol.338
, pp. 143-147
-
-
Zeviani, M.1
Gellera, C.2
Antozzi, C.3
Rimoldi, M.4
Morandi, L.5
Villani, F.6
Tiranti, V.7
DiDonato, S.8
-
83
-
-
0026715879
-
Nucleus-driven mutations of human mitochondrial DNA
-
Zeviani M (1992) Nucleus-driven mutations of human mitochondrial DNA. J Inher Metab Dis 15:456-471
-
(1992)
J Inher Metab Dis
, vol.15
, pp. 456-471
-
-
Zeviani, M.1
-
84
-
-
0026532722
-
Multiple mitochondrial DNA deletions in an elderly human individual
-
Zhang C, Baumer A, Maxwell RJ, Linnane AW, Nagley P (1992) Multiple mitochondrial DNA deletions in an elderly human individual. FEBS Lett 297:34-38
-
(1992)
FEBS Lett
, vol.297
, pp. 34-38
-
-
Zhang, C.1
Baumer, A.2
Maxwell, R.J.3
Linnane, A.W.4
Nagley, P.5
|