-
1
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003;348:2656-68.
-
(2003)
N Engl J Med
, vol.348
, pp. 2656-2668
-
-
DiMauro, S.1
Schon, E.A.2
-
2
-
-
4944260285
-
Mitochondrial disorders
-
Zeviani M, Di Donato. S. Mitochondrial disorders. Brain 2004;127:2153-72.
-
(2004)
Brain
, vol.127
, pp. 2153-2172
-
-
Zeviani, M.1
Di Donato, S.2
-
3
-
-
0034730598
-
High direct estimate of the mutation rate in the mitochondrial genome of Caenorhabditis elegans
-
Denver DR, Morris K, Lynch M, Vassilieva LL, Thomas WK. High direct estimate of the mutation rate in the mitochondrial genome of Caenorhabditis elegans. Science 2000;289:2342-4.
-
(2000)
Science
, vol.289
, pp. 2342-2344
-
-
Denver, D.R.1
Morris, K.2
Lynch, M.3
Vassilieva, L.L.4
Thomas, W.K.5
-
4
-
-
0030468182
-
Classification of European mtDNAs from an analysis of three European populations
-
Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, Savontaus ML, Wallace DC. Classification of European mtDNAs from an analysis of three European populations. Genetics 1996;144:1835-50.
-
(1996)
Genetics
, vol.144
, pp. 1835-1850
-
-
Torroni, A.1
Huoponen, K.2
Francalacci, P.3
Petrozzi, M.4
Morelli, L.5
Scozzari, R.6
Obinu, D.7
Savontaus, M.L.8
Wallace, D.C.9
-
5
-
-
0029997198
-
Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II
-
Ivanov PL, Wadhams MJ, Roby RK, Holland MM, Weedn VW, Parsons TJ. Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II. Nat Genet 1996;12:417-20.
-
(1996)
Nat Genet
, vol.12
, pp. 417-420
-
-
Ivanov, P.L.1
Wadhams, M.J.2
Roby, R.K.3
Holland, M.M.4
Weedn, V.W.5
Parsons, T.J.6
-
6
-
-
0029763025
-
Respiratory chain encephalomyopathies: A diagnostic classification
-
Walker UA, Collins S, Byrne E. Respiratory chain encephalomyopathies: a diagnostic classification. Eur Neurol 1996;36:260-7.
-
(1996)
Eur Neurol
, vol.36
, pp. 260-267
-
-
Walker, U.A.1
Collins, S.2
Byrne, E.3
-
7
-
-
0034951327
-
Mitochondrial DNA mutations in human disease
-
DiMauro S, Schon EA. Mitochondrial DNA mutations in human disease. Am J Med Genet 2001;106:18-26.
-
(2001)
Am J Med Genet
, vol.106
, pp. 18-26
-
-
Dimauro, S.1
Schon, E.A.2
-
8
-
-
7444244924
-
Assigning pathogenicity to mitochondrial tRNA mutations: When "definitely maybe" is not good enough
-
McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM. Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough. Trends Genet 2004;20:591-6.
-
(2004)
Trends Genet
, vol.20
, pp. 591-596
-
-
McFarland, R.1
Elson, J.L.2
Taylor, R.W.3
Howell, N.4
Turnbull, D.M.5
-
9
-
-
13444256467
-
MITOMAP: A human mitochondrial genome database - 2004 update
-
Brandon MC, Lott MT, Nguyen KC, Spolim S, Navathe SB, Baldi P, Wallace DC. MITOMAP: a human mitochondrial genome database - 2004 update. Nucl Acid Res 2005;33(Database Issue):D611-13.
-
(2005)
Nucl Acid Res
, vol.33
, Issue.DATABASE ISSUE
-
-
Brandon, M.C.1
Lott, M.T.2
Nguyen, K.C.3
Spolim, S.4
Navathe, S.B.5
Baldi, P.6
Wallace, D.C.7
-
10
-
-
4744344532
-
Mutations of the mitochondrial ND1 gene as a cause of MELAS
-
Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW. Mutations of the mitochondrial ND1 gene as a cause of MELAS. J Med Genet 2004;41:784-9.
-
(2004)
J Med Genet
, vol.41
, pp. 784-789
-
-
Kirby, D.M.1
McFarland, R.2
Ohtake, A.3
Dunning, C.4
Ryan, M.T.5
Wilson, C.6
Ketteridge, D.7
Turnbull, D.M.8
Thorburn, D.R.9
Taylor, R.W.10
-
11
-
-
0026409298
-
Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form
-
Schagger H, von Jagow G. Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form. Anal Biochem 1991;199:223-31.
-
(1991)
Anal Biochem
, vol.199
, pp. 223-231
-
-
Schagger, H.1
Von Jagow, G.2
-
12
-
-
0030060823
-
Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia
-
Jun AS, Trounce IA, Brown MD, Shoffner JM, Wallace DC. Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. Mol Cell Biol 1996;16:771-7.
-
(1996)
Mol Cell Biol
, vol.16
, pp. 771-777
-
-
Jun, A.S.1
Trounce, I.A.2
Brown, M.D.3
Shoffner, J.M.4
Wallace, D.C.5
-
13
-
-
0032875219
-
The impact of biochemical methods for single muscle fibre analysis
-
Pette D, Peuker H, Staron RS. The impact of biochemical methods for single muscle fibre analysis. Acta Physiol Scand 1999;166:261-77.
-
(1999)
Acta Physiol Scand
, vol.166
, pp. 261-277
-
-
Pette, D.1
Peuker, H.2
Staron, R.S.3
-
14
-
-
2342620627
-
Mitochondrial genome single nucleotide polymorphisms and their phenotypes in the Japanese
-
Tanaka M, Takeyasu T, Fuku N, Li-Jun G, Kurata M. Mitochondrial genome single nucleotide polymorphisms and their phenotypes in the Japanese. Ann NY Acad Sci 2004;1011:7-20.
-
(2004)
Ann NY Acad Sci
, vol.1011
, pp. 7-20
-
-
Tanaka, M.1
Takeyasu, T.2
Fuku, N.3
Li-Jun, G.4
Kurata, M.5
-
15
-
-
32944457620
-
-
MitoKor database: www.mitokor.com/science/mtdnas.php.
-
MitoKor Database
-
-
-
16
-
-
18344366125
-
Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups
-
Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N. Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet 2002;70:1152-71.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1152-1171
-
-
Herrnstadt, C.1
Elson, J.L.2
Fahy, E.3
Preston, G.4
Turnbull, D.M.5
Anderson, C.6
Ghosh, S.S.7
Olefsky, J.M.8
Beal, M.F.9
Davis, R.E.10
Howell, N.11
-
17
-
-
0037158599
-
Paternal inheritance of mitochondrial DNA
-
Schwartz M, Vissing J. Paternal inheritance of mitochondrial DNA. N Engl J Med 2002;347:576-80.
-
(2002)
N Engl J Med
, vol.347
, pp. 576-580
-
-
Schwartz, M.1
Vissing, J.2
-
18
-
-
0028945657
-
Leber's hereditary optic neuropathy: The clinical relevance of different mitochondrial DNA mutations
-
Riordan-Eva P, Harding AE. Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J Med Genet 1995;32:81-7.
-
(1995)
J Med Genet
, vol.32
, pp. 81-87
-
-
Riordan-Eva, P.1
Harding, A.E.2
-
19
-
-
0037322524
-
The epidemiology of Leber hereditary optic neuropathy in the North East of England
-
Man PY, Griffiths PG, Brown DT, Howell N, Turnbull DM, Chinnery PF. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet 2003;72:333-9.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 333-339
-
-
Man, P.Y.1
Griffiths, P.G.2
Brown, D.T.3
Howell, N.4
Turnbull, D.M.5
Chinnery, P.F.6
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