-
1
-
-
0028945657
-
Leber's hereditary optic neuropathy, the clinical relevance of different mitochondrial DNA mutations
-
Riordan-Eva P, Harding AE. Leber's hereditary optic neuropathy, the clinical relevance of different mitochondrial DNA mutations. J Med Genet 1995;32:81-87
-
(1995)
J Med Genet
, vol.32
, pp. 81-87
-
-
Riordan-Eva, P.1
Harding, A.E.2
-
2
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-1430
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
-
3
-
-
0026746739
-
A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology
-
Mackey D, Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet 1992;51: 1218-1228.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1218-1228
-
-
Mackey, D.1
Howell, N.2
-
4
-
-
0027502505
-
Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation
-
Johns DR, Heher KL, Miller NR, Smith KM. Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. Arch Ophthalmol 1993;111:495-498
-
(1993)
Arch Ophthalmol
, vol.111
, pp. 495-498
-
-
Johns, D.R.1
Heher, K.L.2
Miller, N.R.3
Smith, K.M.4
-
5
-
-
0025944560
-
Leber's hereditary optic neuropathy, identification of the same mitochondrial ND1 mutation in six pedigrees
-
Howell N, Bindoff LA, McCullough DA, et al. Leber's hereditary optic neuropathy, identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 1991;49: 939-950
-
(1991)
Am J Hum Genet
, vol.49
, pp. 939-950
-
-
Howell, N.1
Bindoff, L.A.2
McCullough, D.A.3
-
6
-
-
0025910614
-
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
-
Huoponen K, Vilkki J, Aula P, et al. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 1991;48:1147-1153
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1147-1153
-
-
Huoponen, K.1
Vilkki, J.2
Aula, P.3
-
7
-
-
0029064615
-
Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation
-
Harding AE, Sweeney MG, Govan GG, Riordan-Eva P. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet 1995;57: 77-86
-
(1995)
Am J Hum Genet
, vol.57
, pp. 77-86
-
-
Harding, A.E.1
Sweeney, M.G.2
Govan, G.G.3
Riordan-Eva, P.4
-
8
-
-
0028949749
-
The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
-
Riordan-Eva P, Sanders MD, Govan GG, et al. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995;118:319-337
-
(1995)
Brain
, vol.118
, pp. 319-337
-
-
Riordan-Eva, P.1
Sanders, M.D.2
Govan, G.G.3
-
9
-
-
0000869712
-
Primary LHON mutations: Trying to separate truit from "chaf."
-
Howell N. Primary LHON mutations: trying to separate truit from "chaf." Clin Neurosci 1994;2:130-137
-
(1994)
Clin Neurosci
, vol.2
, pp. 130-137
-
-
Howell, N.1
-
10
-
-
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, et al. 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 1991;292: 289-292
-
(1991)
FEBS Lett
, vol.292
, pp. 289-292
-
-
Majander, A.1
Huoponen, K.2
Savontaus, M.-L.3
-
11
-
-
0025936841
-
Leber's hereditary optic neuropathy and complex I deficiency in muscle
-
Larsson N-G, Andersen O, Holme E, et al. Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol 1991;30:701-708
-
(1991)
Ann Neurol
, vol.30
, pp. 701-708
-
-
Larsson, N.-G.1
Andersen, O.2
Holme, E.3
-
12
-
-
0025913742
-
Leber's hereditary optic neuropathy: Genetic, biochemical and phosphorus magnetic resonance spectroscopy study in an Italian family
-
Cortelli P, Montagna P, Avoni P, et al. Leber's hereditary optic neuropathy: genetic, biochemical and phosphorus magnetic resonance spectroscopy study in an Italian family. Neurology 1991;41:1211-1215
-
(1991)
Neurology
, vol.41
, pp. 1211-1215
-
-
Cortelli, P.1
Montagna, P.2
Avoni, P.3
-
13
-
-
0028349620
-
Platelet mitochondrial function in Leber's hereditary optic neuropathy
-
Smith PR, Cooper JM, Govan GG, et al. Platelet mitochondrial function in Leber's hereditary optic neuropathy. J Neurol Sci 1994;122:80-83
-
(1994)
J Neurol Sci
, vol.122
, pp. 80-83
-
-
Smith, P.R.1
Cooper, J.M.2
Govan, G.G.3
-
14
-
-
0029118005
-
MtDNA mutations associated with Leber's hereditary optic neuropathy: Studies on cytoplasmic hybrid (cybrid) cells
-
Vergani L, Martinuzzi A, Carelli V, et al. MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells. Biochem Biophys Res Commun 1995;210:880-888
-
(1995)
Biochem Biophys Res Commun
, vol.210
, pp. 880-888
-
-
Vergani, L.1
Martinuzzi, A.2
Carelli, V.3
-
15
-
-
0028871268
-
The mitochondrial DNA mutation ND6*14,484C associated with Leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain
-
Oostra R-J, VanGalen MJM, Bolhuis PA, et al. The mitochondrial DNA mutation ND6*14,484C associated with Leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain. Biochem Biophys Res Commun 1995; 215:1001-1005
-
(1995)
Biochem Biophys Res Commun
, vol.215
, pp. 1001-1005
-
-
Oostra, R.-J.1
Vangalen, M.J.M.2
Bolhuis, P.A.3
-
16
-
-
0028858473
-
The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity
-
Cock HR, Cooper JM, Schapira AHV. The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity. Am J Hum Genet 1995; 57:1501-1502
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1501-1502
-
-
Cock, H.R.1
Cooper, J.M.2
Schapira, A.H.V.3
-
17
-
-
0029153644
-
31P magnetic resonance spectroscopy in non-affected carriers of 11778 mtDNA mutation
-
31P magnetic resonance spectroscopy in non-affected carriers of 11778 mtDNA mutation. Neurology 1995;45:1364-1369
-
(1995)
Neurology
, vol.45
, pp. 1364-1369
-
-
Barbiroli, B.1
Montagna, P.2
Cortelli, P.3
-
18
-
-
0030071369
-
Control of energy metabolism during muscle contraction
-
Radda GK. Control of energy metabolism during muscle contraction. Diabetes 1995;45(suppl 1):88-92
-
(1995)
Diabetes
, vol.45
, Issue.1 SUPPL.
, pp. 88-92
-
-
Radda, G.K.1
-
19
-
-
0025968255
-
In vivo muscle magnetic resonance spectroscopy in the clinical investigation or mitochondrial disease
-
Matthews PM, Allaire C, Shoubridge EA, et al. In vivo muscle magnetic resonance spectroscopy in the clinical investigation or mitochondrial disease. Neurology 1991;41:114-120
-
(1991)
Neurology
, vol.41
, pp. 114-120
-
-
Matthews, P.M.1
Allaire, C.2
Shoubridge, E.A.3
-
21
-
-
0026693837
-
Evidence against an X-linked locus closed to DXS7 determining visual loss susceptibility in British and Italian families with Leber's hereditary optic neuropathy
-
Sweeney M, Davis M, Lashwood A, et al. Evidence against an X-linked locus closed to DXS7 determining visual loss susceptibility in British and Italian families with Leber's hereditary optic neuropathy. Am J Hum Genet 1992;51:741-748
-
(1992)
Am J Hum Genet
, vol.51
, pp. 741-748
-
-
Sweeney, M.1
Davis, M.2
Lashwood, A.3
-
22
-
-
0016176101
-
Body fat assessed from total body density and its estimation from skinfold thickness; measurements in 481 man and women aged from 16 to 72 years
-
Durnin J, Womersley J. Body fat assessed from total body density and its estimation from skinfold thickness; measurements in 481 man and women aged from 16 to 72 years. Br J Nutr 1974;32:77-97
-
(1974)
Br J Nutr
, vol.32
, pp. 77-97
-
-
Durnin, J.1
Womersley, J.2
-
23
-
-
0021794963
-
Investigations of human mitochondrial myopathies by phosphorous magnetic resonance spectroscopy
-
Arnold DL, Taylor DJ, Radda GK. Investigations of human mitochondrial myopathies by phosphorous magnetic resonance spectroscopy. Ann Neurol 1985;18:189-196
-
(1985)
Ann Neurol
, vol.18
, pp. 189-196
-
-
Arnold, D.L.1
Taylor, D.J.2
Radda, G.K.3
-
25
-
-
0027355232
-
Control of phosphocreatine resynthesis during recovery from exercise in human skeletal muscle
-
Kemp GJ, Taylor DJ, Radda GK. Control of phosphocreatine resynthesis during recovery from exercise in human skeletal muscle. NMR Biomed 1993;6:66-72
-
(1993)
NMR Biomed
, vol.6
, pp. 66-72
-
-
Kemp, G.J.1
Taylor, D.J.2
Radda, G.K.3
-
26
-
-
77049249588
-
Respiratory enzymes in oxidative phosphorylation. III. The steady state
-
Chance B, Williams GR. Respiratory enzymes in oxidative phosphorylation. III. The steady state. J Biol Chem 1955;217: 409-427
-
(1955)
J Biol Chem
, vol.217
, pp. 409-427
-
-
Chance, B.1
Williams, G.R.2
-
27
-
-
0028100561
-
A heteroplasmic LHON family: Tissue distribution and transmission of the 11778 mutation
-
Howell N, Xu M, Halvorson S, et al. A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation. Am J Hum Genet 1994;55:203-206
-
(1994)
Am J Hum Genet
, vol.55
, pp. 203-206
-
-
Howell, N.1
Xu, M.2
Halvorson, S.3
-
28
-
-
0026681490
-
MELAS: Clinical features, biochemistry, and molecular genetics
-
Ciafaloni E, Ricci E, Shanske S, et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 1992;31: 391-398
-
(1992)
Ann Neurol
, vol.31
, pp. 391-398
-
-
Ciafaloni, E.1
Ricci, E.2
Shanske, S.3
-
29
-
-
0026620865
-
(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome
-
(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet 1992;51:1201-1212
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1201-1212
-
-
Larsson, N.-G.1
Tulinius, M.H.2
Holme, E.3
-
30
-
-
0027288377
-
(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF): Relationship of clinical phenotype to proportion of mutant mitochondrial DNA
-
(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF): relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain 1993;116:617-632
-
(1993)
Brain
, vol.116
, pp. 617-632
-
-
Hammans, S.R.1
Sweeney, M.G.2
Brockington, M.3
-
32
-
-
0021735013
-
Metabolic recovery after exercise and the assessment of mitochondrial function in vivo in human skeletal muscle by means of P-31 NMR
-
Arnold DL, Matthews PM, Radda GK. Metabolic recovery after exercise and the assessment of mitochondrial function in vivo in human skeletal muscle by means of P-31 NMR. Magn Reson Med 1984;1:307-315
-
(1984)
Magn Reson Med
, vol.1
, pp. 307-315
-
-
Arnold, D.L.1
Matthews, P.M.2
Radda, G.K.3
-
33
-
-
0021019061
-
Bioenergetics of intact human muscle. A 31P nuclear magnetic resonance study
-
Taylor DJ, Bore PJ, Gadian DG, Radda GK. Bioenergetics of intact human muscle. A 31P nuclear magnetic resonance study. Mol Biol Med 1983;1:77-94
-
(1983)
Mol Biol Med
, vol.1
, pp. 77-94
-
-
Taylor, D.J.1
Bore, P.J.2
Gadian, D.G.3
Radda, G.K.4
-
34
-
-
0027654218
-
31P MRS of abnormal mitochondrial oxidative in skeletal muscle during recovery from exercise
-
31P MRS of abnormal mitochondrial oxidative in skeletal muscle during recovery from exercise. NMR Biomed 1993; 6:302-310
-
(1993)
NMR Biomed
, vol.6
, pp. 302-310
-
-
Kemp, G.J.1
Thompson, C.H.2
Taylor, D.J.3
-
35
-
-
0027944287
-
Bioenergetics of skeletal muscle in mitochondrial myopathy
-
Taylor DJ, Kemp GJ, Radda GK. Bioenergetics of skeletal muscle in mitochondrial myopathy. J Neurol Sci 1994;127:198-206
-
(1994)
J Neurol Sci
, vol.127
, pp. 198-206
-
-
Taylor, D.J.1
Kemp, G.J.2
Radda, G.K.3
-
36
-
-
0027269568
-
Skeletal muscle bioenergetics in myotonic dystrophy
-
Taylor DJ, Kemp GJ, Woods CG, et al. Skeletal muscle bioenergetics in myotonic dystrophy. J Neurol Sci 1993;116:193-200
-
(1993)
J Neurol Sci
, vol.116
, pp. 193-200
-
-
Taylor, D.J.1
Kemp, G.J.2
Woods, C.G.3
-
37
-
-
0026495869
-
Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation
-
Johns DR, Smith KH, Miller NR. Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation. Arch Ophthalmol 1992;110:1577-1581
-
(1992)
Arch Ophthalmol
, vol.110
, pp. 1577-1581
-
-
Johns, D.R.1
Smith, K.H.2
Miller, N.R.3
|