-
1
-
-
31544479265
-
Update on Chronic Progressive External Ophthalmoplegia
-
Bau V, Zierz S. Update on Chronic Progressive External Ophthalmoplegia. Strabismus 2005; 13:133-142.
-
(2005)
Strabismus
, vol.13
, pp. 133-142
-
-
Bau, V.1
Zierz, S.2
-
2
-
-
0009594810
-
Chronic progressive ophthalmoplegia of myopathic
-
Sandifer PH. Chronic progressive ophthalmoplegia of myopathic. J Neurol Neurosurg Psychiatry 1946; 9:81-83.
-
(1946)
J Neurol Neurosurg Psychiatry
, vol.9
, pp. 81-83
-
-
Sandifer, P.H.1
-
3
-
-
21444446341
-
Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis
-
Schaefer AM, Blakely EL, Griffiths PG, Turnbull DM, Taylor RW. Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis. Muscle Nerve 2005; 32:104-107.
-
(2005)
Muscle Nerve
, vol.32
, pp. 104-107
-
-
Schaefer, A.M.1
Blakely, E.L.2
Griffiths, P.G.3
Turnbull, D.M.4
Taylor, R.W.5
-
4
-
-
0032519307
-
Automating the identification of DNA variations using qualitybased fluorescence re-sequencing:Analysis of the human mitochondrial genome
-
Rieder MJ, Taylor SL, Tobe VO, Nickerson DA. Automating the identification of DNA variations using qualitybased fluorescence re-sequencing:analysis of the human mitochondrial genome. Nucleic Acids Res 1998; 26:967-973.
-
(1998)
Nucleic Acids Res
, vol.26
, pp. 967-973
-
-
Rieder, M.J.1
Taylor, S.L.2
Tobe, V.O.3
Nickerson, D.A.4
-
5
-
-
0032868141
-
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
-
Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 1999; 23:147.
-
(1999)
Nat Genet
, vol.23
, pp. 147
-
-
Andrews, R.M.1
Kubacka, I.2
Chinnery, P.F.3
Lightowlers, R.N.4
Turnbull, D.M.5
Howell, N.6
-
6
-
-
0028415823
-
Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNALeu(UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies
-
Jean-Francois MJ, Lertrit P, Berkovic SF, Crimmins D, Morris J, Marzuki S, Byrne E. Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNALeu(UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies. Aust N Z J Med 1994; 24:188-193.
-
(1994)
Aust N Z J Med
, vol.24
, pp. 188-193
-
-
Jean-Francois, M.J.1
Lertrit, P.2
Berkovic, S.F.3
Crimmins, D.4
Morris, J.5
Marzuki, S.6
Byrne, E.7
-
7
-
-
0027335882
-
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
-
Moraes CT, Ciacci F, Silvestri G, Shanske S, Sciacco M, Hirano M, Schon EA, Bonilla E, DiMauro S. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromuscul Disord 1993; 3:43-50.
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 43-50
-
-
Moraes, C.T.1
Ciacci, F.2
Silvestri, G.3
Shanske, S.4
Sciacco, M.5
Hirano, M.6
Schon, E.A.7
Bonilla, E.8
Dimauro, S.9
-
8
-
-
0026664015
-
A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy
-
Goto Y, Tojo M, Tohyama J, Horai S, Nonaka I. A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy. Ann Neurol 1992; 31:672-675.
-
(1992)
Ann Neurol
, vol.31
, pp. 672-675
-
-
Goto, Y.1
Tojo, M.2
Tohyama, J.3
Horai, S.4
Nonaka, I.5
-
9
-
-
18844430007
-
Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease
-
Kirino Y, Goto Y, Campos Y, Arenas J, Suzuki T. Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease. Proc Natl Acad Sci USA 2005; 102:7127-7132.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 7127-7132
-
-
Kirino, Y.1
Goto, Y.2
Campos, Y.3
Arenas, J.4
Suzuki, T.5
-
10
-
-
0030664248
-
A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia
-
Chinnery PF, Johnson MA, Taylor RW, Durward WF, Turnbull DM. A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia. Neurology 1997; 49:1166-1168.
-
(1997)
Neurology
, vol.49
, pp. 1166-1168
-
-
Chinnery, P.F.1
Johnson, M.A.2
Taylor, R.W.3
Durward, W.F.4
Turnbull, D.M.5
-
11
-
-
0032481279
-
A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: Studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis
-
Taylor RW, Chinnery PF, Bates MJ, Jackson MJ, Johnson MA, Andrews RM, Turnbull DM. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. Biochem Biophys Res Commun 1998; 243:47-51.
-
(1998)
Biochem Biophys Res Commun
, vol.243
, pp. 47-51
-
-
Taylor, R.W.1
Chinnery, P.F.2
Bates, M.J.3
Jackson, M.J.4
Johnson, M.A.5
Andrews, R.M.6
Turnbull, D.M.7
-
12
-
-
0031714646
-
A novel mitochondrial tRNA (Ile) point mutation in chronic progressive external ophthalmoplegia
-
Franceschina L, Salani S, Bordoni A, Sciacco M, Napoli L, Comi GP, Prelle A, Fortunato F, Hadjigeorgiou GM, Farina E, Bresolin N, D'Angelo MG, Scarlato G. A novel mitochondrial tRNA (Ile) point mutation in chronic progressive external ophthalmoplegia. J Neurol 1998; 245:755-758.
-
(1998)
J Neurol
, vol.245
, pp. 755-758
-
-
Franceschina, L.1
Salani, S.2
Bordoni, A.3
Sciacco, M.4
Napoli, L.5
Comi, G.P.6
Prelle, A.7
Fortunato, F.8
Hadjigeorgiou, G.M.9
Farina, E.10
Bresolin, N.11
D'angelo, M.G.12
Scarlato, G.13
-
13
-
-
0034980534
-
A new mutation in the mitochondrial tRNA (Ala) gene in a patient with ophthalmoplegia and dysphagia
-
Spagnolo M, Tomelleri G, Vattemi G, Filosto M, Rizzuto N, Tonin P. A new mutation in the mitochondrial tRNA (Ala) gene in a patient with ophthalmoplegia and dysphagia. Neuromuscul Disord 2001; 11:481-484.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 481-484
-
-
Spagnolo, M.1
Tomelleri, G.2
Vattemi, G.3
Filosto, M.4
Rizzuto, N.5
Tonin, P.6
-
14
-
-
0027759243
-
Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA
-
Münscher C, Müller-Höcker J, Kadenbach B. Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA. Biol Chem Hoppe Seyler 1993; 374:1099-1104.
-
(1993)
Biol Chem Hoppe Seyler
, vol.374
, pp. 1099-1104
-
-
Münscher, C.1
Müller-Höcker, J.2
Kadenbach, B.3
-
15
-
-
0027960070
-
Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNAAsn gene
-
Seibel P, Lauber J, Klopstock T, Marsac C, Kadenbach B, Reichmann H. Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNAAsn gene. Biochem Biophys Res Commun 1994; 204:482-489.
-
(1994)
Biochem Biophys Res Commun
, vol.204
, pp. 482-489
-
-
Seibel, P.1
Lauber, J.2
Klopstock, T.3
Marsac, C.4
Kadenbach, B.5
Reichmann, H.6
-
16
-
-
0035019225
-
Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders
-
Sternberg D, Chatzoglou E, Laforêt P, Fayet G, Jardel C, Blondy P, Fardeau M, Amselem S, Eymard B, Lombès A. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. Brain 2001; 124:984-994.
-
(2001)
Brain
, vol.124
, pp. 984-994
-
-
Sternberg, D.1
Chatzoglou, E.2
Laforêt, P.3
Fayet, G.4
Jardel, C.5
Blondy, P.6
Fardeau, M.7
Amselem, S.8
Eymard, B.9
Lombès, A.10
-
17
-
-
0030679561
-
A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA (Asn)
-
Hao H, Moraes CT. A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA (Asn). Mol Cell Biol 1997; 17:6831-6837.
-
(1997)
Mol Cell Biol
, vol.17
, pp. 6831-6837
-
-
Hao, H.1
Moraes, C.T.2
-
18
-
-
0027145131
-
Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu (UUR) gene an etiologic hot spot?
-
Moraes CT, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N, Lovelace RE, Rowland LP, Schon EA, DiMauro S. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu (UUR) gene an etiologic hot spot? J Clin Invest 1993; 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
-
19
-
-
0032924716
-
A novel mutation (8342G→A) in the mitochondrial tRNA (Lys) gene associated with progressive external ophthalmoplegia and myoclonus
-
Tiranti V, Carrara F, Confalonieri P, Mora M, Maffei RM, Lamantea E, Zeviani M. A novel mutation (8342G→A) in the mitochondrial tRNA (Lys) gene associated with progressive external ophthalmoplegia and myoclonus. Neuromuscul Disord 1999; 9:66-71.
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 66-71
-
-
Tiranti, V.1
Carrara, F.2
Confalonieri, P.3
Mora, M.4
Maffei, R.M.5
Lamantea, E.6
Zeviani, M.7
-
20
-
-
0344896708
-
Classical mitochondrial phenotypes without mtDNA mutations: The possible role of nuclear genes
-
Pulkes T, Liolitsa D, Nelson IP, Hanna MG. Classical mitochondrial phenotypes without mtDNA mutations: The possible role of nuclear genes. Neurology 2003; 61:1144-1147.
-
(2003)
Neurology
, vol.61
, pp. 1144-1147
-
-
Pulkes, T.1
Liolitsa, D.2
Nelson, I.P.3
Hanna, M.G.4
-
21
-
-
0028218473
-
Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy
-
Houshmand M, Larsson NG, Holme E, Oldfors A, Tulinius MH, Andersen O. Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy. Biochim Biophys Acta 1994; 1226:49-55.
-
(1994)
Biochim Biophys Acta
, vol.1226
, pp. 49-55
-
-
Houshmand, M.1
Larsson, N.G.2
Holme, E.3
Oldfors, A.4
Tulinius, M.H.5
Andersen, O.6
-
22
-
-
0025854830
-
Mutations in mitochondrial tRNA genes: A frequent cause of neuromuscular diseases
-
Lauber J, Marsac C, Kadenbach B, Seibel P. Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases. Nucleic Acids Res 1991; 19:1393-1397.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 1393-1397
-
-
Lauber, J.1
Marsac, C.2
Kadenbach, B.3
Seibel, P.4
-
23
-
-
0026409821
-
Normal variants of human mitochondrial DNA and translation products: The building of a reference data base
-
Marzuki S, Noer AS, Lertrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E. Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. Hum Genet 1991; 88:139-145.
-
(1991)
Hum Genet
, vol.88
, pp. 139-145
-
-
Marzuki, S.1
Noer, A.S.2
Lertrit, P.3
Thyagarajan, D.4
Kapsa, R.5
Utthanaphol, P.6
Byrne, E.7
-
24
-
-
0028070162
-
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA (glycine) gene
-
Merante F, Tein I, Benson L, Robinson BH. Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA (glycine) gene. Am J Hum Genet 1994; 55:437-446.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 437-446
-
-
Merante, F.1
Tein, I.2
Benson, L.3
Robinson, B.H.4
-
25
-
-
0025950638
-
A tRNA (Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome
-
Noer AS, Sudoyo H, Lertrit P, Thyagarajan D, Utthanaphol P, Kapsa R, Byrne E, Marzuki S. A tRNA (Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome. Am J Hum Genet 1991; 49:715-722.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 715-722
-
-
Noer, A.S.1
Sudoyo, H.2
Lertrit, P.3
Thyagarajan, D.4
Utthanaphol, P.5
Kapsa, R.6
Byrne, E.7
Marzuki, S.8
-
26
-
-
0034676760
-
Increased risk of stroke in patients with the A12308G polymorphism in mitochondria
-
Pulkes T, Sweeney MG, Hanna MG. Increased risk of stroke in patients with the A12308G polymorphism in mitochondria. Lancet 2000; 356:2068-2069.
-
(2000)
Lancet
, vol.356
, pp. 2068-2069
-
-
Pulkes, T.1
Sweeney, M.G.2
Hanna, M.G.3
-
27
-
-
0026603422
-
Mutations in mitochondrial tRNA genes: Non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia
-
van den Ouweland JM, Bruining GJ, Lindhout D, Wit JM, Veldhuyzen BF, Maassen JA. Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. Nucleic Acids Res 1992; 20:679-682.
-
(1992)
Nucleic Acids Res
, vol.20
, pp. 679-682
-
-
Van den Ouweland, J.M.1
Bruining, G.J.2
Lindhout, D.3
Wit, J.M.4
Veldhuyzen, B.F.5
Maassen, J.A.6
-
28
-
-
0028024359
-
Point mutations in mitochondrial tRNA genes: Sequence analysis of chronic progressive external ophthalmoplegia (CPEO)
-
Hattori Y, Goto Y, Sakuta R, Nonaka I, Mizuno Y, Horai S. Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO). J Neurol Sci 1994; 125:50-55.
-
(1994)
J Neurol Sci
, vol.125
, pp. 50-55
-
-
Hattori, Y.1
Goto, Y.2
Sakuta, R.3
Nonaka, I.4
Mizuno, Y.5
Horai, S.6
-
29
-
-
0028030728
-
A mitochondrial tRNA(Leu)(UUR) mutation at 3256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
-
Sato W, Hayasaka K, Shoji Y, Takahashi T, Takada G, Saito M, Fukawa O, Wachi E. A mitochondrial tRNA(Leu)(UUR) mutation at 3256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem Mol Biol Int 1994; 33:1055-1061.
-
(1994)
Biochem Mol Biol Int
, vol.33
, pp. 1055-1061
-
-
Sato, W.1
Hayasaka, K.2
Shoji, Y.3
Takahashi, T.4
Takada, G.5
Saito, M.6
Fukawa, O.7
Wachi, E.8
-
30
-
-
6044249065
-
Mitochondrial tRNA 3′ end metabolism and human disease
-
Levinger L, Mörl M, Florentz C. Mitochondrial tRNA 3′ end metabolism and human disease. Nucleic Acids Res 2004; 32:5430-5441.
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 5430-5441
-
-
Levinger, L.1
Mörl, M.2
Florentz, C.3
-
31
-
-
0037417764
-
The pathogenic A3243G mutation in human mitochondrial tRNALeu (UUR) decreases the efficiency of aminoacylation
-
Park H, Davidson E, King MP. The pathogenic A3243G mutation in human mitochondrial tRNALeu (UUR) decreases the efficiency of aminoacylation. Biochemistry 2003; 42:958-964.
-
(2003)
Biochemistry
, vol.42
, pp. 958-964
-
-
Park, H.1
Davidson, E.2
King, M.P.3
|