-
1
-
-
0019423856
-
Sequence and organisation of the human mitochondrial genome
-
Anderson A., Bankier A.T., Barrel B.G., de Bruijn M.H.L., Coulson A.R., Drouin J., Eperon I.C., Nierlich D.P., Roe B.A., Sanger F., Schrier P.H., Smith A.J.H., Staden R., and Young I.G. Sequence and organisation of the human mitochondrial genome. Nature 290 (1981) 457-465
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, A.1
Bankier, A.T.2
Barrel, B.G.3
de Bruijn, M.H.L.4
Coulson, A.R.5
Drouin, J.6
Eperon, I.C.7
Nierlich, D.P.8
Roe, B.A.9
Sanger, F.10
Schrier, P.H.11
Smith, A.J.H.12
Staden, R.13
Young, I.G.14
-
2
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfh1,a putative homolog of frataxin
-
Babcock M., de Silva D., Oaks R., Davis-Kaplan S., Jiralerspong S., Montermini L., Pandolfo M., and Kaplan J. Regulation of mitochondrial iron accumulation by Yfh1,a putative homolog of frataxin. Science 276 (1997) 1709-1712
-
(1997)
Science
, vol.276
, pp. 1709-1712
-
-
Babcock, M.1
de Silva, D.2
Oaks, R.3
Davis-Kaplan, S.4
Jiralerspong, S.5
Montermini, L.6
Pandolfo, M.7
Kaplan, J.8
-
3
-
-
0033957174
-
Clinical, biochemical and molecular genetic correlation in Friedreich's ataxia
-
Bradly J.L., Blake J.C., Chamberlin S., Thomas P.K., Cooper J.M., and Schapira A.H. Clinical, biochemical and molecular genetic correlation in Friedreich's ataxia. Hum. Mol. Genet. 9 (2000) 275-282
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 275-282
-
-
Bradly, J.L.1
Blake, J.C.2
Chamberlin, S.3
Thomas, P.K.4
Cooper, J.M.5
Schapira, A.H.6
-
5
-
-
13344270899
-
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V., Monermini L., Molto M.D., Pianese L., and Cossee M. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271 (1996) 1423-1427
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Monermini, L.2
Molto, M.D.3
Pianese, L.4
Cossee, M.5
-
6
-
-
0030739437
-
Evolution of the Friedreich's ataxia trinucleotide repeat expansions: founder effect and permutations
-
Cossi M., Schmitt M., Campuzano V., Reutenauer L., Moutou C., Mandel J.L., and Koenig M. Evolution of the Friedreich's ataxia trinucleotide repeat expansions: founder effect and permutations. Proc. Natl. Acad. Sci. USA 94 (1997) 7452-7457
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 7452-7457
-
-
Cossi, M.1
Schmitt, M.2
Campuzano, V.3
Reutenauer, L.4
Moutou, C.5
Mandel, J.L.6
Koenig, M.7
-
7
-
-
0029757676
-
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich's ataxia
-
Filla A., DeMichele G., Cavalcanti F., Pianese L., Monticelli A., Campanella G., and Cocozza S. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich's ataxia. Am. J. Hum. Genet. 59 (1996) 554-560
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 554-560
-
-
Filla, A.1
DeMichele, G.2
Cavalcanti, F.3
Pianese, L.4
Monticelli, A.5
Campanella, G.6
Cocozza, S.7
-
8
-
-
0017056474
-
Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia
-
Geffroy G., Barbeau A., and Breton G. Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can. J. Neurol. Sci. 3 (1976) 279-286
-
(1976)
Can. J. Neurol. Sci.
, vol.3
, pp. 279-286
-
-
Geffroy, G.1
Barbeau, A.2
Breton, G.3
-
9
-
-
26444566405
-
Frataxin interacts functionally with mitochondrial electron transport chain proteins
-
Gonzalez-Cabo P., Vazquez-Manriue R.P., Garcia-Gimeno M.A., Sanz P., and Palau F. Frataxin interacts functionally with mitochondrial electron transport chain proteins. Hum. Mol. Genet. 14 15 (2005) 2091-2098
-
(2005)
Hum. Mol. Genet.
, vol.14
, Issue.15
, pp. 2091-2098
-
-
Gonzalez-Cabo, P.1
Vazquez-Manriue, R.P.2
Garcia-Gimeno, M.A.3
Sanz, P.4
Palau, F.5
-
10
-
-
0034195218
-
Partners and pathways repairing a double-strand break
-
Haber J.E. Partners and pathways repairing a double-strand break. Trends Genet. 16 (2000) 259-264
-
(2000)
Trends Genet.
, vol.16
, pp. 259-264
-
-
Haber, J.E.1
-
11
-
-
0019782799
-
Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
-
Harding A.E. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104 (1981) 589-620
-
(1981)
Brain
, vol.104
, pp. 589-620
-
-
Harding, A.E.1
-
12
-
-
0019790761
-
Pseudo-dominant inheritance in Friedreich's ataxia
-
Harding A.E., and Zilkha K.J. Pseudo-dominant inheritance in Friedreich's ataxia. J. Med. Genet. 18 (1981) 285-287
-
(1981)
J. Med. Genet.
, vol.18
, pp. 285-287
-
-
Harding, A.E.1
Zilkha, K.J.2
-
13
-
-
0035782695
-
Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA
-
Hirano M., Marti R., Ferreiro-Barros C., Vila M.R., Tadesse S., Nishigaki Y., Nishino I., and Vu T.H. Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA. Semin. Cell Biol. Develop. 12 (2001) 417-427
-
(2001)
Semin. Cell Biol. Develop.
, vol.12
, pp. 417-427
-
-
Hirano, M.1
Marti, R.2
Ferreiro-Barros, C.3
Vila, M.R.4
Tadesse, S.5
Nishigaki, Y.6
Nishino, I.7
Vu, T.H.8
-
14
-
-
0024798264
-
Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA
-
Holt I.J., Harding A.E., Cooper J.M., Schapira A.H., Toscano A., Clark J.B., and Morgan-Hughes J.A. Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann. Neurol. 29 (1989) 699-710
-
(1989)
Ann. Neurol.
, vol.29
, pp. 699-710
-
-
Holt, I.J.1
Harding, A.E.2
Cooper, J.M.3
Schapira, A.H.4
Toscano, A.5
Clark, J.B.6
Morgan-Hughes, J.A.7
-
15
-
-
0023886170
-
DNA damage and oxygen radical toxicity
-
Imlay J.A., and Linn S. DNA damage and oxygen radical toxicity. Science 240 (1988) 1302-1309
-
(1988)
Science
, vol.240
, pp. 1302-1309
-
-
Imlay, J.A.1
Linn, S.2
-
16
-
-
0027250194
-
Late-onset Friedreich's ataxia.Molecular genetics, clinical neurophysiology, and magnetic resonance imaging
-
Klockgether T., Chamberlain S., Wullner U., Fetter M., Dittmann H., Petersen D., and Dichgans J. Late-onset Friedreich's ataxia.Molecular genetics, clinical neurophysiology, and magnetic resonance imaging. Arch. Neurol. 50 (1993) 803-806
-
(1993)
Arch. Neurol.
, vol.50
, pp. 803-806
-
-
Klockgether, T.1
Chamberlain, S.2
Wullner, U.3
Fetter, M.4
Dittmann, H.5
Petersen, D.6
Dichgans, J.7
-
17
-
-
0030859876
-
Mutation and oxidative damage of mitochondrial DNA and defective turnover of mitochondria in human aging
-
Lee H.C., and Wei Y.H. Mutation and oxidative damage of mitochondrial DNA and defective turnover of mitochondria in human aging. J. Formos. Med. Assoc. 96 (1997) 770-778
-
(1997)
J. Formos. Med. Assoc.
, vol.96
, pp. 770-778
-
-
Lee, H.C.1
Wei, Y.H.2
-
19
-
-
0025044656
-
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA
-
Mita S., Rizzuto R., Moraes C.T., Shanske S., Arnaudo E., Fabrizi G.M., Koga Y., DiMauro S., and Schon E.A. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res. 18 (1990) 561-567
-
(1990)
Nucleic Acids Res.
, vol.18
, pp. 561-567
-
-
Mita, S.1
Rizzuto, R.2
Moraes, C.T.3
Shanske, S.4
Arnaudo, E.5
Fabrizi, G.M.6
Koga, Y.7
DiMauro, S.8
Schon, E.A.9
-
20
-
-
0034962860
-
Mitochondria and degenerative disorders
-
Orth M., and Schapira A.H. Mitochondria and degenerative disorders. Am. J. Med. Genet. 106 (2001) 27-36
-
(2001)
Am. J. Med. Genet.
, vol.106
, pp. 27-36
-
-
Orth, M.1
Schapira, A.H.2
-
21
-
-
0031614996
-
Molecular genetics of the hereditary ataxias
-
Panolfo M., and Montermmi L. Molecular genetics of the hereditary ataxias. Adv. Genet. 38 (1998) 31-68
-
(1998)
Adv. Genet.
, vol.38
, pp. 31-68
-
-
Panolfo, M.1
Montermmi, L.2
-
22
-
-
0027403570
-
Families of mtDNA rearrangement can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form
-
Poulton J., Deadman M.E., Bindoff L., Morten K., Land J., and Brown G. Families of mtDNA rearrangement can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form. Hum. Mol. Genet. 2 (1993) 23-30
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 23-30
-
-
Poulton, J.1
Deadman, M.E.2
Bindoff, L.3
Morten, K.4
Land, J.5
Brown, G.6
-
23
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
-
Rotig A., de Lonlay P., Chretien D., Foury F., Koenig M., Sidi D., Munnich A., and Rustin P. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nature Genet. 17 (1997) 215-217
-
(1997)
Nature Genet.
, vol.17
, pp. 215-217
-
-
Rotig, A.1
de Lonlay, P.2
Chretien, D.3
Foury, F.4
Koenig, M.5
Sidi, D.6
Munnich, A.7
Rustin, P.8
-
24
-
-
4143081492
-
Two direct repeats cause most human mtDNA deletions
-
Samuels D.C., Schon E.A., and Chinnery P.F. Two direct repeats cause most human mtDNA deletions. Trends Genet. 20 (2004) 393-398
-
(2004)
Trends Genet.
, vol.20
, pp. 393-398
-
-
Samuels, D.C.1
Schon, E.A.2
Chinnery, P.F.3
-
25
-
-
0024596946
-
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA
-
Schon E.A., Rizzuto R., Moraes C.T., Nakase H., Zeviani M., and DiMauro S. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science 244 (1989) 346-349
-
(1989)
Science
, vol.244
, pp. 346-349
-
-
Schon, E.A.1
Rizzuto, R.2
Moraes, C.T.3
Nakase, H.4
Zeviani, M.5
DiMauro, S.6
-
26
-
-
0024317560
-
Spontaneous Kearns-Sayre/chronic progressive external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy
-
Shoffner J.M., Lott A.S., Voljavec A.S., Soueidan S.A., Costigan D.A., and Wallace D.C. Spontaneous Kearns-Sayre/chronic progressive external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy. Proc. Natl Acad. Sci. 86 (1989) 7952-7956
-
(1989)
Proc. Natl Acad. Sci.
, vol.86
, pp. 7952-7956
-
-
Shoffner, J.M.1
Lott, A.S.2
Voljavec, A.S.3
Soueidan, S.A.4
Costigan, D.A.5
Wallace, D.C.6
-
27
-
-
17344372911
-
Double-stranded breaks of mouse muscle mtDNA promote large-deletions similar to multiple mtDNA deletions in human
-
Srivastava S., and Moraes C.T. Double-stranded breaks of mouse muscle mtDNA promote large-deletions similar to multiple mtDNA deletions in human. Hum. Mol. Genet. 14 7 (2005) 893-902
-
(2005)
Hum. Mol. Genet.
, vol.14
, Issue.7
, pp. 893-902
-
-
Srivastava, S.1
Moraes, C.T.2
-
28
-
-
9744248303
-
Iron-sulfur protein maturation in human cells: evidence for a function of frataxin
-
Stehling O., Elsasser H.P., Bruckel B., Muhlenhoff U., and Lill R. Iron-sulfur protein maturation in human cells: evidence for a function of frataxin. Hum. Mol. Genet. 13 23 (2004) 3007-3015
-
(2004)
Hum. Mol. Genet.
, vol.13
, Issue.23
, pp. 3007-3015
-
-
Stehling, O.1
Elsasser, H.P.2
Bruckel, B.3
Muhlenhoff, U.4
Lill, R.5
-
29
-
-
0017405395
-
Mapping of mtDNA of individual sheep and goats: rapid evolution in the D-loop region
-
Upholt W.B., and David I.B. Mapping of mtDNA of individual sheep and goats: rapid evolution in the D-loop region. Cell 11 (1977) 571-583
-
(1977)
Cell
, vol.11
, pp. 571-583
-
-
Upholt, W.B.1
David, I.B.2
-
30
-
-
2942672611
-
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA
-
Wanrooij S., Luoma P., van Goethem G., van Broeckhoven C., Suomalainen A., and Spelbrink J.N. Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. Nucleic Acids Res. 32 (2004) 3053-3064
-
(2004)
Nucleic Acids Res.
, vol.32
, pp. 3053-3064
-
-
Wanrooij, S.1
Luoma, P.2
van Goethem, G.3
van Broeckhoven, C.4
Suomalainen, A.5
Spelbrink, J.N.6
-
31
-
-
2542505678
-
Oxidative stress and mtDNA mutations in human evolution and disease
-
Wei Y.H. Oxidative stress and mtDNA mutations in human evolution and disease. Proc. Natl Acad. Sci. 217 (1998) 53-63
-
(1998)
Proc. Natl Acad. Sci.
, vol.217
, pp. 53-63
-
-
Wei, Y.H.1
-
32
-
-
0003128167
-
Guidelines for the use of mitochondrial DNA sequencing in forensic science
-
Wilson M.R., Stoneking M., Holland M.M., DiZinno J.A., and Budowle B. Guidelines for the use of mitochondrial DNA sequencing in forensic science. Crime Lab. Digest 20 (1993) 68-77
-
(1993)
Crime Lab. Digest
, vol.20
, pp. 68-77
-
-
Wilson, M.R.1
Stoneking, M.2
Holland, M.M.3
DiZinno, J.A.4
Budowle, B.5
-
33
-
-
0025741445
-
Aging-associated 5 kb deletion in human liver mitochondrial DNA
-
Yen T.C., Su J.H., King K.L., and Wei Y.H. Aging-associated 5 kb deletion in human liver mitochondrial DNA. Biochem. Biophys. Res. 178 (1991) 124-131
-
(1991)
Biochem. Biophys. Res.
, vol.178
, pp. 124-131
-
-
Yen, T.C.1
Su, J.H.2
King, K.L.3
Wei, Y.H.4
|