-
3
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
S. DiMauro E.A. Schon Mitochondrial respiratory-chain diseases N Engl J Med 348 2003 2656-2668
-
(2003)
N. Engl. J. Med.
, vol.348
, pp. 2656-2668
-
-
DiMauro, S.1
Schon, E.A.2
-
4
-
-
0034951326
-
Clinical spectrum and diagnosis of mitochondrial disorders
-
A. Munnich P. Rustin Clinical spectrum and diagnosis of mitochondrial disorders Am J Med Genet 106 2001 4-17
-
(2001)
Am. J. Med. Genet.
, vol.106
, pp. 4-17
-
-
Munnich, A.1
Rustin, P.2
-
6
-
-
0035182136
-
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
-
P.F. Chinnery D.T. Brown R.M. Andrews et al. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy Brain 124 2001 209-218
-
(2001)
Brain
, vol.124
, pp. 209-218
-
-
Chinnery, P.F.1
Brown, D.T.2
Andrews, R.M.3
-
8
-
-
0033967568
-
Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
-
J.L. Loeffen J.A. Smeitink J.M. Trijbels et al. Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects Hum Mutat 15 2000 123-134
-
(2000)
Hum. Mutat.
, vol.15
, pp. 123-134
-
-
Loeffen, J.L.1
Smeitink, J.A.2
Trijbels, J.M.3
-
9
-
-
1642382090
-
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency
-
C. Ugalde R. Janssen L.P. van den Heuvel J.A.M. Smeitink L.G.J. Nijtmans Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency Hum Mol Genet 13 2004 659-667
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 659-667
-
-
Ugalde, C.1
Janssen, R.2
van den Heuvel, L.P.3
Smeitink, J.A.M.4
Nijtmans, L.G.J.5
-
10
-
-
9144221957
-
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome
-
P. Bénit A. Slama F. Cartault et al. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome J Med Genet 41 2004 14-17
-
(2004)
J. Med. Genet.
, vol.41
, pp. 14-17
-
-
Bénit, P.1
Slama, A.2
Cartault, F.3
-
11
-
-
9144222664
-
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency
-
R. McFarland D.M. Kirby K.J. Fowler et al. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency Ann Neurol 55 2004 58-64
-
(2004)
Ann. Neurol.
, vol.55
, pp. 58-64
-
-
McFarland, R.1
Kirby, D.M.2
Fowler, K.J.3
-
12
-
-
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 defiency
-
M. Chol S. Lebon P. Benit et al. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I defiency J Med Genet 40 2003 188-191
-
(2003)
J. Med. Genet.
, vol.40
, pp. 188-191
-
-
Chol, M.1
Lebon, S.2
Benit, P.3
-
13
-
-
9144223005
-
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency
-
S. Lebon M. Chol P. Bénit et al. Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency J Med Genet 40 2003 896-899
-
(2003)
J. Med. Genet.
, vol.40
, pp. 896-899
-
-
Lebon, S.1
Chol, M.2
Bénit, P.3
-
14
-
-
0018348464
-
Length-independent separation of DNA restriction fragments in two-dimensional gel electrophoresis
-
S.G. Fischer L.S. Lerman Length-independent separation of DNA restriction fragments in two-dimensional gel electrophoresis Cell 16 1979 191-200
-
(1979)
Cell
, vol.16
, pp. 191-200
-
-
Fischer, S.G.1
Lerman, L.S.2
-
15
-
-
0001430252
-
DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: Correspondence with melting theory
-
S.G. Fischer L.S. Lerman DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: Correspondence with melting theory Proc Natl Acad Sci 80 1983 1579-1583
-
(1983)
Proc. Natl. Acad. Sci.
, vol.80
, pp. 1579-1583
-
-
Fischer, S.G.1
Lerman, L.S.2
-
16
-
-
0022422655
-
Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis
-
R.M. Myers S.G. Fischer T. Maniatis Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis Nucleic Acids Res 13 1985 3131-3145
-
(1985)
Nucleic Acids Res.
, vol.13
, pp. 3131-3145
-
-
Myers, R.M.1
Fischer, S.G.2
Maniatis, T.3
-
17
-
-
0028329061
-
Mutation detection by denaturing gradient gel electrophoresis (DGGE)
-
R. Fodde M. Losekoot Mutation detection by denaturing gradient gel electrophoresis (DGGE) Hum Mutat 3 1994 83-94
-
(1994)
Hum. Mutat.
, vol.3
, pp. 83-94
-
-
Fodde, R.1
Losekoot, M.2
-
18
-
-
0032528968
-
Mutational scanning of mitochondrial DNA by two-dimensional electrophoresis
-
N.J. van Orsouw X. Zhang J.Y. Wei D.R. Johns J. Vijg Mutational scanning of mitochondrial DNA by two-dimensional electrophoresis Genomics 52 1998 27-36
-
(1998)
Genomics
, vol.52
, pp. 27-36
-
-
van Orsouw, N.J.1
Zhang, X.2
Wei, J.Y.3
Johns, D.R.4
Vijg, J.5
-
19
-
-
0019423856
-
Sequence and organization of the human mitochondrial DNA
-
S. Anderson A.T. Bankier B.G. Barrell et al. Sequence and organization of the human mitochondrial DNA Nature 290 1981 457-465
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
-
20
-
-
0032868141
-
Reanalysis and revision of the Cambridge reference sequence
-
R.M. Andrews I. Kubacka P.T. Chinnery et al. Reanalysis and revision of the Cambridge reference sequence Nat Genet 23 1999 147
-
(1999)
Nat. Genet.
, vol.23
, pp. 147
-
-
Andrews, R.M.1
Kubacka, I.2
Chinnery, P.T.3
-
21
-
-
0028928397
-
Phylogenetic analysis of the mitochondrial genomes from Leber's hereditary optic neuropathy pedigrees
-
N. Howell I. Kubacka S. Halvorson et al. Phylogenetic analysis of the mitochondrial genomes from Leber's hereditary optic neuropathy pedigrees Genetics 140 1995 285-302
-
(1995)
Genetics
, vol.140
, pp. 285-302
-
-
Howell, N.1
Kubacka, I.2
Halvorson, S.3
-
22
-
-
16944363113
-
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber's Hereditary Optic Neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
-
A. Torroni M. Petrozzi L. D'Urbano et al. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber's Hereditary Optic Neuropathy by increasing the penetrance of the primary mutations 11778 and 14484 Am J Hum Genet 60 1997 1107-1121
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 1107-1121
-
-
Torroni, A.1
Petrozzi, M.2
D'Urbano, L.3
-
23
-
-
0036947414
-
Asian specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy
-
H. Sudoyo H. Suryadi P. Lertrit et al. Asian specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy J Hum Genet 47 2002 594-604
-
(2002)
J. Hum. Genet.
, vol.47
, pp. 594-604
-
-
Sudoyo, H.1
Suryadi, H.2
Lertrit, P.3
-
24
-
-
0035866352
-
Detection of mitochondrial DNA mutations in pancreatic cancer offers a 'mass'-ive advantage over detection of nuclear DNA mutations
-
J.B. Jones J.J. Song P.A. Hempen et al. Detection of mitochondrial DNA mutations in pancreatic cancer offers a 'mass'-ive advantage over detection of nuclear DNA mutations Cancer Res 61 2001 1299-1304
-
(2001)
Cancer Res.
, vol.61
, pp. 1299-1304
-
-
Jones, J.B.1
Song, J.J.2
Hempen, P.A.3
-
26
-
-
0033515903
-
A mitochondrial DNA mutation co segregates with the pathophysiological U wave
-
R. Matsuoka M. Furutani J.I. Hayashi et al. A mitochondrial DNA mutation co segregates with the pathophysiological U wave Biochem Biophys Res Commun 257 1999 228-233
-
(1999)
Biochem. Biophys. Res. Commun.
, vol.257
, pp. 228-233
-
-
Matsuoka, R.1
Furutani, M.2
Hayashi, J.I.3
-
27
-
-
0033429173
-
Pathogenicity of homoplasmic mitochondrial DNA mutation and nuclear gene involvement
-
M. Odawara H. Maki N. Yamada Pathogenicity of homoplasmic mitochondrial DNA mutation and nuclear gene involvement J Med Genet 36 1999 934-935
-
(1999)
J. Med. Genet.
, vol.36
, pp. 934-935
-
-
Odawara, M.1
Maki, H.2
Yamada, N.3
-
28
-
-
0035286427
-
Homoplasmic 3316G-A in the ND1 gene of the mitochondrial genome: A pathogenic mutation or a neutral polymorphism?
-
[electronic letter]
-
C.W. Lam T. Yang M.W. Tsang C.P. Pang Homoplasmic 3316G-A in the ND1 gene of the mitochondrial genome: A pathogenic mutation or a neutral polymorphism? J Med Genet 38 e10 2001 [electronic letter]
-
(2001)
J. Med. Genet.
, vol.38
-
-
Lam, C.W.1
Yang, T.2
Tsang, M.W.3
Pang, C.P.4
-
29
-
-
0028088717
-
Mitochondrial DNA polymorphism in disease: A possible contributor to respiratory dysfunction
-
P. Lertrit R.M.I. Kapsa M.L.B. Jean Francois et al. Mitochondrial DNA polymorphism in disease: A possible contributor to respiratory dysfunction Hum Mol Genet 3 1994 1973-1981
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1973-1981
-
-
Lertrit, P.1
Kapsa, R.M.I.2
Jean Francois, M.L.B.3
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