-
1
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457-465
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
de Bruijn, M.H.4
Coulson, A.R.5
Drouin, J.6
Eperon, I.C.7
Nierlich, D.P.8
Roe, B.A.9
Sanger, F.10
Schreier, P.H.11
Smith, A.J.12
Staden, R.13
Young, I.G.14
-
2
-
-
0032868141
-
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
-
Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147
-
(1999)
Nat. Genet.
, vol.23
, pp. 147
-
-
Andrews, R.M.1
Kubacka, I.2
Chinnery, P.F.3
Lightowlers, R.N.4
Turnbull, D.M.5
Howell, N.6
-
3
-
-
0032837964
-
Leber's hereditary optic neuropathy: Clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene
-
Besch D, Leo-Kottler B, Zrenner E, Wissinger B (1999) Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene. Graefe's Arch Clin Exp Ophthalmol 237:745-752
-
(1999)
Graefe's Arch. Clin. Exp. Ophthalmol.
, vol.237
, pp. 745-752
-
-
Besch, D.1
Leo-Kottler, B.2
Zrenner, E.3
Wissinger, B.4
-
5
-
-
0035182136
-
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
-
Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J, Applegarth DA, Turnbull DM, Howell N (2001) The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy, Brain 124:209-218
-
(2001)
Brain
, vol.124
, pp. 209-218
-
-
Chinnery, P.F.1
Brown, D.T.2
Andrews, R.M.3
Singh-Kler, R.4
Riordan-Eva, P.5
Lindley, J.6
Applegarth, D.A.7
Turnbull, D.M.8
Howell, N.9
-
6
-
-
0029967483
-
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
-
De Vries DD, Went LN, Bruyn GW, Scholte HR, Hofstra RM, Bolhuis PA, van Oost BA (1996) Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 58:703-711
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 703-711
-
-
De Vries, D.D.1
Went, L.N.2
Bruyn, G.W.3
Scholte, H.R.4
Hofstra, R.M.5
Bolhuis, P.A.6
van Oost, B.A.7
-
7
-
-
0035038050
-
Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population
-
Dogulu CF, Kansu T, Seyrantepe V, Ozguc M, Topaloglu H, Johns DR (2001) Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population. Eye 15:183-188
-
(2001)
Eye
, vol.15
, pp. 183-188
-
-
Dogulu, C.F.1
Kansu, T.2
Seyrantepe, V.3
Ozguc, M.4
Topaloglu, H.5
Johns, D.R.6
-
8
-
-
0027932137
-
Mitochondrial gene mutations and human diseases: A prolegomenon
-
Howell N (1994) Mitochondrial gene mutations and human diseases: a prolegomenon. Am J Hum Genet 55:219-224
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 219-224
-
-
Howell, N.1
-
9
-
-
0031893037
-
mtDNA mutations that cause optic neuropathy: How do we know?
-
Howell N, Bogolin C, Jamieson R, Marenda DR, Mackey DA (1998) mtDNA mutations that cause optic neuropathy: how do we know? Am J Hum Genet 62:196-202
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 196-202
-
-
Howell, N.1
Bogolin, C.2
Jamieson, R.3
Marenda, D.R.4
Mackey, D.A.5
-
10
-
-
0025910614
-
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
-
Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML (1991) A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 48:1147-1153
-
(1991)
Am. J. Hum. Genet.
, vol.48
, pp. 1147-1153
-
-
Huoponen, K.1
Vilkki, J.2
Aula, P.3
Nikoskelainen, E.K.4
Savontaus, M.L.5
-
11
-
-
0026757115
-
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
-
Johns DR, Neufeld MJ, Park RD (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 187:1551-1557
-
(1992)
Biochem. Biophys. Res. Commun.
, vol.187
, pp. 1551-1557
-
-
Johns, D.R.1
Neufeld, M.J.2
Park, R.D.3
-
12
-
-
0028342847
-
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
-
Jun AS, Brown MD, Wallace DC (1994) A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 91:6206-6210
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 6206-6210
-
-
Jun, A.S.1
Brown, M.D.2
Wallace, D.C.3
-
13
-
-
0031840929
-
MITOMAP: A human mitochondrial genome database - 1998 update
-
Kogelnik AM, Lott MT, Brown MD, Navathe SB, Wallace DC (1998) MITOMAP: a human mitochondrial genome database - 1998 update. Nucleic Acids Res 26:112-115
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 112-115
-
-
Kogelnik, A.M.1
Lott, M.T.2
Brown, M.D.3
Navathe, S.B.4
Wallace, D.C.5
-
14
-
-
0030183793
-
Leber's hereditary optic neuropathy: Clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene
-
Leo-Kottler B, Christ-Adler M, Baumann B, Zrenner E, Wissinger B (1996) Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene. Ger J Ophthalmol. 5:233-240
-
(1996)
Ger. J. Ophthalmol.
, vol.5
, pp. 233-240
-
-
Leo-Kottler, B.1
Christ-Adler, M.2
Baumann, B.3
Zrenner, E.4
Wissinger, B.5
-
15
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
16
-
-
0028949749
-
The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
-
Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE (1995) The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118:319-337
-
(1995)
Brain
, vol.118
, pp. 319-337
-
-
Riordan-Eva, P.1
Sanders, M.D.2
Govan, G.G.3
Sweeney, M.G.4
Da Costa, J.5
Harding, A.E.6
-
17
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242:1427-1430
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.A.4
Schurr, T.G.5
Lezza, A.M.6
Elsas L.J. II7
Nikoskelainen, E.K.8
|