-
1
-
-
0029587469
-
Molecular genetic aspects of human mitochondrial disorders
-
Larsson NG & Clayton DA. Molecular genetic aspects of human mitochondrial disorders. Annual Review of Genetics 1995; 29: 151-178.
-
(1995)
Annual Review of Genetics
, vol.29
, pp. 151-178
-
-
Larsson, N.G.1
Clayton, D.A.2
-
5
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BG et al. Sequence and organization of the human mitochondrial genome. Nature 1981; 290: 457-465.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
-
6
-
-
0032868141
-
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
-
Andrews RM, Kubacka I, Chinnery PF et al. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nature Genetics 1999; 23: 147.
-
(1999)
Nature Genetics
, vol.23
, pp. 147
-
-
Andrews, R.M.1
Kubacka, I.2
Chinnery, P.F.3
-
7
-
-
0003545935
-
-
Center for Molecular Medicine, Emory University, Atlanta, GA, USA
-
MITOMAP: A Human Mitochondrial Genome Database. Center for Molecular Medicine, Emory University, Atlanta, GA, USA. http://www.gen.emory.edu/mitomap. html [2001].
-
(2001)
MITOMAP: A Human Mitochondrial Genome Database
-
-
-
8
-
-
0025885770
-
Replication and transcription of vertebrate mitochondrial DNA
-
Clayton DA. Replication and transcription of vertebrate mitochondrial DNA. Annual Review of Cell Biology 1991; 7: 453-478.
-
(1991)
Annual Review of Cell Biology
, vol.7
, pp. 453-478
-
-
Clayton, D.A.1
-
10
-
-
0030664064
-
Mammalian mitochondrial genetics: Heredity, heteroplasmy and disease
-
Lightowlers RN, Chinnery PF, Turnbull DM et al. Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. Trends in Genetics 1997; 13: 450-455.
-
(1997)
Trends in Genetics
, vol.13
, pp. 450-455
-
-
Lightowlers, R.N.1
Chinnery, P.F.2
Turnbull, D.M.3
-
11
-
-
0034807201
-
Downregulation of Tfam and mtDNA copy number during mammalian spermatogenesis
-
Rantanen A, Jansson M, Oldfors A & Larsson NG. Downregulation of Tfam and mtDNA copy number during mammalian spermatogenesis. Mammalian Genome 2001; 12: 787-792.
-
(2001)
Mammalian Genome
, vol.12
, pp. 787-792
-
-
Rantanen, A.1
Jansson, M.2
Oldfors, A.3
Larsson, N.G.4
-
12
-
-
0033659701
-
Regulation of mtDNA copy numbe during spermatogenesis
-
Rantanen A & Larsson NG. Regulation of mtDNA copy numbe during spermatogenesis. Human Reproduction 2000; 15 (supplement 2): 86-91.
-
(2000)
Human Reproduction
, vol.15
, Issue.SUPPL. 2
, pp. 86-91
-
-
Rantanen, A.1
Larsson, N.G.2
-
15
-
-
0025944643
-
Replacement of bovine mitochondrial DNA by a sequence variant within one generation
-
Koehler CM, Lindberg GL, Brown DR et al. Replacement of bovine mitochondrial DNA by a sequence variant within one generation. Genetics 1991; 129: 247-255.
-
(1991)
Genetics
, vol.129
, pp. 247-255
-
-
Koehler, C.M.1
Lindberg, G.L.2
Brown, D.R.3
-
16
-
-
0026787065
-
Mitochondrial gene segregation in mammals: Is the bottleneck always narrow?
-
Howell N, Halvorson S, Kubacka I et al. Mitochondrial gene segregation in mammals: is the bottleneck always narrow? Human Genetics 1992; 90: 117-120.
-
(1992)
Human Genetics
, vol.90
, pp. 117-120
-
-
Howell, N.1
Halvorson, S.2
Kubacka, I.3
-
18
-
-
0031049518
-
A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues
-
Degoul F, Francois D, Diry M et al. A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues. Journal of Inherited Metabolic Disease 1997; 20: 49-53.
-
(1997)
Journal of Inherited Metabolic Disease
, vol.20
, pp. 49-53
-
-
Degoul, F.1
Francois, D.2
Diry, M.3
-
19
-
-
0029816795
-
Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA
-
Jenuth JP, Peterson AC, Fu K et al. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nature Genetics 1996; 14: 146-151.
-
(1996)
Nature Genetics
, vol.14
, pp. 146-151
-
-
Jenuth, J.P.1
Peterson, A.C.2
Fu, K.3
-
20
-
-
0033646619
-
Transmission of the human mitochondrial genome
-
Howell N, Chinnery PF, Ghosh SS et al. Transmission of the human mitochondrial genome. Human Reproduction 2000; 15 (supplement 2): 235-245.
-
(2000)
Human Reproduction
, vol.15
, Issue.SUPPL. 2
, pp. 235-245
-
-
Howell, N.1
Chinnery, P.F.2
Ghosh, S.S.3
-
22
-
-
0035474099
-
Nuclear genetic defects of oxidative phosphorylation
-
Shoubridge EA. Nuclear genetic defects of oxidative phosphorylation. Human Molecular Genetics 2001; 10: 2277-2284.
-
(2001)
Human Molecular Genetics
, vol.10
, pp. 2277-2284
-
-
Shoubridge, E.A.1
-
23
-
-
0033362171
-
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993
-
White SL, Collins VR, Wolfe R et al. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. American Journal of Human Genetics 1999; 65: 474-482.
-
(1999)
American Journal of Human Genetics
, vol.65
, pp. 474-482
-
-
White, S.L.1
Collins, V.R.2
Wolfe, R.3
-
24
-
-
0029064615
-
Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation
-
Harding AE, Sweeney MG, Govan GG et al. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. American Journal of Human Genetics 1995; 57: 77-86.
-
(1995)
American Journal of Human Genetics
, vol.57
, pp. 77-86
-
-
Harding, A.E.1
Sweeney, M.G.2
Govan, G.G.3
-
25
-
-
0031951430
-
Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy
-
Macmillan C, Kirkham T, Fu K et al. Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy. Neurology 1998; 50: 417-422.
-
(1998)
Neurology
, vol.50
, pp. 417-422
-
-
Macmillan, C.1
Kirkham, T.2
Fu, K.3
-
26
-
-
0030791665
-
Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes
-
Chinnery PF, Howell N, Lightowlers RN et al. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997; 120: 1713-1721.
-
(1997)
Brain
, vol.120
, pp. 1713-1721
-
-
Chinnery, P.F.1
Howell, N.2
Lightowlers, R.N.3
-
27
-
-
0031712755
-
MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring
-
Chinnery PF, Howell N, Lightowlers RN et al. MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. Brain 1998; 121: 1889-1894.
-
(1998)
Brain
, vol.121
, pp. 1889-1894
-
-
Chinnery, P.F.1
Howell, N.2
Lightowlers, R.N.3
-
28
-
-
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. American Journal of Human Genetics 2001; 68: 238-240.
-
(2001)
American Journal of Human Genetics
, vol.68
, pp. 238-240
-
-
Rahman, S.1
Poulton, J.2
Marchington, D.3
-
29
-
-
0025836655
-
Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction
-
Hayashi J, Ohta S, Kikuchi A et al. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proceedings of the National Academy of Sciences of the USA 1991; 88: 10614-10618.
-
(1991)
Proceedings of the National Academy of Sciences of the USA
, vol.88
, pp. 10614-10618
-
-
Hayashi, J.1
Ohta, S.2
Kikuchi, A.3
-
30
-
-
0025345775
-
Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome
-
Larsson NG, Holme E, Kristiansson B et al. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatric Research 1990; 28: 131-136.
-
(1990)
Pediatric Research
, vol.28
, pp. 131-136
-
-
Larsson, N.G.1
Holme, E.2
Kristiansson, B.3
-
31
-
-
0025968682
-
Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA
-
McShane MA, Hammans SR, Sweeney M et al. Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. American Journal of Human Genetics 1991; 48: 39-42.
-
(1991)
American Journal of Human Genetics
, vol.48
, pp. 39-42
-
-
McShane, M.A.1
Hammans, S.R.2
Sweeney, M.3
-
32
-
-
0026569283
-
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia
-
Rotig A, Bessis JL, Romero N et al. Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. American Journal of Human Genetics 1992; 50: 364-370.
-
(1992)
American Journal of Human Genetics
, vol.50
, pp. 364-370
-
-
Rotig, A.1
Bessis, J.L.2
Romero, N.3
-
33
-
-
0027497228
-
Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome
-
Bernes SM, Bacino C, Prezant TR et al. Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome. Journal of Pediatrics 1993; 123: 598-602.
-
(1993)
Journal of Pediatrics
, vol.123
, pp. 598-602
-
-
Bernes, S.M.1
Bacino, C.2
Prezant, T.R.3
-
34
-
-
0034949930
-
Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
-
Thorburn DR & Dahl HH. Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. American Journal of Medical Genetics 2001; 106: 102-114.
-
(2001)
American Journal of Medical Genetics
, vol.106
, pp. 102-114
-
-
Thorburn, D.R.1
Dahl, H.H.2
-
35
-
-
0026533834
-
Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child
-
Larsson NG, Eiken HG, Boman H et al. Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child. American Journal of Human Genetics 1992; 50: 360-363.
-
(1992)
American Journal of Human Genetics
, vol.50
, pp. 360-363
-
-
Larsson, N.G.1
Eiken, H.G.2
Boman, H.3
-
36
-
-
0034104452
-
Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNA
-
Graff C, Wredenberg A, Silva JP et al. Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNA. Prenatal Diagnosis 2000; 20: 426-431.
-
(2000)
Prenatal Diagnosis
, vol.20
, pp. 426-431
-
-
Graff, C.1
Wredenberg, A.2
Silva, J.P.3
-
37
-
-
0034951326
-
Clinical spectrum and diagnosis of mitochondrial disorders
-
Munnich A & Rustin P. Clinical spectrum and diagnosis of mitochondrial disorders. American Journal of Medical Genetics 2001; 106: 4-17.
-
(2001)
American Journal of Medical Genetics
, vol.106
, pp. 4-17
-
-
Munnich, A.1
Rustin, P.2
-
39
-
-
0035183256
-
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
-
Mandel H, Szargel R, Labay V et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nature Genetics 2001; 29: 337-341.
-
(2001)
Nature Genetics
, vol.29
, pp. 337-341
-
-
Mandel, H.1
Szargel, R.2
Labay, V.3
-
40
-
-
0035179561
-
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
-
Saada A, Shaag A, Mandel H et al. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nature Genetics 2001; 29: 342-344.
-
(2001)
Nature Genetics
, vol.29
, pp. 342-344
-
-
Saada, A.1
Shaag, A.2
Mandel, H.3
-
41
-
-
0034873918
-
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening
-
Amiel J, Gigarel N, Benachi A et al. Prenatal diagnosis of respiratory chain deficiency by direct mutation screening. Prenatal Diagnosis 2001; 21: 602-604.
-
(2001)
Prenatal Diagnosis
, vol.21
, pp. 602-604
-
-
Amiel, J.1
Gigarel, N.2
Benachi, A.3
-
42
-
-
0033797760
-
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency
-
Faivre L, Cormier-Daire V, Chretien D et al. Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency. Prenatal Diagnosis 2000; 20: 732-737.
-
(2000)
Prenatal Diagnosis
, vol.20
, pp. 732-737
-
-
Faivre, L.1
Cormier-Daire, V.2
Chretien, D.3
-
43
-
-
0026511179
-
Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose
-
Wanders RJ, Wijburg FA, Ruiter J et al. Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose. Journal of Inherited Metabolic Disease 1992; 15: 84-91.
-
(1992)
Journal of Inherited Metabolic Disease
, vol.15
, pp. 84-91
-
-
Wanders, R.J.1
Wijburg, F.A.2
Ruiter, J.3
-
44
-
-
0034780656
-
Prenatal diagnosis of disorders of energy metabolism
-
Robinson BH. Prenatal diagnosis of disorders of energy metabolism. Seminars in Neurology 2001; 21: 269-273.
-
(2001)
Seminars in Neurology
, vol.21
, pp. 269-273
-
-
Robinson, B.H.1
-
45
-
-
0034255870
-
74th ENMC international workshop: Mitochondrial diseases, 19-20 November 1999, Naarden, the Netherlands
-
Poulton J & Turnbull DM. 74th ENMC international workshop: mitochondrial diseases, 19-20 November 1999, Naarden, The Netherlands. Neuromuscular Disorders 2000; 10: 460-462.
-
(2000)
Neuromuscular Disorders
, vol.10
, pp. 460-462
-
-
Poulton, J.1
Turnbull, D.M.2
-
46
-
-
0030790458
-
Birth of infant after transfer of anucleate donor oocyte cytoplasm into recipient eggs
-
Cohen J, Scott R, Schimmel T et al. Birth of infant after transfer of anucleate donor oocyte cytoplasm into recipient eggs. Lancet 1997; 350: 186-187.
-
(1997)
Lancet
, vol.350
, pp. 186-187
-
-
Cohen, J.1
Scott, R.2
Schimmel, T.3
-
47
-
-
0035104763
-
Mitochondria in human offspring derived from ooplasmic transplantation
-
Barritt JA, Brenner CA, Malter HE et al. Mitochondria in human offspring derived from ooplasmic transplantation. Human Reproduction 2001; 16: 513-516.
-
(2001)
Human Reproduction
, vol.16
, pp. 513-516
-
-
Barritt, J.A.1
Brenner, C.A.2
Malter, H.E.3
-
48
-
-
0033607643
-
Prevention of human mitochondrial (mtDNA) disease by nucleus transplantation into an enucleated donor oocyte
-
Roberts RM. Prevention of human mitochondrial (mtDNA) disease by nucleus transplantation into an enucleated donor oocyte. American Journal of Medical Genetics 1999; 87: 265-266.
-
(1999)
American Journal of Medical Genetics
, vol.87
, pp. 265-266
-
-
Roberts, R.M.1
-
49
-
-
0032871508
-
Mitochondrial DNA genotypes in nuclear transfer-derived cloned sheep
-
Evans MJ, Gurer C, Loike JD et al. Mitochondrial DNA genotypes in nuclear transfer-derived cloned sheep. Nature Genetics 1999; 23: 90-93.
-
(1999)
Nature Genetics
, vol.23
, pp. 90-93
-
-
Evans, M.J.1
Gurer, C.2
Loike, J.D.3
-
50
-
-
0033917743
-
Mitochondrial DNA heteroplasmy in cloned cattle produced by fetal and adult cell cloning
-
Steinborn R, Schinogl P, Zakhartchenko V et al. Mitochondrial DNA heteroplasmy in cloned cattle produced by fetal and adult cell cloning. Nature Genetics 2000; 25: 255-257.
-
(2000)
Nature Genetics
, vol.25
, pp. 255-257
-
-
Steinborn, R.1
Schinogl, P.2
Zakhartchenko, V.3
-
51
-
-
0029803242
-
In situ localization of mitochondrial DNA replication in intact mammalian cells
-
Davis AF & Clayton DA. In situ localization of mitochondrial DNA replication in intact mammalian cells. Journal of Cell Biology 1996; 135: 883-893.
-
(1996)
Journal of Cell Biology
, vol.135
, pp. 883-893
-
-
Davis, A.F.1
Clayton, D.A.2
|