-
1
-
-
0027512874
-
Mitochondrial diseases - Genotype versus phenotype
-
Wallace, D.C. (1993) Mitochondrial diseases - genotype versus phenotype. Trends Genet., 9, 123-128.
-
(1993)
Trends Genet.
, vol.9
, pp. 123-128
-
-
Wallace, D.C.1
-
2
-
-
0028288558
-
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
-
Reid, F.M., Vernham, G.A. and Jacobs, H.T. (1994) A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum. Mutat., 3, 243-247.
-
(1994)
Hum. Mutat.
, vol.3
, pp. 243-247
-
-
Reid, F.M.1
Vernham, G.A.2
Jacobs, H.T.3
-
3
-
-
0028847380
-
Mitochondrial mutation associated with nonsyndromic deafness
-
Fischel-Ghodsian, N., Prezant, T.R., Fournier, P., Stewart, I.A. and Maw, M. (1995) Mitochondrial mutation associated with nonsyndromic deafness. Am. J. Otolaryngol., 16, 403-408.
-
(1995)
Am. J. Otolaryngol.
, vol.16
, pp. 403-408
-
-
Fischel-Ghodsian, N.1
Prezant, T.R.2
Fournier, P.3
Stewart, I.A.4
Maw, M.5
-
4
-
-
0028094531
-
Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness
-
Reid, F.M., Vernham, G.A. and Jacobs, H.T. (1994) Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness. Hum. Mol. Genet., 3, 1435-1436.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1435-1436
-
-
Reid, F.M.1
Vernham, G.A.2
Jacobs, H.T.3
-
5
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson, S., Bankier, A.T., Barrell, B.G., de Bruijn, M.H.L., Coulson, A.R., Drouin, J., Eperon, I.C., Nierlich, D.P., Roe, B.A., Sanger, F., Schreier, P.H., Smith, A.J.H., Staden, R. and Young, I.G. (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.H.12
Staden, R.13
Young, I.G.14
-
6
-
-
0026014994
-
A novel cloverleaf structure found in mammalian mitochondrial transfer RNA-ser(UCN)
-
Yokogawa, T., Watanahe, Y., Kumazawa, Y., Ueda, T., Hirao, I., Miura, K. and Watanabe, K. (1991) A novel cloverleaf structure found in mammalian mitochondrial transfer RNA-ser(UCN). Nucleic Acids Res., 19, 6101-1605.
-
(1991)
Nucleic Acids Res.
, vol.19
, pp. 6101-11605
-
-
Yokogawa, T.1
Watanahe, Y.2
Kumazawa, Y.3
Ueda, T.4
Hirao, I.5
Miura, K.6
Watanabe, K.7
-
7
-
-
0023664627
-
Separation and characterization of 5′ and 3′ transfer RNA processing nucleases from rat-liver mitochondria
-
Manam, S. and Van Tuyle, G.C. (1987) Separation and characterization of 5′ and 3′ transfer RNA processing nucleases from rat-liver mitochondria. J. Biol. Chem., 262, 10272-10279.
-
(1987)
J. Biol. Chem.
, vol.262
, pp. 10272-10279
-
-
Manam, S.1
Van Tuyle, G.C.2
-
8
-
-
0019444843
-
Transfer RNA punctuation model of RNA processing in human mitochondria
-
Ojala, D., Montoya, J. and Attardi, G. (1981) Transfer RNA punctuation model of RNA processing in human mitochondria. Nature, 290, 470-474.
-
(1981)
Nature
, vol.290
, pp. 470-474
-
-
Ojala, D.1
Montoya, J.2
Attardi, G.3
-
9
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant, T.R., Agapian, J.V., Bohlman, M.C., Bu, X., Ötzas, S., Qiu, W.-Q., Arnos, K.S., Cortopassi, G.A., Jaber, L., Rotter, J.I., Shohat, M. and Fischel-Ghodsian, N. (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nature Genet., 4, 289-294.
-
(1993)
Nature Genet.
, vol.4
, pp. 289-294
-
-
Prezant, T.R.1
Agapian, J.V.2
Bohlman, M.C.3
Bu, X.4
Ötzas, S.5
Qiu, W.-Q.6
Arnos, K.S.7
Cortopassi, G.A.8
Jaber, L.9
Rotter, J.I.10
Shohat, M.11
Fischel-Ghodsian, N.12
-
10
-
-
0027484278
-
An accuracy center in the ribosome conserved over 2 billion years
-
Alksne, L.E., Anthony, R.A., Liebman, S.W. and Warner, J.R. (1993) An accuracy center in the ribosome conserved over 2 billion years. Proc. Natl. Acad. Sci. USA, 90, 9538-9541.
-
(1993)
Proc. Natl. Acad. Sci. USA
, vol.90
, pp. 9538-9541
-
-
Alksne, L.E.1
Anthony, R.A.2
Liebman, S.W.3
Warner, J.R.4
-
11
-
-
0025995774
-
Electron transfer properties of NADH-ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)
-
Majander, A., Huoponen, K., Savontaus, M.-L., Nikoskelainen. E. and Wilkstrom, M. (1991) Electron transfer properties of NADH-ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON). FEBS Lett., 292, 289-292.
-
(1991)
FEBS Lett.
, vol.292
, pp. 289-292
-
-
Majander, A.1
Huoponen, K.2
Savontaus, M.-L.3
Nikoskelainen, E.4
Wilkstrom, M.5
-
12
-
-
0028349620
-
Platelet mitochondrial function in Leber's hereditary optic neuropathy
-
Smith, P.R., Cooper, J.M., Govan, G.G., Harding, A.E., Schapira, A.H.V. (1994) Platelet mitochondrial function in Leber's hereditary optic neuropathy J. Neurol. Sci., 122, 80-83.
-
(1994)
J. Neurol. Sci.
, vol.122
, pp. 80-83
-
-
Smith, P.R.1
Cooper, J.M.2
Govan, G.G.3
Harding, A.E.4
Schapira, A.H.V.5
-
13
-
-
0021061819
-
Rapid colorimetric assay for cellular growth and survival - Application to proliferation and cyto-toxicity assays
-
Mosmann, T. (1983) Rapid colorimetric assay for cellular growth and survival - application to proliferation and cyto-toxicity assays. J. Immunol. Met., 65, 55-63.
-
(1983)
J. Immunol. Met.
, vol.65
, pp. 55-63
-
-
Mosmann, T.1
-
14
-
-
0023022289
-
An improved colorimetric assay for interleukin-2
-
Tada, H., Shiho, O., Kuroshima, K., Koyama, M. and Tsukamoto, K. (1986) An improved colorimetric assay for interleukin-2. J. Immunol. Met., 93, 157-165.
-
(1986)
J. Immunol. Met.
, vol.93
, pp. 157-165
-
-
Tada, H.1
Shiho, O.2
Kuroshima, K.3
Koyama, M.4
Tsukamoto, K.5
-
15
-
-
0000831016
-
Determination with LDH, GPT, and NAD
-
Bergmeyer, H.U. (ed.), Academic Press, New York
-
Noll, F. (1974) Determination with LDH, GPT, and NAD. In Bergmeyer, H.U. (ed.), Methods in Enzymatic Analysis. Academic Press, New York, Vol 3, pp. 1475-1479.
-
(1974)
Methods in Enzymatic Analysis
, vol.3
, pp. 1475-1479
-
-
Noll, F.1
-
16
-
-
0030059913
-
Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids
-
Dunbar, D.R., Moonie, P. A., Zeviani, M. and Holt, I.J. (1996) Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids. Hum. Mol. Genet., 5, 123-129.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 123-129
-
-
Dunbar, D.R.1
Moonie, P.A.2
Zeviani, M.3
Holt, I.J.4
-
17
-
-
2042432480
-
Cytochrome oxidase from beef heart mitochondria
-
Wharton, D.C. and Tzagaloff, A. (1967) Cytochrome oxidase from beef heart mitochondria. Methods Enzymol., 10, 245-250.
-
(1967)
Methods Enzymol.
, vol.10
, pp. 245-250
-
-
Wharton, D.C.1
Tzagaloff, A.2
-
18
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidinium thiocyanate phenol chloroform extraction
-
Chomczynski, P. and Sacchi, N. (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate phenol chloroform extraction. Anal. Biochem., 162, 156-159.
-
(1987)
Anal. Biochem.
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
19
-
-
0023100360
-
Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase - Clues to pathogenesis of Leigh disease
-
Robinson, BH., Demeirleir, L., Glerum, M., Sherwood, G. and Becker, L. (1987) Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase - clues to pathogenesis of Leigh disease. J. Pediatr., 110, 216-222.
-
(1987)
J. Pediatr.
, vol.110
, pp. 216-222
-
-
Robinson, B.H.1
Demeirleir, L.2
Glerum, M.3
Sherwood, G.4
Becker, L.5
-
20
-
-
0025807180
-
Mitochondrial encephalomyopathies in childhood. 2. Clinical manifestations and syndromes
-
Tulinius, M.H. Holme, E., Kristansson, B., Larsson, N.G. and Oldfors, A. (1991) Mitochondrial encephalomyopathies in childhood. 2. Clinical manifestations and syndromes. J. Pediatr., 119, 242-250.
-
(1991)
J. Pediatr.
, vol.119
, pp. 242-250
-
-
Tulinius, M.H.1
Holme, E.2
Kristansson, B.3
Larsson, N.G.4
Oldfors, A.5
-
21
-
-
0019848404
-
Biochemical and genetic characterization of respiration-deficient mutants of Chinese hamster cells with a gal- phenotype
-
Maiti, I.B., De Souza, A.C. and Thirion, J.-P. (1981) Biochemical and genetic characterization of respiration-deficient mutants of Chinese hamster cells with a gal- phenotype. Somat. Cell Genet., 7, 567-582.
-
(1981)
Somat. Cell Genet.
, vol.7
, pp. 567-582
-
-
Maiti, I.B.1
De Souza, A.C.2
Thirion, J.-P.3
-
22
-
-
0030016359
-
Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S ribosomal RNA mutation
-
Guan, M.X. Fischel-Ghodsian, N. and Attardi, G. (1996) Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S ribosomal RNA mutation. Hum. Mol. Genet., 5, 963-971.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 963-971
-
-
Guan, M.X.1
Fischel-Ghodsian, N.2
Attardi, G.3
-
23
-
-
0026469235
-
Subacute necrotizing encephalopathy - Oxidative phosphorylation defects and the ATPase 6 point mutation
-
Shoffner, J.M., Fernhoff, P.M., Krawiecki, N.S., Caplan, D.B., Holt, P.J., Koontz, D.A., Takei, Y., Newman, N.J., Ortiz, R.G., Polak, M., Ballinger, S.W., Lott, M.C. and Wallace, D.C. (1992) Subacute necrotizing encephalopathy - oxidative phosphorylation defects and the ATPase 6 point mutation. Neurology, 42, 2168-2174.
-
(1992)
Neurology
, vol.42
, pp. 2168-2174
-
-
Shoffner, J.M.1
Fernhoff, P.M.2
Krawiecki, N.S.3
Caplan, D.B.4
Holt, P.J.5
Koontz, D.A.6
Takei, Y.7
Newman, N.J.8
Ortiz, R.G.9
Polak, M.10
Ballinger, S.W.11
Lott, M.C.12
Wallace, D.C.13
-
24
-
-
0029018848
-
Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr Virus-transformed lymphocytes in Pearson syndrome
-
Rötig, A., Bourgeron, T., Rustin, P. and Munnich, A. (1995) Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr Virus-transformed lymphocytes in Pearson syndrome. Muscle Nerve, S3, S159-S164.
-
(1995)
Muscle Nerve
, vol.S3
-
-
Rötig, A.1
Bourgeron, T.2
Rustin, P.3
Munnich, A.4
-
25
-
-
0023144897
-
The excised leader of human cytochrome-c oxidase subunit I messenger RNA which contains the origin of mitochondrial DNA light-strand synthesis accumulates in mitochondria and is polyadenylated
-
Gaines, G., Rossi, C and Attardi, G. (1987) The excised leader of human cytochrome-c oxidase subunit I messenger RNA which contains the origin of mitochondrial DNA light-strand synthesis accumulates in mitochondria and is polyadenylated. Mol. Cell. Biol., 7, 925-931.
-
(1987)
Mol. Cell. Biol.
, vol.7
, pp. 925-931
-
-
Gaines, G.1
Rossi, C.2
Attardi, G.3
-
26
-
-
0028102480
-
Bilateral sensorineural hearing loss in members of a maternal lineage with a mitochondrial point mutation
-
Vernham, G.A., Reid, F.M., Rundle, P.A. and Jacobs, H.T. (1994) Bilateral sensorineural hearing loss in members of a maternal lineage with a mitochondrial point mutation. Clin. Otolaryngol., 19, 314-319.
-
(1994)
Clin. Otolaryngol.
, vol.19
, pp. 314-319
-
-
Vernham, G.A.1
Reid, F.M.2
Rundle, P.A.3
Jacobs, H.T.4
-
27
-
-
0027992780
-
The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion
-
Spelbrink, J.N., Van Oost, B.A. and Van den Bogert, C. (1994) The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion. Hum. Mol. Genet., 3, 1989-1997.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1989-1997
-
-
Spelbrink, J.N.1
Van Oost, B.A.2
Van Den Bogert, C.3
-
28
-
-
0026573082
-
Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the transfer RNA(leu)(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
-
King, M.P., Koga, Y., Davidson, M. and Schon, E.A. (1992) Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the transfer RNA(leu)(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like 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
-
29
-
-
0027282274
-
Abnormal RNA processing associated with a novel transfer RNA mutation in mitochondrial DNA - A potential disease mechanism
-
Bindoff, L.A., Howell, N., Poulton, J., McCullough, D.A., Morten, K.J., Lightowlers, R.N., Turnbull, D.M., Weber, K. (1993) Abnormal RNA processing associated with a novel transfer RNA mutation in mitochondrial DNA - a potential disease mechanism. J. Biol. Chem., 268, 19559-19564.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 19559-19564
-
-
Bindoff, L.A.1
Howell, N.2
Poulton, J.3
McCullough, D.A.4
Morten, K.J.5
Lightowlers, R.N.6
Turnbull, D.M.7
Weber, K.8
-
30
-
-
0029119782
-
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA(ser(UCN)) gene
-
Tiranti, V., Chariot, P., Carella, F., Toscano, A., Soliveri, P., Girlanda, P., Carrara, F., Fratta, G.M., Reid, F.M., Mariotti, C. and Zeviani, M. (1995) Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA(ser(UCN)) gene. Hum. Mol. Genet., 4, 1421-1427.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1421-1427
-
-
Tiranti, V.1
Chariot, P.2
Carella, F.3
Toscano, A.4
Soliveri, P.5
Girlanda, P.6
Carrara, F.7
Fratta, G.M.8
Reid, F.M.9
Mariotti, C.10
Zeviani, M.11
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