-
1
-
-
13444271415
-
Mitochondrial genes in degenerative diseases, cancer and aging
-
Rimoin DL, Connor JM, Pyeritz RE, et al., editors. London: Churchill Livingstone
-
Wallace DC, Lott MT. Mitochondrial genes in degenerative diseases, cancer and aging. In: Rimoin DL, Connor JM, Pyeritz RE, et al., editors. Emery and Rimoin's principles and practice of medical genetics. 4th ed. London: Churchill Livingstone; 2002: 299-409
-
(2002)
Emery and Rimoin's Principles and Practice of Medical Genetics. 4th Ed.
, pp. 299-409
-
-
Wallace, D.C.1
Lott, M.T.2
-
2
-
-
3543029271
-
Mitochondrial diseases
-
Jul 23
-
DiMauro S. Mitochondrial diseases. Biochim Biophys Acta 2004 Jul 23; 1658 (1-2): 80-8
-
(2004)
Biochim Biophys Acta
, vol.1658
, Issue.1-2
, pp. 80-88
-
-
DiMauro, S.1
-
3
-
-
13444256467
-
MITOMAP: A human mitochondrial genome database. 2004 Update
-
Jan 1
-
Brandon MC, Lott MT, Nguyen KC, et al. MITOMAP: a human mitochondrial genome database. 2004 update. Nucleic Acids Res 2005 Jan 1; 33 (database issue): D611-3
-
(2005)
Nucleic Acids Res
, vol.33
, Issue.DATABASE ISSUE
-
-
Brandon, M.C.1
Lott, M.T.2
Nguyen, K.C.3
-
5
-
-
9644266773
-
Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders
-
Dec 6
-
Thorburn DR, Sugiana C, Salemi R, et al. Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders. Biochim Biophys Acta 2004 Dec 6; 1659 (2-3): 121-8
-
(2004)
Biochim Biophys Acta
, vol.1659
, Issue.2-3
, pp. 121-128
-
-
Thorburn, D.R.1
Sugiana, C.2
Salemi, R.3
-
6
-
-
0037406049
-
Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction
-
May
-
Carelli V, Giordano C, d'Amati G. Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. Trends Genet 2003 May; 19 (5): 257-62
-
(2003)
Trends Genet
, vol.19
, Issue.5
, pp. 257-262
-
-
Carelli, V.1
Giordano, C.2
D'Amati, G.3
-
7
-
-
0026906885
-
Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
-
van den Ouweland JM, Lemkes HH, Ruitenbeek W, et al. Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genet 1992; 1 (5): 368-71
-
(1992)
Nature Genet
, vol.1
, Issue.5
, pp. 368-371
-
-
Van Den Ouweland, J.M.1
Lemkes, H.H.2
Ruitenbeek, W.3
-
8
-
-
0026849690
-
Maternally transmitted diabetes and deafness associated with a 10.4kb mitochondrial DNA deletion
-
Apr
-
Ballinger SW, Shoffner JM, Hedaya EV, et al. Maternally transmitted diabetes and deafness associated with a 10.4kb mitochondrial DNA deletion. Nature Genet 1992 Apr; 1 (1): 11-5
-
(1992)
Nature Genet
, vol.1
, Issue.1
, pp. 11-15
-
-
Ballinger, S.W.1
Shoffner, J.M.2
Hedaya, E.V.3
-
9
-
-
0027996170
-
Prevalence of maternally inherited diabetes and deafness in diabetic populations in the Netherlands
-
Nov
-
t'Hart LM, Lemkes HH, Heine RJ, et al. Prevalence of maternally inherited diabetes and deafness in diabetic populations in The Netherlands. Diabetologia 1994 Nov; 37 (11): 1169-70
-
(1994)
Diabetologia
, vol.37
, Issue.11
, pp. 1169-1170
-
-
T'Hart, L.M.1
Lemkes, H.H.2
Heine, R.J.3
-
10
-
-
0032231623
-
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population
-
Majamaa K, Moilanen JS, Uimonen S, et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet 1998; 63 (2): 447-54
-
(1998)
Am J Hum Genet
, vol.63
, Issue.2
, pp. 447-454
-
-
Majamaa, K.1
Moilanen, J.S.2
Uimonen, S.3
-
11
-
-
0036241245
-
Mitochondrial factors in the pathogenesis of diabetes: A hypothesis for treatment
-
Apr
-
Lamson DW, Plaza SM. Mitochondrial factors in the pathogenesis of diabetes: a hypothesis for treatment. Altern Med Rev 2002 Apr; 7 (2): 94-111
-
(2002)
Altern Med Rev
, vol.7
, Issue.2
, pp. 94-111
-
-
Lamson, D.W.1
Plaza, S.M.2
-
12
-
-
0034705419
-
Leu(UUR mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes
-
Jun 23
-
Leu(UUR mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. J Biol Chem 2000 Jun 23; 275 (25): 19198-209
-
(2000)
J Biol Chem
, vol.275
, Issue.25
, pp. 19198-19209
-
-
Chomyn, A.1
Enriquez, J.A.2
Micol, V.3
-
13
-
-
0025666322
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348 (6302): 651-3
-
(1990)
Nature
, vol.348
, Issue.6302
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
14
-
-
14644402355
-
Mitochondrial DNA analysis in clinical laboratory diagnostics
-
Apr
-
Wong LJ, Boles RG. Mitochondrial DNA analysis in clinical laboratory diagnostics. Clin Chim Acta 2005 Apr; 354 (1-2): 1-20
-
(2005)
Clin Chim Acta
, vol.354
, Issue.1-2
, pp. 1-20
-
-
Wong, L.J.1
Boles, R.G.2
-
15
-
-
0242522947
-
Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations
-
Nov
-
Moraes CT, Atencio DP, Oca-Cossio J, et al. Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations. J Mol Diagn 2003 Nov; 5 (4): 197-208
-
(2003)
J Mol Diagn
, vol.5
, Issue.4
, pp. 197-208
-
-
Moraes, C.T.1
Atencio, D.P.2
Oca-Cossio, J.3
-
16
-
-
0032880563
-
Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis
-
Chen TJ, Boles RG, Wong LJ. Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis. Clin Chem 1999; 45 (8 Pt 1): 1162-7
-
(1999)
Clin Chem
, vol.45
, Issue.8 PART 1
, pp. 1162-1167
-
-
Chen, T.J.1
Boles, R.G.2
Wong, L.J.3
-
17
-
-
12944277023
-
High-throughput mitochondrial genome screening method for nonmelanoma skin cancer using multiplexed temperature gradient capillary electrophoresis
-
Feb
-
Girald-Rosa W, Vleugels RA, Musiek AC, et al. High-throughput mitochondrial genome screening method for nonmelanoma skin cancer using multiplexed temperature gradient capillary electrophoresis. Clin Chem 2005 Feb; 51 (2): 305-11
-
(2005)
Clin Chem
, vol.51
, Issue.2
, pp. 305-311
-
-
Girald-Rosa, W.1
Vleugels, R.A.2
Musiek, A.C.3
-
18
-
-
0034667187
-
Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography
-
Oct 15
-
van Den Bosch BJ, de Coo RF, Scholte HR, et al. Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography. Nucleic Acids Res 2000 Oct 15; 28 (20): E89
-
(2000)
Nucleic Acids Res
, vol.28
, Issue.20
-
-
Van Den Bosch, B.J.1
De Coo, R.F.2
Scholte, H.R.3
-
19
-
-
11444267614
-
Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography
-
Jan
-
Biggin A, Henke R, Bennetts B, et al. Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography. Mol Genet Metab 2005 Jan; 84 (1): 61-74
-
(2005)
Mol Genet Metab
, vol.84
, Issue.1
, pp. 61-74
-
-
Biggin, A.1
Henke, R.2
Bennetts, B.3
-
20
-
-
20344384545
-
Surveyor nuclease: A new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects
-
Jun
-
Bannwarth S, Procaccio V, Paquis-Flucklinger V. Surveyor nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects. Hum Mutat 2005 Jun; 25 (6): 575-82
-
(2005)
Hum Mutat
, vol.25
, Issue.6
, pp. 575-582
-
-
Bannwarth, S.1
Procaccio, V.2
Paquis-Flucklinger, V.3
-
21
-
-
0027936218
-
Cytoplasmic transfer of the mtDNA nt 8993 TG (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio
-
Aug 30
-
Trounce I, Neill S, Wallace DC. Cytoplasmic transfer of the mtDNA nt 8993 TG (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio. Proc Natl Acad Sci U S A 1994 Aug 30; 91 (18): 8334-8
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, Issue.18
, pp. 8334-8338
-
-
Trounce, I.1
Neill, S.2
Wallace, D.C.3
-
22
-
-
0029877507
-
Use of ethidium bromide to manipulate ratio of mutated and wild-type mitochondrial DNA in cultured cells
-
King MP. Use of ethidium bromide to manipulate ratio of mutated and wild-type mitochondrial DNA in cultured cells. Methods Enzymol 1996; 264: 339-44
-
(1996)
Methods Enzymol
, vol.264
, pp. 339-344
-
-
King, M.P.1
-
24
-
-
0029964226
-
Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines
-
Trounce IA, Kim YL, Jun AS, et al. Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines. Methods Enzymol 1996; 264: 484-509
-
(1996)
Methods Enzymol
, vol.264
, pp. 484-509
-
-
Trounce, I.A.1
Kim, Y.L.2
Jun, A.S.3
-
25
-
-
0026718556
-
Leu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): Genetic, biochemical, and morphological correlations in skeletal muscle
-
Leu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet 1992; 50 (5): 934-49
-
(1992)
Am J Hum Genet
, vol.50
, Issue.5
, pp. 934-949
-
-
Moraes, C.T.1
Ricci, E.2
Bonilla, E.3
-
26
-
-
0029867177
-
Insulin resistance associated with maternally inherited diabetes and deafness
-
Gebhart SS, Shoffner JM, Koontz D, et al. Insulin resistance associated with maternally inherited diabetes and deafness. Metabolism 1996; 45 (4): 526-31
-
(1996)
Metabolism
, vol.45
, Issue.4
, pp. 526-531
-
-
Gebhart, S.S.1
Shoffner, J.M.2
Koontz, D.3
-
27
-
-
0034327572
-
The age-related accumulation of a mitochondrial DNA control region mutation in muscle, but not brain, detected by a sensitive PNA-directed PCR clamping based method
-
Nov 1
-
Murdock DG, Christacos NC, Wallace DC. The age-related accumulation of a mitochondrial DNA control region mutation in muscle, but not brain, detected by a sensitive PNA-directed PCR clamping based method. Nucleic Acids Res 2000 Nov 1; 28 (21): 4350-5
-
(2000)
Nucleic Acids Res
, vol.28
, Issue.21
, pp. 4350-4355
-
-
Murdock, D.G.1
Christacos, N.C.2
Wallace, D.C.3
-
28
-
-
4644269393
-
Varying loads of the mitochondrial DNA A3243G mutation in different tissues: Implications for diagnosis
-
Oct 1
-
Shanske S, Pancrudo J, Kaufmann P, et al. Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. Am J Med Genet A 2004 Oct 1; 130 (2): 134-7
-
(2004)
Am J Med Genet A
, vol.130
, Issue.2
, pp. 134-137
-
-
Shanske, S.1
Pancrudo, J.2
Kaufmann, P.3
-
29
-
-
0035710879
-
The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness
-
Dec
-
Olsson C, Johnsen E, Nilsson M, et al. The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness. Eur J Hum Genet 2001 Dec; 9 (12): 917-21
-
(2001)
Eur J Hum Genet
, vol.9
, Issue.12
, pp. 917-921
-
-
Olsson, C.1
Johnsen, E.2
Nilsson, M.3
-
30
-
-
0034746790
-
Decrease of 3243 A>G mtDNA mutation from blood in MELAS syndrome: A longitudinal study
-
Rahman S, Poulton J, Marchington D, et al. Decrease of 3243 A>G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. Am J Hum Genet 2001; 68 (1): 238-40
-
(2001)
Am J Hum Genet
, vol.68
, Issue.1
, pp. 238-240
-
-
Rahman, S.1
Poulton, J.2
Marchington, D.3
-
31
-
-
0035341093
-
Maternally inherited diabetes and deafness: A multicenter study
-
Guillausseau PJ, Massin P, Dubois-LaForque D, et al. Maternally inherited diabetes and deafness: a multicenter study. Ann Intern Med 2001; 134 (9 Pt 1): 721-8
-
(2001)
Ann Intern Med
, vol.134
, Issue.9 PART 1
, pp. 721-728
-
-
Guillausseau, P.J.1
Massin, P.2
Dubois-LaForque, D.3
-
32
-
-
4744355266
-
Metformin inhibits mitochondrial permeability transition and cell death: A pharmacological in vitro study
-
Sep 15
-
Guigas B, Detaille D, Chauvin C, et al. Metformin inhibits mitochondrial permeability transition and cell death: a pharmacological in vitro study. Biochem J 2004 Sep 15; 382 (Pt 3): 877-84
-
(2004)
Biochem J
, vol.382
, Issue.PART 3
, pp. 877-884
-
-
Guigas, B.1
Detaille, D.2
Chauvin, C.3
|