-
1
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace D.C., Singh G., Lott M.T., Hodge J.A., Schurr T.G., Lezza A.M., Elsas II L.J., and Nikoskelainen E.K. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242 (1988) 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 II, L.J.7
Nikoskelainen, E.K.8
-
2
-
-
62149149553
-
-
P. Yu-Wai-Man, P.G. Griffiths, G. Hudson, Patrick Chinnery, Leber hereditary optic neuropathy, J. Med. Genet., doi: 10.1136/jmg.2007.054270.
-
P. Yu-Wai-Man, P.G. Griffiths, G. Hudson, Patrick Chinnery, Leber hereditary optic neuropathy, J. Med. Genet., doi: 10.1136/jmg.2007.054270.
-
-
-
-
3
-
-
33745870877
-
Leber's hereditary optic neuropathy: a multifactorial disease
-
Yen M.Y., Wang A.G., and Wei Y.H. Leber's hereditary optic neuropathy: a multifactorial disease. Prog. Retin. Eye Res. 25 (2006) 381-396
-
(2006)
Prog. Retin. Eye Res.
, vol.25
, pp. 381-396
-
-
Yen, M.Y.1
Wang, A.G.2
Wei, Y.H.3
-
4
-
-
0036487995
-
The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup
-
Brown M.D., Starikovskaya E., Derbeneva O., Hosseini S., Allen J.C., Mikhailovskaya I.E., Sukernik R.I., and Wallace D.C. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup. J. Hum. Genet. 110 (2002) 130-138
-
(2002)
J. Hum. Genet.
, vol.110
, pp. 130-138
-
-
Brown, M.D.1
Starikovskaya, E.2
Derbeneva, O.3
Hosseini, S.4
Allen, J.C.5
Mikhailovskaya, I.E.6
Sukernik, R.I.7
Wallace, D.C.8
-
5
-
-
0001294889
-
-
McGraw-Hill, New York
-
Wallace D.C., Lott M.T., Brown M.D., and Kerstann K. Mitochondria and Neuro-Ophthalmological Disease (2001), McGraw-Hill, New York
-
(2001)
Mitochondria and Neuro-Ophthalmological Disease
-
-
Wallace, D.C.1
Lott, M.T.2
Brown, M.D.3
Kerstann, K.4
-
6
-
-
0030806721
-
Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve
-
Howell N. Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve. Vision Res. 37 (1997) 3495-3507
-
(1997)
Vision Res.
, vol.37
, pp. 3495-3507
-
-
Howell, N.1
-
8
-
-
0029816017
-
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy
-
Mackey D.A., Oostra R.J., Rosenberg T., Nikoskelainen E., Bronte-Stewart J., Poulton J., Harding A.E., Govan G., Bolhuis P.A., Norby S., Bleeker-Wagemakers E.M., Savontaus M.L., Cahn C., and Howell N. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am. J. Hum. Genet. 59 (1996) 481-485
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 481-485
-
-
Mackey, D.A.1
Oostra, R.J.2
Rosenberg, T.3
Nikoskelainen, E.4
Bronte-Stewart, J.5
Poulton, J.6
Harding, A.E.7
Govan, G.8
Bolhuis, P.A.9
Norby, S.10
Bleeker-Wagemakers, E.M.11
Savontaus, M.L.12
Cahn, C.13
Howell, N.14
-
9
-
-
0031727235
-
Human mitochondrial diseases: answering questions and questioning answers
-
Howell N. Human mitochondrial diseases: answering questions and questioning answers. Int. Rev. Cytol. 186 (1999) 49-116
-
(1999)
Int. Rev. Cytol.
, vol.186
, pp. 49-116
-
-
Howell, N.1
-
10
-
-
33847689427
-
Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family
-
Qu J., Li R., Zhou X., Tong Y., Yang L., Chen J., Zhao F., Lu C., Qian Y., Lu F., and Guan M.X. Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family. Mitochondrion 7 (2007) 140-146
-
(2007)
Mitochondrion
, vol.7
, pp. 140-146
-
-
Qu, J.1
Li, R.2
Zhou, X.3
Tong, Y.4
Yang, L.5
Chen, J.6
Zhao, F.7
Lu, C.8
Qian, Y.9
Lu, F.10
Guan, M.X.11
-
11
-
-
39049176011
-
Rapid genetic screening of Leber's hereditary optic neuropathy with mtDNA G11778A mutation by AS-PCR with whole blood
-
Yang J., Tong Y., Li B.H., and Chen Y.K. Rapid genetic screening of Leber's hereditary optic neuropathy with mtDNA G11778A mutation by AS-PCR with whole blood. Zhonghua Yan Ke Za Zhi 41 (2005) 243-245
-
(2005)
Zhonghua Yan Ke Za Zhi
, vol.41
, pp. 243-245
-
-
Yang, J.1
Tong, Y.2
Li, B.H.3
Chen, Y.K.4
-
12
-
-
67349170686
-
Rapid genetic analysis in the diagnosis of primary Leber's hereditary optic neuropathy
-
Yang J., Tong Y., Zhu Y., Lin Y., Chen Y., and Lin J.Y. Rapid genetic analysis in the diagnosis of primary Leber's hereditary optic neuropathy. Chin. J. Ocul. Fundus. Dis. 22 (2006) 135-136
-
(2006)
Chin. J. Ocul. Fundus. Dis.
, vol.22
, pp. 135-136
-
-
Yang, J.1
Tong, Y.2
Zhu, Y.3
Lin, Y.4
Chen, Y.5
Lin, J.Y.6
-
13
-
-
0032519307
-
Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome
-
Rieder M.J., Taylor S.L., Tobe V.O., and Nickerson D.A. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Res. 26 (1998) 967-973
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 967-973
-
-
Rieder, M.J.1
Taylor, S.L.2
Tobe, V.O.3
Nickerson, D.A.4
-
14
-
-
49049096478
-
Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A
-
Wang H.W., Jia X., Ji Y., Kong Q.P., Zhang Q., Yao Y.G., and Zhang Y.P. Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A. Mutat. Res. 643 (2008) 48-53
-
(2008)
Mutat. Res.
, vol.643
, pp. 48-53
-
-
Wang, H.W.1
Jia, X.2
Ji, Y.3
Kong, Q.P.4
Zhang, Q.5
Yao, Y.G.6
Zhang, Y.P.7
-
15
-
-
67349163636
-
-
doi: 10.1016/j.mito.2009.04.003
-
J. Yang, Y. Zhu, Y. Tong, Z. Zhang, L. Chen, S. Chen, Z. Cao, C. Liu, J. Xu, X. Ma, The novel G10680A mutation is associated with complete penetrance of the LHON/T14484C family, Mitochondrion, doi: 10.1016/j.mito.2009.04.003.
-
The novel G10680A mutation is associated with complete penetrance of the LHON/T14484C family, Mitochondrion
-
-
Yang, J.1
Zhu, Y.2
Tong, Y.3
Zhang, Z.4
Chen, L.5
Chen, S.6
Cao, Z.7
Liu, C.8
Xu, J.9
Ma, X.10
-
16
-
-
0032868141
-
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
-
Andrews R.M., Kubacka I., Chinnery P.F., Lightowlers R.N., Turnbull D.M., and Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat. Genet. 23 (1999) 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
-
17
-
-
0034904756
-
Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families
-
Brown M.D., Zhadanov S., Allen J.C., Hosseini S., Newman N.J., Atamonov V.V., Mikhailovskaya I.E., Sukernik R.I., and Wallace D.C. Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families. Hum. Genet. 109 (2001) 33-39
-
(2001)
Hum. Genet.
, vol.109
, pp. 33-39
-
-
Brown, M.D.1
Zhadanov, S.2
Allen, J.C.3
Hosseini, S.4
Newman, N.J.5
Atamonov, V.V.6
Mikhailovskaya, I.E.7
Sukernik, R.I.8
Wallace, D.C.9
-
18
-
-
33846094306
-
An enhanced MITOMAP with a global mtDNA mutational phylogeny
-
www.mitomap.org
-
Ruiz-Pesini E., Lott M.T., Procaccio V., Poole J., Brandon M.C., Mishmar D., Yi C., Kreuziger J., Baldi P., and Wallace D.C. An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res. 35 (2007) D823-D828. http://www.mitomap.org www.mitomap.org
-
(2007)
Nucleic Acids Res.
, vol.35
-
-
Ruiz-Pesini, E.1
Lott, M.T.2
Procaccio, V.3
Poole, J.4
Brandon, M.C.5
Mishmar, D.6
Yi, C.7
Kreuziger, J.8
Baldi, P.9
Wallace, D.C.10
-
19
-
-
33644875533
-
mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences
-
Ingman M., and Gyllensten U. mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. Nucleic Acids Res. 34 (2006) D749-D751
-
(2006)
Nucleic Acids Res.
, vol.34
-
-
Ingman, M.1
Gyllensten, U.2
-
20
-
-
33745275886
-
Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations
-
Kong Q.P., Bandelt H.J., Sun C., Yao Y.G., Salas A., Achilli A., Wang C.Y., Zhong L., Zhu C.L., Wu S.F., Torroni A., and Zhang Y.P. Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. Hum. Mol. Genet. 15 (2006) 2076-2086
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 2076-2086
-
-
Kong, Q.P.1
Bandelt, H.J.2
Sun, C.3
Yao, Y.G.4
Salas, A.5
Achilli, A.6
Wang, C.Y.7
Zhong, L.8
Zhu, C.L.9
Wu, S.F.10
Torroni, A.11
Zhang, Y.P.12
-
21
-
-
34547796899
-
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
-
Hudson G., Carelli V., Spruijt L., Gerards M., Mowbray C., Achilli A., Pyle A., Elson J., Howell N., La Morgia C., Valentino M.L., Huoponen K., Savontaus M.L., Nikoskelainen E., Sadun A.A., Salomao S.R., Belfort R.Jr., Griffiths P., Man P.Y., de Coo R.F., Horvath R., Zeviani M., Smeets H.J., Torroni A., and Chinnery P.F. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am. J. Hum. Genet. 81 (2007) 228-233
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 228-233
-
-
Hudson, G.1
Carelli, V.2
Spruijt, L.3
Gerards, M.4
Mowbray, C.5
Achilli, A.6
Pyle, A.7
Elson, J.8
Howell, N.9
La Morgia, C.10
Valentino, M.L.11
Huoponen, K.12
Savontaus, M.L.13
Nikoskelainen, E.14
Sadun, A.A.15
Salomao, S.R.16
Belfort, R.Jr.17
Griffiths, P.18
Man, P.Y.19
de Coo, R.F.20
Horvath, R.21
Zeviani, M.22
Smeets, H.J.23
Torroni, A.24
Chinnery, P.F.25
more..
-
22
-
-
46149090812
-
T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family
-
Zhang S., Wang L., Hao Y., Wang P., Hao P., Yin K., Wang Q.K., and Liu M. T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family. Mitochondrion 8 (2008) 205-210
-
(2008)
Mitochondrion
, vol.8
, pp. 205-210
-
-
Zhang, S.1
Wang, L.2
Hao, Y.3
Wang, P.4
Hao, P.5
Yin, K.6
Wang, Q.K.7
Liu, M.8
-
23
-
-
34247092566
-
The mitochondrial tRNA(Glu) A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber's hereditary optic neuropathy
-
Tong Y., Mao Y., Zhou X., Yang L., Zhang J., Cai W., Zhao F., Wang X., Lu F., Qu J., and Guan M.X. The mitochondrial tRNA(Glu) A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber's hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 357 (2007) 524-530
-
(2007)
Biochem. Biophys. Res. Commun.
, vol.357
, pp. 524-530
-
-
Tong, Y.1
Mao, Y.2
Zhou, X.3
Yang, L.4
Zhang, J.5
Cai, W.6
Zhao, F.7
Wang, X.8
Lu, F.9
Qu, J.10
Guan, M.X.11
-
24
-
-
0028945657
-
Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations
-
Riordan-Eva P., and Harding A.E. Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J. Med. Genet. 32 (1995) 81-87
-
(1995)
J. Med. Genet.
, vol.32
, pp. 81-87
-
-
Riordan-Eva, P.1
Harding, A.E.2
-
25
-
-
0036947414
-
Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy
-
Sudoyo H., Suryadi H., Lertrit P., Pramoonjago P., Lyrawati D., and Marzuki S. 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
Pramoonjago, P.4
Lyrawati, D.5
Marzuki, S.6
-
26
-
-
0031965731
-
Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy
-
Mashima Y., Yamada K., Wakakura M., Kigasawa K., Kudoh J., Shimizu N., and Oguchi Y. Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy. Curr. Eye Res. 17 (1998) 403-408
-
(1998)
Curr. Eye Res.
, vol.17
, pp. 403-408
-
-
Mashima, Y.1
Yamada, K.2
Wakakura, M.3
Kigasawa, K.4
Kudoh, J.5
Shimizu, N.6
Oguchi, Y.7
|