-
1
-
-
0037221950
-
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy
-
Antonicka H, Mattman A, Carlson CG, et al. 2003. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am J Hum Genet 72:101-114.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 101-114
-
-
Antonicka, H.1
Mattman, A.2
Carlson, C.G.3
-
2
-
-
2642539211
-
Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: A single-step approach
-
Bai RK, Wong LJ. 2004. Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach. Clin Chem 50:996-1001.
-
(2004)
Clin Chem
, vol.50
, pp. 996-1001
-
-
Bai, R.K.1
Wong, L.J.2
-
3
-
-
0029019959
-
Mitochondrial DNA mutations in normal and tumor tissues from breast cancer patients
-
Bianchi MS, Bianchi NO, Bailliet G. 1995. Mitochondrial DNA mutations in normal and tumor tissues from breast cancer patients. Cytogenet Cell Genet 71:99-103.
-
(1995)
Cytogenet Cell Genet
, vol.71
, pp. 99-103
-
-
Bianchi, M.S.1
Bianchi, N.O.2
Bailliet, G.3
-
4
-
-
34249811206
-
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
-
Bourdon A, Minai L, Serre V, et al. 2007. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 39:776-780.
-
(2007)
Nat Genet
, vol.39
, pp. 776-780
-
-
Bourdon, A.1
Minai, L.2
Serre, V.3
-
5
-
-
46949102453
-
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle
-
Brautbar A, Wang J, Abdenur JE, et al. 2008. The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. Mol Genet Metab 94:485-490.
-
(2008)
Mol Genet Metab
, vol.94
, pp. 485-490
-
-
Brautbar, A.1
Wang, J.2
Abdenur, J.E.3
-
6
-
-
2442691791
-
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)
-
DOI 10.1086/421530
-
Bykhovskaya Y, Casas K, Mengesha E, et al. 2004. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am J Hum Genet 74:1303-1308. (Pubitemid 38669331)
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.6
, pp. 1303-1308
-
-
Bykhovskaya, Y.1
Casas, K.2
Mengesha, E.3
Inbal, A.4
Fischel-Ghodsian, N.5
-
7
-
-
34249008188
-
Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA)
-
Bykhovskaya Y, Mengesha E, Fischel-Ghodsian N. 2007. Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA). Mol Genet Metab 91:148-156.
-
(2007)
Mol Genet Metab
, vol.91
, pp. 148-156
-
-
Bykhovskaya, Y.1
Mengesha, E.2
Fischel-Ghodsian, N.3
-
8
-
-
33646362551
-
Systematic identification of human mitochondrial disease genes through integrative genomics
-
Calvo S, Jain M, Xie X, et al. 2006. Systematic identification of human mitochondrial disease genes through integrative genomics. Nat Genet 38:576-582.
-
(2006)
Nat Genet
, vol.38
, pp. 576-582
-
-
Calvo, S.1
Jain, M.2
Xie, X.3
-
9
-
-
33947165311
-
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
-
Carrozzo R, Dionisi-Vici C, Steuerwald U, et al. 2007. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 130:862-874.
-
(2007)
Brain
, vol.130
, pp. 862-874
-
-
Carrozzo, R.1
Dionisi-Vici, C.2
Steuerwald, U.3
-
10
-
-
68749097261
-
Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes
-
Chinault AC, Shaw CA, Brundage EK, et al. 2009. Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes. Genet Med 11:518-526.
-
(2009)
Genet Med
, vol.11
, pp. 518-526
-
-
Chinault, A.C.1
Shaw, C.A.2
Brundage, E.K.3
-
11
-
-
0027017232
-
Mitochondrial DNA deletions in human brain: Regional variability and increase with advanced age
-
Corral-Debrinski M, Horton T, Lott MT, et al. 1992. Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age. Nat Genet 2:324-329.
-
(1992)
Nat Genet
, vol.2
, pp. 324-329
-
-
Corral-Debrinski, M.1
Horton, T.2
Lott, M.T.3
-
12
-
-
17944381521
-
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure
-
de Lonlay P, Valnot I, Barrientos A, et al. 2001. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 29:57-60.
-
(2001)
Nat Genet
, vol.29
, pp. 57-60
-
-
De Lonlay, P.1
Valnot, I.2
Barrientos, A.3
-
13
-
-
58049219750
-
Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells
-
Dieteren CE, Willems PH, Vogel RO, et al. 2008. Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells. J Biol Chem 283:34753-34761.
-
(2008)
J Biol Chem
, vol.283
, pp. 34753-34761
-
-
Dieteren, C.E.1
Willems, P.H.2
Vogel, R.O.3
-
14
-
-
10644231741
-
The many faces of mitochondrial diseases
-
DiMauro S. 2004. The many faces of mitochondrial diseases. Mitochondrion 4:799-807.
-
(2004)
Mitochondrion
, vol.4
, pp. 799-807
-
-
DiMauro, S.1
-
15
-
-
77954371509
-
Quantitative evaluation of the mitochondrial DNA depletion syndrome
-
Dimmock D, Tang LY, Schmitt ES, et al. 2010. Quantitative evaluation of the mitochondrial DNA depletion syndrome. Clin Chem 56: 1119-1127.
-
(2010)
Clin Chem
, vol.56
, pp. 1119-1127
-
-
Dimmock, D.1
Tang, L.Y.2
Schmitt, E.S.3
-
16
-
-
38949188752
-
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
-
Dimmock DP, Zhang Q, Dionisi-Vici C, et al. 2008. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat 29:330-331.
-
(2008)
Hum Mutat
, vol.29
, pp. 330-331
-
-
Dimmock, D.P.1
Zhang, Q.2
Dionisi-Vici, C.3
-
17
-
-
35348983348
-
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia
-
DOI 10.1086/521227
-
Edvardson S, Shaag A, Kolesnikova O, et al. 2007. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet 81:857-862. (Pubitemid 47596554)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.4
, pp. 857-862
-
-
Edvardson, S.1
Shaag, A.2
Kolesnikova, O.3
Gomori, J.M.4
Tarassov, I.5
Einbinder, T.6
Saada, A.7
Elpeleg, O.8
-
18
-
-
76349116705
-
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations
-
El-Hattab AW, Li FY, Schmitt E, et al. 2010. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. Mol Genet Metab 99:300-308.
-
(2010)
Mol Genet Metab
, vol.99
, pp. 300-308
-
-
El-Hattab, A.W.1
Li, F.Y.2
Schmitt, E.3
-
19
-
-
48349097445
-
Pathogenic mitochondrial DNA mutations are common in the general population
-
Elliott HR, Samuels DC, Eden JA, et al. 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
-
20
-
-
18944390365
-
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
-
Elpeleg O, Miller C, Hershkovitz E, et al. 2005. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 76:1081-1086.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 1081-1086
-
-
Elpeleg, O.1
Miller, C.2
Hershkovitz, E.3
-
21
-
-
33746503579
-
Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
-
Enns GM, Bai RK, Beck AE, et al. 2006. Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load. Mol Genet Metab 88:364-371.
-
(2006)
Mol Genet Metab
, vol.88
, pp. 364-371
-
-
Enns, G.M.1
Bai, R.K.2
Beck, A.E.3
-
22
-
-
34147144142
-
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
-
Fernandez-Vizarra E, Berardinelli A, Valente L, et al. 2007. Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). J Med Genet 44:173-180.
-
(2007)
J Med Genet
, vol.44
, pp. 173-180
-
-
Fernandez-Vizarra, E.1
Berardinelli, A.2
Valente, L.3
-
23
-
-
33644526253
-
New mutations in TK2 gene associated with mitochondrial DNA depletion
-
Galbiati S, Bordoni A, Papadimitriou D, et al. 2006. New mutations in TK2 gene associated with mitochondrial DNA depletion. Pediatr Neurol 34:177-185.
-
(2006)
Pediatr Neurol
, vol.34
, pp. 177-185
-
-
Galbiati, S.1
Bordoni, A.2
Papadimitriou, D.3
-
24
-
-
75949130828
-
PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1
-
Geisler S, Holmstrom KM, Skujat D, et al. 2010. PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1. Nat Cell Biol 12:119-131.
-
(2010)
Nat Cell Biol
, vol.12
, pp. 119-131
-
-
Geisler, S.1
Holmstrom, K.M.2
Skujat, D.3
-
25
-
-
34248171499
-
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
-
Gempel K, Topaloglu H, Talim B, et al. 2007. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring- flavoprotein dehydrogenase (ETFDH) gene. Brain 130:2037-2044.
-
(2007)
Brain
, vol.130
, pp. 2037-2044
-
-
Gempel, K.1
Topaloglu, H.2
Talim, B.3
-
26
-
-
0942279746
-
Variable Clinical Manifestation of Homoplasmic G14459A Mitochondrial DNA Mutation
-
Gropman A, Chen TJ, Perng CL, et al. 2004. Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. Am J Med Genet A 124A:377-382. (Pubitemid 38141379)
-
(2004)
American Journal of Medical Genetics
, vol.124 A
, Issue.4
, pp. 377-382
-
-
Gropman, A.1
Chen, T.-J.2
Perng, C.-L.3
Krasnewich, D.4
Chernoff, E.5
Tifft, C.6
Wong, L.-J.C.7
-
27
-
-
36849091403
-
Mitochondrial disease: A practical approach for primary care physicians
-
Haas RH, Parikh S, Falk MJ, et al. 2007.Mitochondrial disease: a practical approach for primary care physicians. Pediatrics 120:1326-1333.
-
(2007)
Pediatrics
, vol.120
, pp. 1326-1333
-
-
Haas, R.H.1
Parikh, S.2
Falk, M.J.3
-
28
-
-
41949098832
-
The in-depth evaluation of suspected mitochondrial disease
-
Haas RH, Parikh S, Falk MJ, et al. 2008. The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab 94:16-37.
-
(2008)
Mol Genet Metab
, vol.94
, pp. 16-37
-
-
Haas, R.H.1
Parikh, S.2
Falk, M.J.3
-
29
-
-
35649024143
-
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
-
Hakonen AH, Isohanni P, Paetau A, et al. 2007. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 130:3032-3040.
-
(2007)
Brain
, vol.130
, pp. 3032-3040
-
-
Hakonen, A.H.1
Isohanni, P.2
Paetau, A.3
-
31
-
-
0030030467
-
Novel mitochondrial DNA deletion found in a renal cell carcinoma
-
DOI 10.1002/(SICI)1098-2264(199602)15:2<95::AID-GCC3>3.0.CO;2-Z
-
Horton TM, Petros JA, Heddi A, et al. 1996. Novel mitochondrial DNA deletion found in a renal cell carcinoma. Genes Chromosomes Cancer 15:95-101. (Pubitemid 26048409)
-
(1996)
Genes Chromosomes and Cancer
, vol.15
, Issue.2
, pp. 95-101
-
-
Horton, T.M.1
Petros, J.A.2
Heddi, A.3
Shoffner, J.4
Kaufman, A.E.5
Graham Jr., S.D.6
Gramlich, T.7
Wallace, D.C.8
-
32
-
-
33745713884
-
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene
-
Horvath R, Hudson G, Ferrari G, et al. 2006. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 129:1674-1684.
-
(2006)
Brain
, vol.129
, pp. 1674-1684
-
-
Horvath, R.1
Hudson, G.2
Ferrari, G.3
-
33
-
-
67349139654
-
TMEM70 protein - A novel ancillary factor of mammalian ATP synthase
-
Houstek J, Kmoch S, Zeman J. 2009. TMEM70 protein - a novel ancillary factor of mammalian ATP synthase. Biochim Biophys Acta 1787:529-532.
-
(2009)
Biochim Biophys Acta
, vol.1787
, pp. 529-532
-
-
Houstek, J.1
Kmoch, S.2
Zeman, J.3
-
34
-
-
0035216885
-
Accumulation of mitochondrial DNA deletions in the malignant prostate of patients of different ages
-
Jessie BC, Sun CQ, Irons HR, et al. 2001. Accumulation of mitochondrial DNA deletions in the malignant prostate of patients of different ages. Exp Gerontol 37:169-174.
-
(2001)
Exp Gerontol
, vol.37
, pp. 169-174
-
-
Jessie, B.C.1
Sun, C.Q.2
Irons, H.R.3
-
35
-
-
0033780507
-
The human ribosomal protein L6 gene in a critical region for Noonan syndrome
-
Kenmochi N, Yoshihama M, Higa S, et al. 2000. The human ribosomal protein L6 gene in a critical region for Noonan syndrome. J Hum Genet 45:290-293.
-
(2000)
J Hum Genet
, vol.45
, pp. 290-293
-
-
Kenmochi, N.1
Yoshihama, M.2
Higa, S.3
-
36
-
-
58149349815
-
Mitochondrial medicine: Entering the era of treatment
-
Koene S, Smeitink J. 2009. Mitochondrial medicine: entering the era of treatment. J Intern Med 265:193-209.
-
(2009)
J Intern Med
, vol.265
, pp. 193-209
-
-
Koene, S.1
Smeitink, J.2
-
37
-
-
0034722872
-
Clinical heterogeneity in mitochondrial DNA deletion disorders: A diagnostic challenge of Pearson syndrome
-
Lacbawan F, Tifft CJ, Luban NL, et al. 2000. Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome. Am J Med Genet 95:266-268.
-
(2000)
Am J Med Genet
, vol.95
, pp. 266-268
-
-
Lacbawan, F.1
Tifft, C.J.2
Luban, N.L.3
-
38
-
-
41149121580
-
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency
-
Lagier-Tourenne C, Tazir M, Lopez LC, et al. 2008. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet 82:661-672.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 661-672
-
-
Lagier-Tourenne, C.1
Tazir, M.2
Lopez, L.C.3
-
39
-
-
0036327184
-
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
-
Lamantea E, Tiranti V, Bordoni A, et al. 2002. Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 52:211-219.
-
(2002)
Ann Neurol
, vol.52
, pp. 211-219
-
-
Lamantea, E.1
Tiranti, V.2
Bordoni, A.3
-
40
-
-
58349099821
-
Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation
-
Lee NC, Dimmock D, Hwu WL, et al. 2009. Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation. Arch Dis Child 94:55-58.
-
(2009)
Arch Dis Child
, vol.94
, pp. 55-58
-
-
Lee, N.C.1
Dimmock, D.2
Hwu, W.L.3
-
41
-
-
0032486118
-
Yield of mtDNA mutation analysis in 2,000 patients
-
DOI 10.1002/(SICI)1096-8628(19980605)77:5<395::AID-AJMG8>3.0.CO;2-M
-
Liang MH, Wong LJ. 1998. Yield of mtDNA mutation analysis in 2,000 patients. Am J Med Genet 77:395-400. (Pubitemid 28283685)
-
(1998)
American Journal of Medical Genetics
, vol.77
, Issue.5
, pp. 395-400
-
-
Liang, M.-H.1
Wong, L.-J.C.2
-
42
-
-
67651062419
-
De novo mutations in POLG presenting with acute liver failure or encephalopathy
-
Lutz RE, Dimmock D, Schmitt ES, et al. 2009. De novo mutations in POLG presenting with acute liver failure or encephalopathy. J Pediatr Gastroenterol Nutr 49:126-129.
-
(2009)
J Pediatr Gastroenterol Nutr
, vol.49
, pp. 126-129
-
-
Lutz, R.E.1
Dimmock, D.2
Schmitt, E.S.3
-
43
-
-
0035183256
-
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
-
Mandel H, Szargel R, Labay V, et al. 2001. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 29:337-341.
-
(2001)
Nat Genet
, vol.29
, pp. 337-341
-
-
Mandel, H.1
Szargel, R.2
Labay, V.3
-
44
-
-
75549091892
-
New strategies and emerging technologies for massively parallel sequencing: Applications in medical research
-
Mardis ER. 2009. New strategies and emerging technologies for massively parallel sequencing: applications in medical research. Genome Med 1:40.
-
(2009)
Genome Med
, vol.1
, pp. 40
-
-
Mardis, E.R.1
-
45
-
-
9144268494
-
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation
-
Miller C, Saada A, Shaul N, et al. 2004. Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann Neurol 56:734-738.
-
(2004)
Ann Neurol
, vol.56
, pp. 734-738
-
-
Miller, C.1
Saada, A.2
Shaul, N.3
-
46
-
-
48549101970
-
Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations
-
Milone M, Brunetti-Pierri N, Tang LY, et al. 2008. Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. Neuromuscul Disord 18:626-632.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 626-632
-
-
Milone, M.1
Brunetti-Pierri, N.2
Tang, L.Y.3
-
47
-
-
67349118193
-
Mitochondrial disorder with OPA1 mutation lacking optic atrophy
-
Milone M, Younge BR, Wang J, et al. 2009. Mitochondrial disorder with OPA1 mutation lacking optic atrophy. Mitochondrion 9:279-281.
-
(2009)
Mitochondrion
, vol.9
, pp. 279-281
-
-
Milone, M.1
Younge, B.R.2
Wang, J.3
-
48
-
-
41149134880
-
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
-
Mollet J, Delahodde A, Serre V, et al. 2008. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet 82:623-630.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 623-630
-
-
Mollet, J.1
Delahodde, A.2
Serre, V.3
-
49
-
-
33847347629
-
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders
-
Mollet J, Giurgea I, Schlemmer D, et al. 2007. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest 117:765-772.
-
(2007)
J Clin Invest
, vol.117
, pp. 765-772
-
-
Mollet, J.1
Giurgea, I.2
Schlemmer, D.3
-
50
-
-
33746381946
-
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay
-
Naimi M, Bannwarth S, Procaccio V, et al. 2006. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. Eur J Hum Genet 14:917-922.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 917-922
-
-
Naimi, M.1
Bannwarth, S.2
Procaccio, V.3
-
51
-
-
2142705756
-
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
-
Naviaux RK, Nguyen KV. 2004. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 55:706-712.
-
(2004)
Ann Neurol
, vol.55
, pp. 706-712
-
-
Naviaux, R.K.1
Nguyen, K.V.2
-
53
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
Nishino I, Spinazzola A, Hirano M. 1999. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283:689-692. (Pubitemid 129506238)
-
(1999)
Science
, vol.283
, Issue.5402
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
54
-
-
34547736513
-
Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion
-
Ostergaard E, Christensen E, Kristensen E, et al. 2007a. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am J Hum Genet 81: 383-387.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 383-387
-
-
Ostergaard, E.1
Christensen, E.2
Kristensen, E.3
-
55
-
-
33947145697
-
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations
-
Ostergaard E, Hansen FJ, Sorensen N, et al. 2007b. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 130:853-861.
-
(2007)
Brain
, vol.130
, pp. 853-861
-
-
Ostergaard, E.1
Hansen, F.J.2
Sorensen, N.3
-
56
-
-
46349103594
-
A mitochondrial protein compendium elucidates complex I disease biology
-
Pagliarini DJ, Calvo SE, Chang B, et al. 2008. A mitochondrial protein compendium elucidates complex I disease biology. Cell 134:112-123.
-
(2008)
Cell
, vol.134
, pp. 112-123
-
-
Pagliarini, D.J.1
Calvo, S.E.2
Chang, B.3
-
57
-
-
21244449941
-
Mitochondrial myopathy and sidero-blastic anemia (MLASA): Missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation
-
Patton JR, Bykhovskaya Y, Mengesha E, et al. 2005. Mitochondrial myopathy and sidero-blastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. J Biol Chem 280:19823-19828.
-
(2005)
J Biol Chem
, vol.280
, pp. 19823-19828
-
-
Patton, J.R.1
Bykhovskaya, Y.2
Mengesha, E.3
-
58
-
-
31544480133
-
10 deficiency
-
DOI 10.1086/500092
-
Quinzii C, Naini A, Salviati L, et al. 2006. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet 78:345-349. (Pubitemid 43157573)
-
(2006)
American Journal of Human Genetics
, vol.78
, Issue.2
, pp. 345-349
-
-
Quinzii, C.1
Naini, A.2
Salviati, L.3
Trevisson, E.4
Navas, P.5
DiMauro, S.6
Hirano, M.7
-
59
-
-
13244277454
-
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
-
Quinzii CM, Kattah AG, Naini A, et al. 2005. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 64:539-541.
-
(2005)
Neurology
, vol.64
, pp. 539-541
-
-
Quinzii, C.M.1
Kattah, A.G.2
Naini, A.3
-
60
-
-
66749128531
-
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neo-natal mitochondrial disease
-
Saada A, Vogel RO, Hoefs SJ, et al. 2009. Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neo-natal mitochondrial disease. Am J Hum Genet 84:718-727.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 718-727
-
-
Saada, A.1
Vogel, R.O.2
Hoefs, S.J.3
-
61
-
-
77649188407
-
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders
-
Saneto RP, Lee IC, Koenig MK, et al. 2010. POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure 19:140-146.
-
(2010)
Seizure
, vol.19
, pp. 140-146
-
-
Saneto, R.P.1
Lee, I.C.2
Koenig, M.K.3
-
62
-
-
37849003416
-
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion
-
Sarzi E, Goffart S, Serre V, et al. 2007. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol 62:579-587.
-
(2007)
Ann Neurol
, vol.62
, pp. 579-587
-
-
Sarzi, E.1
Goffart, S.2
Serre, V.3
-
63
-
-
34047109743
-
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
-
Scheper GC, van der Klok T, van Andel RJ, et al. 2007. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 39:534-539.
-
(2007)
Nat Genet
, vol.39
, pp. 534-539
-
-
Scheper, G.C.1
Van Der Klok, T.2
Van Andel, R.J.3
-
64
-
-
68549101959
-
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B
-
Shaibani A, Shchelochkov OA, Zhang S, et al. 2009. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol 66:1028-1032.
-
(2009)
Arch Neurol
, vol.66
, pp. 1028-1032
-
-
Shaibani, A.1
Shchelochkov, O.A.2
Zhang, S.3
-
65
-
-
10644246729
-
Molecular analysis for mitochondrial DNA disorders
-
DOI 10.1016/j.mito.2004.07.026, PII S1567724904001692
-
Shanske S, Wong LJ. 2004. Molecular analysis for mitochondrial DNA disorders. Mitochondrion 4:403-415. (Pubitemid 39646794)
-
(2004)
Mitochondrion
, vol.4
, Issue.5-6 SPEC. ISS
, pp. 403-415
-
-
Shanske, S.1
Wong, L.-J.C.2
-
66
-
-
60949089458
-
High-frequency detection of deletions and variable rearrangements at the ornithine trans-carbamylase (OTC) locus by oligonucleotide array CGH
-
Shchelochkov OA, Li FY, Geraghty MT, et al. 2009. High-frequency detection of deletions and variable rearrangements at the ornithine trans-carbamylase (OTC) locus by oligonucleotide array CGH. Mol Genet Metab 96:97-105.
-
(2009)
Mol Genet Metab
, vol.96
, pp. 97-105
-
-
Shchelochkov, O.A.1
Li, F.Y.2
Geraghty, M.T.3
-
67
-
-
0035349906
-
The genetics and pathology of oxidative phosphorylation
-
Smeitink J, van den Heuvel L, DiMauro S. 2001. The genetics and pathology of oxidative phosphorylation. Nat Rev Genet 2:342-352.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 342-352
-
-
Smeitink, J.1
Van Den Heuvel, L.2
DiMauro, S.3
-
68
-
-
33751085653
-
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs
-
Smeitink JA, Elpeleg O, Antonicka H, et al. 2006. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet 79:869-877.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 869-877
-
-
Smeitink, J.A.1
Elpeleg, O.2
Antonicka, H.3
-
69
-
-
0027021442
-
Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain
-
Soong NW, Hinton DR, Cortopassi G, et al. 1992. Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain. Nat Genet 2:318-323.
-
(1992)
Nat Genet
, vol.2
, pp. 318-323
-
-
Soong, N.W.1
Hinton, D.R.2
Cortopassi, G.3
-
70
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
-
Spelbrink JN, Li FY, Tiranti V, et al. 2001. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 28:223-231.
-
(2001)
Nat Genet
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
Li, F.Y.2
Tiranti, V.3
-
71
-
-
64449087543
-
Clinical and molecular features of mitochondrial DNA depletion syndromes
-
Spinazzola A, Invernizzi F, Carrara F, et al. 2009. Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 32:143-158.
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 143-158
-
-
Spinazzola, A.1
Invernizzi, F.2
Carrara, F.3
-
72
-
-
33646376465
-
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
-
Spinazzola A, Viscomi C, Fernandez-Vizarra E, et al. 2006. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 38:570-575.
-
(2006)
Nat Genet
, vol.38
, pp. 570-575
-
-
Spinazzola, A.1
Viscomi, C.2
Fernandez-Vizarra, E.3
-
73
-
-
23644436319
-
Disorders of nuclear-mitochondrial intergenomic signaling
-
Spinazzola A, Zeviani M. 2005. Disorders of nuclear-mitochondrial intergenomic signaling. Gene 354:162-168.
-
(2005)
Gene
, vol.354
, pp. 162-168
-
-
Spinazzola, A.1
Zeviani, M.2
-
74
-
-
34250662313
-
Disorders of nuclear-mitochondrial intergenomic communication
-
Spinazzola A, Zeviani M. 2007. Disorders of nuclear-mitochondrial intergenomic communication. Biosci Rep 27:39-51.
-
(2007)
Biosci Rep
, vol.27
, pp. 39-51
-
-
Spinazzola, A.1
Zeviani, M.2
-
75
-
-
58149333245
-
Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk
-
Spinazzola A, Zeviani M. 2009. Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk. J Intern Med 265:174-192.
-
(2009)
J Intern Med
, vol.265
, pp. 174-192
-
-
Spinazzola, A.1
Zeviani, M.2
-
76
-
-
0036170578
-
Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer
-
Tan DJ, Bai RK, Wong LJ. 2002. Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer. Cancer Res 62:972-976. (Pubitemid 34160271)
-
(2002)
Cancer Research
, vol.62
, Issue.4
, pp. 972-976
-
-
Tan, D.-J.1
Bai, R.-K.2
Wong, L.-J.C.3
-
77
-
-
2942590933
-
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality
-
Tay SK, Shanske S, Kaplan P, et al. 2004. Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. Arch Neurol 61:950-952.
-
(2004)
Arch Neurol
, vol.61
, pp. 950-952
-
-
Tay, S.K.1
Shanske, S.2
Kaplan, P.3
-
78
-
-
0032470811
-
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
-
Tiranti V, Hoertnagel K, Carrozzo R, et al. 1998. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63:1609-1621.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1609-1621
-
-
Tiranti, V.1
Hoertnagel, K.2
Carrozzo, R.3
-
79
-
-
67651097815
-
The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex
-
Valente L, Shigi N, Suzuki T, et al. 2009. The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex. Biochim Biophys Acta 1792:791-795.
-
(2009)
Biochim Biophys Acta
, vol.1792
, pp. 791-795
-
-
Valente, L.1
Shigi, N.2
Suzuki, T.3
-
80
-
-
0033754154
-
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy
-
Valnot I, Osmond S, Gigarel N, et al. 2000. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet 67: 1104-1109.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1104-1109
-
-
Valnot, I.1
Osmond, S.2
Gigarel, N.3
-
81
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
Van Goethem G, Dermaut B, Lofgren A, et al. 2001. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28:211-212.
-
(2001)
Nat Genet
, vol.28
, pp. 211-212
-
-
Van Goethem, G.1
Dermaut, B.2
Lofgren, A.3
-
82
-
-
0037306061
-
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
-
Van Goethem G, Martin JJ, Dermaut B, et al. 2003. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord 13:133-142.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 133-142
-
-
Van Goethem, G.1
Martin, J.J.2
Dermaut, B.3
-
83
-
-
66849097994
-
Finding twinkle in the eyes of a 71-year-old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease
-
Van Hove JL, Cunningham V, Rice C, et al. 2009. Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. Am J Med Genet A 149A:861-867.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 861-867
-
-
Van Hove, J.L.1
Cunningham, V.2
Rice, C.3
-
84
-
-
76249100243
-
Next generation sequence analysis for mitochondrial disorders
-
Vasta V, Ng SB, Turner EH, et al. 2009. Next generation sequence analysis for mitochondrial disorders. Genome Med 1:100.
-
(2009)
Genome Med
, vol.1
, pp. 100
-
-
Vasta, V.1
Ng, S.B.2
Turner, E.H.3
-
85
-
-
0033525773
-
Mitochondrial diseases in man and mouse
-
Wallace DC. 1999. Mitochondrial diseases in man and mouse. Science 283:1482-1488.
-
(1999)
Science
, vol.283
, pp. 1482-1488
-
-
Wallace, D.C.1
-
86
-
-
0001294889
-
Mitochondria and neuro-ophthalmologic diseases
-
Scriver CR, Beaudet AL, Sly WS, et al., editors. New York: McGraw-Hill
-
Wallace DC, Lott MT, Brown MD, et al. 2001. Mitochondria and neuro-ophthalmologic diseases. In:Scriver CR, Beaudet AL, Sly WS, et al., editors.The metabolic and molecular bases of inherited disease, Vol II. New York: McGraw-Hill. p2425-2509.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.2
, pp. 2425-2509
-
-
Wallace, D.C.1
Lott, M.T.2
Brown, M.D.3
-
87
-
-
0029071513
-
Mitochondrial DNA mutations in human degenerative diseases and aging
-
Wallace DC, Shoffner JM, Trounce I, et al. 1995. Mitochondrial DNA mutations in human degenerative diseases and aging. Biochim Biophys Acta 1271:141-151.
-
(1995)
Biochim Biophys Acta
, vol.1271
, pp. 141-151
-
-
Wallace, D.C.1
Shoffner, J.M.2
Trounce, I.3
-
88
-
-
44749093824
-
Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency
-
Willems PH, Valsecchi F, Distelmaier F, et al. 2008. Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency. Cell Calcium 44:123-133.
-
(2008)
Cell Calcium
, vol.44
, pp. 123-133
-
-
Willems, P.H.1
Valsecchi, F.2
Distelmaier, F.3
-
89
-
-
0035746672
-
Recognition of mitochondrial DNA deletion syndrome with non-neuro-muscular multisystemic manifestation
-
Wong LJ. 2001. Recognition of mitochondrial DNA deletion syndrome with non-neuro-muscular multisystemic manifestation. Genet Med 3:399-404.
-
(2001)
Genet Med
, vol.3
, pp. 399-404
-
-
Wong, L.J.1
-
90
-
-
36348966712
-
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
-
Wong LJ, Brunetti-Pierri N, Zhang Q, et al. 2007. Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology 46:1218-1227.
-
(2007)
Hepatology
, vol.46
, pp. 1218-1227
-
-
Wong, L.J.1
Brunetti-Pierri, N.2
Zhang, Q.3
-
91
-
-
47549119057
-
Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions
-
Wong LJ, Dimmock D, Geraghty MT, et al. 2008a. Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. Clin Chem 54:1141-1148.
-
(2008)
Clin Chem
, vol.54
, pp. 1141-1148
-
-
Wong, L.J.1
Dimmock, D.2
Geraghty, M.T.3
-
92
-
-
57849140614
-
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
-
Wong LJ, Naviaux RK, Brunetti-Pierri N, et al. 2008b. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 29:E150-E172.
-
(2008)
Hum Mutat
, vol.29
-
-
Wong, L.J.1
Naviaux, R.K.2
Brunetti-Pierri, N.3
-
93
-
-
77951974136
-
Current molecular diagnostic algorithm for mitochondrial disorders
-
Wong LJ, Scaglia F, Graham BH, et al. 2010. Current molecular diagnostic algorithm for mitochondrial disorders. Mol Genet Metab 100:111-117.
-
(2010)
Mol Genet Metab
, vol.100
, pp. 111-117
-
-
Wong, L.J.1
Scaglia, F.2
Graham, B.H.3
-
94
-
-
0030850573
-
Direct detection of multiple point mutations in mitochondrial DNA
-
Wong LJ, Senadheera D. 1997. Direct detection of multiple point mutations in mitochondrial DNA. Clin Chem 43:1857-1861. (Pubitemid 27452273)
-
(1997)
Clinical Chemistry
, vol.43
, Issue.10
, pp. 1857-1861
-
-
Wong, L.-J.C.1
Senadheera, D.2
-
95
-
-
71649096207
-
Application of oligonucleotide aCGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion
-
Zhang S, Li FY, Bass HN, et al. 2010. Application of oligonucleotide aCGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion. Mol Genet Metab 99:53-57.
-
(2010)
Mol Genet Metab
, vol.99
, pp. 53-57
-
-
Zhang, S.1
Li, F.Y.2
Bass, H.N.3
-
96
-
-
17344362021
-
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
-
Zhu Z, Yao J, Johns T, et al. 1998. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 20:337-343.
-
(1998)
Nat Genet
, vol.20
, pp. 337-343
-
-
Zhu, Z.1
Yao, J.2
Johns, T.3
|