-
1
-
-
0033619147
-
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
-
Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, et al. (1999) Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 341: 1037-1044.
-
(1999)
N Engl J Med
, vol.341
, pp. 1037-1044
-
-
Andreu, A.L.1
Hanna, M.G.2
Reichmann, H.3
Bruno, C.4
Penn, A.S.5
-
2
-
-
0037337347
-
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency
-
Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, et al. (2003) The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet 40: 188-191.
-
(2003)
J Med Genet
, vol.40
, pp. 188-191
-
-
Chol, M.1
Lebon, S.2
Bénit, P.3
Chretien, D.4
de Lonlay, P.5
-
3
-
-
11844282722
-
Mutations of mitochondrial 12S rRNA in gastric carcinoma and their significance
-
Han CB, Ma JM, Xin Y, Mao XY, Zhao YJ, et al. (2005) Mutations of mitochondrial 12S rRNA in gastric carcinoma and their significance. World J Gastroenterol 11: 31-35.
-
(2005)
World J Gastroenterol
, vol.11
, pp. 31-35
-
-
Han, C.B.1
Ma, J.M.2
Xin, Y.3
Mao, X.Y.4
Zhao, Y.J.5
-
4
-
-
2342572275
-
A novel mitochondrial mutation, 1556CT, in a Japanese patient with streptomycin-induced tinnitus
-
Tanimoto H, Nishio H, Matsuo M, Nibu K, (2004) A novel mitochondrial mutation, 1556CT, in a Japanese patient with streptomycin-induced tinnitus. Acta Otolaryngol 124: 258-261.
-
(2004)
Acta Otolaryngol
, vol.124
, pp. 258-261
-
-
Tanimoto, H.1
Nishio, H.2
Matsuo, M.3
Nibu, K.4
-
5
-
-
18444366742
-
Mitochondrial DNA mutations in focal segmental glomerulosclerosis lesions
-
Yamagata K, Muro K, Usui J, Hagiwara M, Kai H, et al. (2002) Mitochondrial DNA mutations in focal segmental glomerulosclerosis lesions. J Am Soc Nephrol 13: 1816-1823.
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 1816-1823
-
-
Yamagata, K.1
Muro, K.2
Usui, J.3
Hagiwara, M.4
Kai, H.5
-
6
-
-
0035093977
-
Antiatherogenic mitochondrial genotype in patients with type 2 diabetes
-
Matsunaga H, Tanaka Y, Tanaka M, Gong JS, Zhang J, et al. (2001) Antiatherogenic mitochondrial genotype in patients with type 2 diabetes. Diabetes Care 24: 500-503.
-
(2001)
Diabetes Care
, vol.24
, pp. 500-503
-
-
Matsunaga, H.1
Tanaka, Y.2
Tanaka, M.3
Gong, J.S.4
Zhang, J.5
-
7
-
-
4444308325
-
Detection of Mitochondrial DNA Mutations by Temporal Temperature Gradient Gel Electrophoresis
-
Wong LJ, Chen TJ, Tan DJ, (2004) Detection of Mitochondrial DNA Mutations by Temporal Temperature Gradient Gel Electrophoresis. Electrophoresis 25: 2602-2610.
-
(2004)
Electrophoresis
, vol.25
, pp. 2602-2610
-
-
Wong, L.J.1
Chen, T.J.2
Tan, D.J.3
-
8
-
-
0029658242
-
A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy
-
Fu K, Hartlen R, Johns T, Genge A, Karpati G, et al. (1996) A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. Hum Mol Genet 5: 1835-1840.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1835-1840
-
-
Fu, K.1
Hartlen, R.2
Johns, T.3
Genge, A.4
Karpati, G.5
-
9
-
-
0141758436
-
Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene
-
Solano A, Roig M, Vives-Bauza C, Hernandez-Peña J, Garcia-Arumi E, et al. (2003) Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene. Ann Neurol 54: 527-530.
-
(2003)
Ann Neurol
, vol.54
, pp. 527-530
-
-
Solano, A.1
Roig, M.2
Vives-Bauza, C.3
Hernandez-Peña, J.4
Garcia-Arumi, E.5
-
10
-
-
18744412927
-
Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome C oxidase III gene
-
Horváth R, Scharfe C, Hoeltzenbein M, Do BH, Schröder C, et al. (2002) Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome C oxidase III gene. J Med Genet 39: 812-816.
-
(2002)
J Med Genet
, vol.39
, pp. 812-816
-
-
Horváth, R.1
Scharfe, C.2
Hoeltzenbein, M.3
Do, B.H.4
Schröder, C.5
-
11
-
-
0036481515
-
Histochemical and molecular genetic study of MELAS and MERF in Korean patients
-
Kim DS, Jung DS, Park KH, Kim IJ, Kim CM, et al. (2002) Histochemical and molecular genetic study of MELAS and MERF in Korean patients. J Korean Med Sci 17: 103-112.
-
(2002)
J Korean Med Sci
, vol.17
, pp. 103-112
-
-
Kim, D.S.1
Jung, D.S.2
Park, K.H.3
Kim, I.J.4
Kim, C.M.5
-
12
-
-
0036667980
-
Metabolic consequences of a novel missense mutation of the mtDNA CO I gene
-
Varlamov DA, Kudin AP, Vielhaber S, Schröder R, Sassen R, et al. (2002) Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. Hum Mol Genet 11: 1797-1805.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1797-1805
-
-
Varlamov, D.A.1
Kudin, A.P.2
Vielhaber, S.3
Schröder, R.4
Sassen, R.5
-
13
-
-
0942279746
-
Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation
-
Gropman A, Chen TJ, Perng CL, Krasnewich D, Chernoff E, et al. (2004) Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. Am J Med Genet A 124: 377-382.
-
(2004)
Am J Med Genet A
, vol.124
, pp. 377-382
-
-
Gropman, A.1
Chen, T.J.2
Perng, C.L.3
Krasnewich, D.4
Chernoff, E.5
-
14
-
-
0037322524
-
The epidemiology of Leber hereditary optic neuropathy in the North East of England
-
Man PY, Griffiths PG, Brown DT, Howell N, Turnbull DM, et al. (2003) The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet 72: 333-339.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 333-339
-
-
Man, P.Y.1
Griffiths, P.G.2
Brown, D.T.3
Howell, N.4
Turnbull, D.M.5
-
15
-
-
85047694201
-
Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency
-
Nishigaki Y, Martí R, Copeland WC, Hirano M, (2003) Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J Clin Invest 111: 1913-1921.
-
(2003)
J Clin Invest
, vol.111
, pp. 1913-1921
-
-
Nishigaki, Y.1
Martí, R.2
Copeland, W.C.3
Hirano, M.4
-
16
-
-
0034635388
-
Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a
-
Baracca A, Barogi S, Carelli V, Lenaz G, Solaini G, (2000) Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a. J Biol Chem 275: 4177-4182.
-
(2000)
J Biol Chem
, vol.275
, pp. 4177-4182
-
-
Baracca, A.1
Barogi, S.2
Carelli, V.3
Lenaz, G.4
Solaini, G.5
-
17
-
-
0042329580
-
Late onset of stroke-like episode associated with a 3256CT point mutation of mitochondrial DNA
-
Jeppesen TD, Schwartz M, Hansen K, Danielsen ER, Wibrand F, et al. (2003) Late onset of stroke-like episode associated with a 3256CT point mutation of mitochondrial DNA. J Neurol Sci 214: 17-20.
-
(2003)
J Neurol Sci
, vol.214
, pp. 17-20
-
-
Jeppesen, T.D.1
Schwartz, M.2
Hansen, K.3
Danielsen, E.R.4
Wibrand, F.5
-
18
-
-
67349183319
-
Studies of the human aortic intima by a direct quantitative assay of mutant alleles in the mitochondrial genome
-
Sazonova MA, Budnikov EY, Khasanova ZB, Sobenin IA, Postnov AY, et al. (2009) Studies of the human aortic intima by a direct quantitative assay of mutant alleles in the mitochondrial genome. Atherosclerosis 204: 184-190.
-
(2009)
Atherosclerosis
, vol.204
, pp. 184-190
-
-
Sazonova, M.A.1
Budnikov, E.Y.2
Khasanova, Z.B.3
Sobenin, I.A.4
Postnov, A.Y.5
-
19
-
-
84867356322
-
Mitochondrial Mutations are Associated with Atherosclerotic Lesions in the Human Aorta
-
Sobenin IA, Sazonova MA, Postnov AY, Bobryshev YV, Orekhov AN, (2012) Mitochondrial Mutations are Associated with Atherosclerotic Lesions in the Human Aorta. Clin Dev Immunol 2012: 832464.
-
(2012)
Clin Dev Immunol
, vol.2012
, pp. 832464
-
-
Sobenin, I.A.1
Sazonova, M.A.2
Postnov, A.Y.3
Bobryshev, Y.V.4
Orekhov, A.N.5
-
20
-
-
84866987893
-
Mutation C3256T of Mitochondrial Genome in White Blood Cells: Novel Genetic Marker of Atherosclerosis and Coronary Heart Disease
-
Sobenin IA, Sazonova MA, Ivanova MM, Zhelankin AV, Myasoedova VA, et al. (2012) Mutation C3256T of Mitochondrial Genome in White Blood Cells: Novel Genetic Marker of Atherosclerosis and Coronary Heart Disease. PLoS ONE 7: e46573.
-
(2012)
PLoS ONE
, vol.7
-
-
Sobenin, I.A.1
Sazonova, M.A.2
Ivanova, M.M.3
Zhelankin, A.V.4
Myasoedova, V.A.5
-
21
-
-
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, et al. (1993) Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu(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
-
22
-
-
0032555354
-
Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu) (UUR) associated with mitochondrial diseases
-
Rossmanith W, Karwan RM, (1998) Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu) (UUR) associated with mitochondrial diseases. FEBS Letters 433: 269-274.
-
(1998)
FEBS Letters
, vol.433
, pp. 269-274
-
-
Rossmanith, W.1
Karwan, R.M.2
-
23
-
-
6044249065
-
Mitochondrial tRNA 3′ end metabolism and human disease
-
Levinger L, Morl M, Florentz C, (2004) Mitochondrial tRNA 3′ end metabolism and human disease. Nucl Acids Res 32: 5430-5441.
-
(2004)
Nucl Acids Res
, vol.32
, pp. 5430-5441
-
-
Levinger, L.1
Morl, M.2
Florentz, C.3
-
24
-
-
0036837220
-
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA
-
Karadimas CL, Salviati L, Sacconi S, Chronopoulou P, Shanske S, et al. (2002) Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA. Neuromuscul Disord 12: 865-868.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 865-868
-
-
Karadimas, C.L.1
Salviati, L.2
Sacconi, S.3
Chronopoulou, P.4
Shanske, S.5
-
25
-
-
67349197091
-
Identification of novel mutations in five patients with mitochondrial encephalomyopathy
-
Valente L, Piga D, Lamantea E, Carrara F, Uziel G, et al. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy. Biochim Biophys Acta 1787: 491-501.
-
(2009)
Biochim Biophys Acta
, vol.1787
, pp. 491-501
-
-
Valente, L.1
Piga, D.2
Lamantea, E.3
Carrara, F.4
Uziel, G.5
-
26
-
-
1642463791
-
Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan
-
Sudo A, Honzawa S, Nonaka I, Goto Y, (2004) Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. J Hum Genet 49: 92-96.
-
(2004)
J Hum Genet
, vol.49
, pp. 92-96
-
-
Sudo, A.1
Honzawa, S.2
Nonaka, I.3
Goto, Y.4
-
27
-
-
40849083528
-
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases
-
Shanske S, Coku J, Lu J, Ganesh J, Krishna S, et al. (2008) The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases. Arch Neurol 65: 368-372.
-
(2008)
Arch Neurol
, vol.65
, pp. 368-372
-
-
Shanske, S.1
Coku, J.2
Lu, J.3
Ganesh, J.4
Krishna, S.5
-
28
-
-
67949085199
-
Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies
-
Lim BC, Park JD, Hwang H, Kim KJ, Hwang YS, et al. (2009) Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies. J Child Neurol 24: 828-832.
-
(2009)
J Child Neurol
, vol.24
, pp. 828-832
-
-
Lim, B.C.1
Park, J.D.2
Hwang, H.3
Kim, K.J.4
Hwang, Y.S.5
-
29
-
-
0036714966
-
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy
-
Funalot B, Reynier P, Vighetto A, Ranoux D, Bonnefont JP, et al. (2002) Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. Annals Neurol 52: 374-377.
-
(2002)
Annals Neurol
, vol.52
, pp. 374-377
-
-
Funalot, B.1
Reynier, P.2
Vighetto, A.3
Ranoux, D.4
Bonnefont, J.P.5
-
30
-
-
0141535366
-
Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease
-
Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, et al. (2003) Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. Annals Neurol 54: 473-478.
-
(2003)
Annals Neurol
, vol.54
, pp. 473-478
-
-
Kirby, D.M.1
Boneh, A.2
Chow, C.W.3
Ohtake, A.4
Ryan, M.T.5
-
31
-
-
0942290696
-
Clinical variability in maternally inherited Leber Hereditary Optic Neuropathy with the G14459A mutation
-
Tarnopolsky MA, Baker SK, Myint T, Maxner CE, Robitaille J, et al. (2004) Clinical variability in maternally inherited Leber Hereditary Optic Neuropathy with the G14459A mutation. Am J Med Genet 124A: 372-376.
-
(2004)
Am J Med Genet
, vol.124 A
, pp. 372-376
-
-
Tarnopolsky, M.A.1
Baker, S.K.2
Myint, T.3
Maxner, C.E.4
Robitaille, J.5
-
32
-
-
0032929367
-
A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria
-
Andreu AL, Bruno C, Dunne TC, Tanji K, Shanske S, et al. (1999) A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria. Annals Neurol 45: 127-130.
-
(1999)
Annals Neurol
, vol.45
, pp. 127-130
-
-
Andreu, A.L.1
Bruno, C.2
Dunne, T.C.3
Tanji, K.4
Shanske, S.5
-
33
-
-
0141484570
-
Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies
-
Filosto M, Mancuso M, Vives-Bauza C, Vila MR, Shanske S, et al. (2003) Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies. Annals Neurol 54: 524-526.
-
(2003)
Annals Neurol
, vol.54
, pp. 524-526
-
-
Filosto, M.1
Mancuso, M.2
Vives-Bauza, C.3
Vila, M.R.4
Shanske, S.5
-
34
-
-
48349097445
-
Pathogenic mitochondrial DNA mutations are common in the general population
-
Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF, (2008) Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet 83: 254-260.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 254-260
-
-
Elliott, H.R.1
Samuels, D.C.2
Eden, J.A.3
Relton, C.L.4
Chinnery, P.F.5
-
36
-
-
22544462198
-
Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations
-
Meierhofer D, Mayr JA, Ebner S, Sperl W, Kofler B, (2005) Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations. Mitochondrion 5: 282-296.
-
(2005)
Mitochondrion
, vol.5
, pp. 282-296
-
-
Meierhofer, D.1
Mayr, J.A.2
Ebner, S.3
Sperl, W.4
Kofler, B.5
-
37
-
-
38349174911
-
Leukocyte influx in atherosclerosis
-
Galkina E, Ley K, (2007) Leukocyte influx in atherosclerosis. Curr Drug Targets 8: 1239-1248.
-
(2007)
Curr Drug Targets
, vol.8
, pp. 1239-1248
-
-
Galkina, E.1
Ley, K.2
-
38
-
-
67650720510
-
Immune and inflammatory mechanisms of atherosclerosis
-
Galkina E, Ley K, (2009) Immune and inflammatory mechanisms of atherosclerosis. Annu Rev Immunol 27: 165-197.
-
(2009)
Annu Rev Immunol
, vol.27
, pp. 165-197
-
-
Galkina, E.1
Ley, K.2
-
39
-
-
0029096765
-
Atherosclerosis Prevention Study (KAPS). A population-based primary preventive trial of the effect of LDL lowering on atherosclerotic progression in carotid and femoral arteries
-
Salonen R, Nyyssönen K, Porkkala E, Rummukainen J, Belder R, et al. (1995) Atherosclerosis Prevention Study (KAPS). A population-based primary preventive trial of the effect of LDL lowering on atherosclerotic progression in carotid and femoral arteries. Circulation 92: 1758-1764.
-
(1995)
Circulation
, vol.92
, pp. 1758-1764
-
-
Salonen, R.1
Nyyssönen, K.2
Porkkala, E.3
Rummukainen, J.4
Belder, R.5
-
40
-
-
77749292072
-
Cross-sectional analysis of baseline data to identify the major determinants of carotid intima-media thickness in a European population: the IMPROVE study
-
Baldassarre D, Nyyssönen K, Rauramaa R, de Faire U, Hamsten A, et al. (2010) Cross-sectional analysis of baseline data to identify the major determinants of carotid intima-media thickness in a European population: the IMPROVE study. Eur Heart J 31: 614-622.
-
(2010)
Eur Heart J
, vol.31
, pp. 614-622
-
-
Baldassarre, D.1
Nyyssönen, K.2
Rauramaa, R.3
de Faire, U.4
Hamsten, A.5
-
41
-
-
0033824460
-
Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing
-
Alderborn A, Kristofferson A, Hammerling U, (2000) Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing. Genome Res 10: 1249-1258.
-
(2000)
Genome Res
, vol.10
, pp. 1249-1258
-
-
Alderborn, A.1
Kristofferson, A.2
Hammerling, U.3
-
42
-
-
0242439359
-
Comparison of GenFlex Tag array and pyrosequencing in SNP genotyping
-
Chen DC, Saarela J, Nuotio I, Jokiaho A, Peltonen L, et al. (2003) Comparison of GenFlex Tag array and pyrosequencing in SNP genotyping. J Mol Diagn 5: 243-249.
-
(2003)
J Mol Diagn
, vol.5
, pp. 243-249
-
-
Chen, D.C.1
Saarela, J.2
Nuotio, I.3
Jokiaho, A.4
Peltonen, L.5
-
43
-
-
0242322580
-
Rapid detection and estimation by pyrosequencing of 23S rRNA genes with a single nucleotide polymorphism conferring linezolid resistance in Enterococci
-
Sinclair A, Arnold C, Woodford N, (2003) Rapid detection and estimation by pyrosequencing of 23S rRNA genes with a single nucleotide polymorphism conferring linezolid resistance in Enterococci. Antimicrob Agents Chemother 47: 3620-3622.
-
(2003)
Antimicrob Agents Chemother
, vol.47
, pp. 3620-3622
-
-
Sinclair, A.1
Arnold, C.2
Woodford, N.3
|