-
1
-
-
0042266280
-
Minimum birth prevalence of mitochondrial respiratory chain disorders in children
-
Skladal D, Halliday J, Thorburn DR: Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 2003; 126: 1905-1912.
-
(2003)
Brain
, vol.126
, pp. 1905-1912
-
-
Skladal, D.1
Halliday, J.2
Thorburn, D.R.3
-
2
-
-
14244259670
-
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
-
Scaglia F, Towbin JA, Craigen WJ et al: Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004; 114: 925-931.
-
(2004)
Pediatrics
, vol.114
, pp. 925-931
-
-
Scaglia, F.1
Towbin, J.A.2
Craigen, W.J.3
-
3
-
-
39049156470
-
Prevalence of mitochondrial DNA disease in adults
-
Schaefer AM, McFarland R, Blakely EL et al: Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008; 63: 35-39.
-
(2008)
Ann Neurol
, vol.63
, pp. 35-39
-
-
Schaefer, A.M.1
McFarland, R.2
Blakely, E.L.3
-
4
-
-
17744393686
-
Mitochondrial DNA mutations in human disease
-
Taylor RW, Turnbull DM: Mitochondrial DNA mutations in human disease. Nat Rev Genet 2005; 6: 389-402.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 389-402
-
-
Taylor, R.W.1
Turnbull, D.M.2
-
5
-
-
84869397441
-
Human mitochondrial DNA: Roles of inherited and somatic mutations
-
Schon EA, DiMauro S, Hirano M: Human mitochondrial DNA: roles of inherited and somatic mutations. Nat Rev Genet 2012; 13: 878-890.
-
(2012)
Nat Rev Genet
, vol.13
, pp. 878-890
-
-
Schon, E.A.1
Dimauro, S.2
Hirano, M.3
-
7
-
-
0036078149
-
Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: Clinical implications
-
Poulton J, Marchington DR: Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications. Reproduction 2002; 123: 751-755.
-
(2002)
Reproduction
, vol.123
, pp. 751-755
-
-
Poulton, J.1
Marchington, D.R.2
-
8
-
-
38649091334
-
A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes
-
Cree LM, Samuels DC, de Sousa Lopes SC et al: A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes. Nat Genet 2008; 40: 249-254.
-
(2008)
Nat Genet
, vol.40
, pp. 249-254
-
-
Cree, L.M.1
Samuels, D.C.2
De Sousa Lopes, S.C.3
-
9
-
-
33745267746
-
Mosaicism for mitochondrial DNA polymorphic variants in placenta has implications for the feasibility of prenatal diagnosis in mtDNA diseases
-
Marchington DR, Scott-Brown M, Barlow DH, Poulton J: Mosaicism for mitochondrial DNA polymorphic variants in placenta has implications for the feasibility of prenatal diagnosis in mtDNA diseases. Eur J Hum Genet 2006; 14: 816-823.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 816-823
-
-
Marchington, D.R.1
Scott-Brown, M.2
Barlow, D.H.3
Poulton, J.4
-
10
-
-
33847619374
-
MtDNA point mutations are present at various levels of heteroplasmy in human oocytes
-
Jacobs L, Gerards M, Chinnery P et al: mtDNA point mutations are present at various levels of heteroplasmy in human oocytes. Mol Hum Reprod 2007; 13: 149-154.
-
(2007)
Mol Hum Reprod
, vol.13
, pp. 149-154
-
-
Jacobs, L.1
Gerards, M.2
Chinnery, P.3
-
11
-
-
79961211249
-
The implications of mitochondrial DNA copy number regulation during embryogenesis
-
Carling PJ, Cree LM, Chinnery PF: The implications of mitochondrial DNA copy number regulation during embryogenesis. Mitochondrion 2011; 11: 686-692.
-
(2011)
Mitochondrion
, vol.11
, pp. 686-692
-
-
Carling, P.J.1
Cree, L.M.2
Chinnery, P.F.3
-
12
-
-
84864781498
-
Amniocentesis and Chorionic Villus Sampling
-
June
-
Royal College of Obstetrics and Gynaecologists. Amniocentesis and Chorionic Villus Sampling. Green-top Guideline No. 8 June 2010.
-
(2010)
Green-top Guideline No. 8
-
-
-
13
-
-
70450265704
-
Preimplantation genetic diagnosis for mitochondrial DNA disorders: Ethical guidance for clinical practice
-
Bredenoord A, Dondorp W, Pennings G et al: Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice. Eur J Hum Genet 2009; 17: 1550-1559.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1550-1559
-
-
Bredenoord, A.1
Dondorp, W.2
Pennings, G.3
-
14
-
-
0141504960
-
Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases
-
Dean NL, Battersby BJ, Ao A, Gosden RG, LinTan S, Shoubridge EA: Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases. Mol Hum Reprod 2003; 9: 631-638.
-
(2003)
Mol Hum Reprod
, vol.9
, pp. 631-638
-
-
Dean, N.L.1
Battersby, B.J.2
Ao, A.3
Gosden, R.G.4
Lintan, S.5
Shoubridge, E.A.6
-
15
-
-
20844435966
-
Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation
-
Jacobs LJ, de Coo IF, Nijland JG et al: Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation. Mol Hum Reprod 2005; 11: 223-228.
-
(2005)
Mol Hum Reprod
, vol.11
, pp. 223-228
-
-
Jacobs, L.J.1
De Coo, I.F.2
Nijland, J.G.3
-
16
-
-
0034949930
-
Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
-
Thorburn DR, Dahl HH: Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. Am J Med Genet 2001; 106: 102-114.
-
(2001)
Am J Med Genet
, vol.106
, pp. 102-114
-
-
Thorburn, D.R.1
Dahl, H.H.2
-
17
-
-
0032540905
-
A sequencing method based on real-time pyrophosphate
-
Ronaghi M, Uhlen M, Nyren P: A sequencing method based on real-time pyrophosphate. Science 1998; 281: 363-365.
-
(1998)
Science
, vol.281
, pp. 363-365
-
-
Ronaghi, M.1
Uhlen, M.2
Nyren, P.3
-
18
-
-
77958152228
-
A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle
-
Alston CL, Lowe J, Turnbull DM, Maddison P, Taylor RW: A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle. J Neurol Sci 2010; 298: 140-144.
-
(2010)
J Neurol Sci
, vol.298
, pp. 140-144
-
-
Alston, C.L.1
Lowe, J.2
Turnbull, D.M.3
Maddison, P.4
Taylor, R.W.5
-
19
-
-
81455154574
-
Maternally-inherited mitochondrial DNA disease in consanguineous families
-
Alston CL, He L, Morris AA et al: Maternally-inherited mitochondrial DNA disease in consanguineous families. Eur J Hum Genet 2011; 19: 1226-1229.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 1226-1229
-
-
Alston, C.L.1
He, L.2
Morris, A.A.3
-
20
-
-
84872841151
-
Early-onset cataracts, spastic paraparesis, and ataxia due to a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex i deficiency: A clinical, molecular and neuropathological study
-
Lax NZ, Gnanapavan S, Dowson SJ et al: Early-onset cataracts, spastic paraparesis, and ataxia due to a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular and neuropathological study. J Neuropath Exp Neurol 2013; 72: 164-175.
-
(2013)
J Neuropath Exp Neurol
, vol.72
, pp. 164-175
-
-
Lax, N.Z.1
Gnanapavan, S.2
Dowson, S.J.3
-
21
-
-
84881593598
-
Pathogenic mitochondrial tRNA point mutations: Nine novel mutations affirm their importance as a cause of mitochondrial disease
-
Blakely EL, Yarham JW, Alston CL et al: Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease. Hum Mutat 2013; 34: 1260-1268.
-
(2013)
Hum Mutat
, vol.34
, pp. 1260-1268
-
-
Blakely, E.L.1
Yarham, J.W.2
Alston, C.L.3
-
22
-
-
17644430291
-
Mitochondrial DNA deletion in 'identical' twin brothers
-
Blakely EL, He L, Taylor RW et al: Mitochondrial DNA deletion in 'identical' twin brothers. J Med Genet 2004; 41: e19.
-
(2004)
J Med Genet
, vol.41
, pp. e19
-
-
Blakely, E.L.1
He, L.2
Taylor, R.W.3
-
23
-
-
17044456392
-
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR
-
He L, Chinnery PF, Durham SE et al: Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res 2002; 30: e68.
-
(2002)
Nucleic Acids Res
, vol.30
, pp. e68
-
-
He, L.1
Chinnery, P.F.2
Durham, S.E.3
-
24
-
-
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. Am J Hum Genet 1999; 65: 474-482.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 474-482
-
-
White, S.L.1
Collins, V.R.2
Wolfe, R.3
-
25
-
-
0031965039
-
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene
-
Dionisi-Vici C, Seneca S, Zeviani M et al: Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. J Inherit Metab Dis 1998; 21: 2-8.
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 2-8
-
-
Dionisi-Vici, C.1
Seneca, S.2
Zeviani, M.3
-
26
-
-
0030820191
-
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA
-
Campos Y, Martín MA, Rubio JC et al: Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. Neurology 1997; 49: 595-597.
-
(1997)
Neurology
, vol.49
, pp. 595-597
-
-
Campos, Y.1
Martín, M.A.2
Rubio, J.C.3
-
27
-
-
77951576524
-
Information for genetic management of mtDNA disease: Sampling pathogenic mtDNA mutants in the human germline and in placenta
-
Marchington D, Malik S, Banerjee A et al: Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta. J Med Genet 2010; 47: 257-261.
-
(2010)
J Med Genet
, vol.47
, pp. 257-261
-
-
Marchington, D.1
Malik, S.2
Banerjee, A.3
-
28
-
-
33645124221
-
Analysis of mtDNA variant segregation during early human embryonic development: A tool for successful NARP preimplantation diagnosis
-
Steffann J, Frydman N, Gigarel N et al: Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis. J Med Genet 2006; 43: 244-247.
-
(2006)
J Med Genet
, vol.43
, pp. 244-247
-
-
Steffann, J.1
Frydman, N.2
Gigarel, N.3
-
29
-
-
33646874604
-
Transmission of mitochondrial DNA disorders: Possibilities for the future
-
Brown DT, Herbert M, Lamb VK et al: Transmission of mitochondrial DNA disorders: possibilities for the future. Lancet 2006; 368: 87-89.
-
(2006)
Lancet
, vol.368
, pp. 87-89
-
-
Brown, D.T.1
Herbert, M.2
Lamb, V.K.3
-
30
-
-
0034255870
-
74th ENMC International Workshop: Mitochondrial diseases
-
Poulton J, Turnbull DM: 74th ENMC International Workshop: mitochondrial diseases. Neuromuscul Disord 2000; 10: 460-462.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 460-462
-
-
Poulton, J.1
Turnbull, D.M.2
-
32
-
-
77952096877
-
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
-
Craven L, Tuppen HA, Greggains GD et al: Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature 2010; 465: 82-85.
-
(2010)
Nature
, vol.465
, pp. 82-85
-
-
Craven, L.1
Tuppen, H.A.2
Greggains, G.D.3
-
33
-
-
84878838747
-
Human embryonic stem cells derived by somatic cell nuclear transfer
-
Tachibana M, Amato P, Sparman M et al: Human embryonic stem cells derived by somatic cell nuclear transfer. Cell 2013; 153: 1-11.
-
(2013)
Cell
, vol.153
, pp. 1-11
-
-
Tachibana, M.1
Amato, P.2
Sparman, M.3
-
34
-
-
84873088209
-
Towards germline gene therapy of inherited mitochondrial diseases
-
Tachibana M, Amato P, Sparman M et al: Towards germline gene therapy of inherited mitochondrial diseases. Nature, 493: 627-631.
-
Nature
, vol.493
, pp. 627-631
-
-
Tachibana, M.1
Amato, P.2
Sparman, M.3
-
35
-
-
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. Nat Genet 1999; 23: 147.
-
(1999)
Nat Genet
, vol.23
, pp. 147
-
-
Andrews, R.M.1
Kubacka, I.2
Chinnery, P.F.3
|