-
1
-
-
84975526599
-
Late-onset Leber's hereditary optic neuropathy
-
Ajax E, Kardon R. Late-onset Leber's hereditary optic neuropathy. Journal of Neuroophthalmology 1998; 18:30-1.
-
(1998)
Journal of Neuroophthalmology
, vol.18
, pp. 30-31
-
-
Ajax, E.1
Kardon, R.2
-
2
-
-
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. Sequence and organization of the human mitochondrial genome. Nature 1981; 290:457-65.
-
(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
-
3
-
-
38549163913
-
Acute leber hereditary optic neuropathy in a 73-year-old man
-
Buchan J, Ong C, Dabbs T. Acute leber hereditary optic neuropathy in a 73-year-old man. Eye 2007; 15:1079-1089.
-
(2007)
Eye
, vol.15
, pp. 1079-1089
-
-
Buchan, J.1
Ong, C.2
Dabbs, T.3
-
4
-
-
0029969778
-
A case-control study of Leber's hereditary optic neuropathy
-
Chalmers R, Harding A. A case-control study of Leber's hereditary optic neuropathy. Brain 1996; 119:1481-6.
-
(1996)
Brain
, vol.119
, pp. 1481-1486
-
-
Chalmers, R.1
Harding, A.2
-
6
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B, Ducommun B, Kaplan J, Hamel CP. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nature Genetics 2000; 26:207-10.
-
(2000)
Nature Genetics
, vol.26
, pp. 207-210
-
-
Delettre, C.1
Lenaers, G.2
Griffoin, J.M.3
Gigarel, N.4
Lorenzo, C.5
Belenguer, P.6
Pelloquin, L.7
Grosgeorge, J.8
Turc-Carel, C.9
Perret, E.10
Astarie-Dequeker, C.11
Lasquellec, L.12
Arnaud, B.13
Ducommun, B.14
Kaplan, J.15
Hamel, C.P.16
-
8
-
-
0026558973
-
Magnetic resonance imaging findings in Leber's hereditary optic neuropathy
-
Dotti M, Caputo N, Signorini E, Federico A. Magnetic resonance imaging findings in Leber's hereditary optic neuropathy. European Neurology 1992; 32:17-19.
-
(1992)
European Neurology
, vol.32
, pp. 17-19
-
-
Dotti, M.1
Caputo, N.2
Signorini, E.3
Federico, A.4
-
9
-
-
0036648997
-
Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA
-
Falkenberg M, Gaspari M, Rantanen A, Trifunovic A, Larsson N, Gustafsson C. Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA. Nature Genetics 2002; 31:289-94.
-
(2002)
Nature Genetics
, vol.31
, pp. 289-294
-
-
Falkenberg, M.1
Gaspari, M.2
Rantanen, A.3
Trifunovic, A.4
Larsson, N.5
Gustafsson, C.6
-
10
-
-
0018170611
-
Mitochondrial inheritance and disease
-
Fine P. Mitochondrial inheritance and disease. The Lancet 1978; 2:659-62.
-
(1978)
The Lancet
, vol.2
, pp. 659-662
-
-
Fine, P.1
-
12
-
-
0025944560
-
Leber hereditary optic neuropathy: Identification of the same mitochondrial ND1 mutation in six pedigrees
-
Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, Mackey D, Taylor L, Turnbull DM. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. American Journal of Human Genetics 1991; 49:939-50.
-
(1991)
American Journal of Human Genetics
, vol.49
, pp. 939-950
-
-
Howell, N.1
Bindoff, L.A.2
McCullough, D.A.3
Kubacka, I.4
Poulton, J.5
Mackey, D.6
Taylor, L.7
Turnbull, D.M.8
-
13
-
-
0035404936
-
Leber hereditary optic neuropathy: Clinical and molecular genetic findings
-
Huoponen K. Leber hereditary optic neuropathy: clinical and molecular genetic findings. Neurogenetics 2001; 3:119-25.
-
(2001)
Neurogenetics
, vol.3
, pp. 119-125
-
-
Huoponen, K.1
-
14
-
-
33744495152
-
Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection
-
Jacobson SG, Acland GM, Aguirre GD, Aleman TS, Schwartz SB, Cideciyan AV, Zeiss CJ, Komaromy AM, Kaushal S, Roman AJ, Windsor EA, Sumaroka A, Pearce-Kelling SE, Conlon TJ, Chiodo VA, Boye SL, Flotte TR, Maguire AM, Bennett J, Hauswirth WW. Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection. Molecular Therapy 2006; 13:1074-84.
-
(2006)
Molecular Therapy
, vol.13
, pp. 1074-1084
-
-
Jacobson, S.G.1
Acland, G.M.2
Aguirre, G.D.3
Aleman, T.S.4
Schwartz, S.B.5
Cideciyan, A.V.6
Zeiss, C.J.7
Komaromy, A.M.8
Kaushal, S.9
Roman, A.J.10
Windsor, E.A.11
Sumaroka, A.12
Pearce-Kelling, S.E.13
Conlon, T.J.14
Chiodo, V.A.15
Boye, S.L.16
Flotte, T.R.17
Maguire, A.M.18
Bennett, J.19
Hauswirth, W.W.20
more..
-
15
-
-
33749057750
-
Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy
-
Jia X, Li S, Xiao X, Guo X, Zhang Q. Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy. Journal of Human Genetics 2006; 51:851-56.
-
(2006)
Journal of Human Genetics
, vol.51
, pp. 851-856
-
-
Jia, X.1
Li, S.2
Xiao, X.3
Guo, X.4
Zhang, Q.5
-
17
-
-
33644772616
-
Generation of trans-mitochondrial mice carrying homoplasmic mtDNAs with a missense mutation in a structural gene using ES cells
-
Kasahara A, Ishikawa K, Yamaoka M, Ito M, Watanabe N, Akimoto M, Sato A, Nakada K, Endo H, Suda Y, Aizawa S, Hayashi J. Generation of trans-mitochondrial mice carrying homoplasmic mtDNAs with a missense mutation in a structural gene using ES cells. Human Molecular Genetics 2006; 15:871-81.
-
(2006)
Human Molecular Genetics
, vol.15
, pp. 871-881
-
-
Kasahara, A.1
Ishikawa, K.2
Yamaoka, M.3
Ito, M.4
Watanabe, N.5
Akimoto, M.6
Sato, A.7
Nakada, K.8
Endo, H.9
Suda, Y.10
Aizawa, S.11
Hayashi, J.12
-
18
-
-
0024309441
-
Magnetic resonance imaging in Leber's optic neuropathy
-
Kermode A, Moseley I, Kendall B, Miller D, MacManus D, McDonald W. Magnetic resonance imaging in Leber's optic neuropathy. Journal of Neurology, Neurosurgery, and Psychiatry 1989; 52:671-74.
-
(1989)
Journal of Neurology, Neurosurgery, and Psychiatry
, vol.52
, pp. 671-674
-
-
Kermode, A.1
Moseley, I.2
Kendall, B.3
Miller, D.4
MacManus, D.5
McDonald, W.6
-
19
-
-
0024448458
-
Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
-
King M, Attardi G. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 1989; 246:500-03.
-
(1989)
Science
, vol.246
, pp. 500-503
-
-
King, M.1
Attardi, G.2
-
20
-
-
7244253011
-
Inner retinal contributions to the multifocal electroretinogram: Patients with Leber's hereditary optic neuropathy (LHON). Multifocal ERG in patients with LHON
-
Kurtenbach A, Leo-Kottler B, Zrenner E. Inner retinal contributions to the multifocal electroretinogram: patients with Leber's hereditary optic neuropathy (LHON). Multifocal ERG in patients with LHON. Documenta Ophthalmologica 2004; 108: 231-40.
-
(2004)
Documenta Ophthalmologica
, vol.108
, pp. 231-240
-
-
Kurtenbach, A.1
Leo-Kottler, B.2
Zrenner, E.3
-
21
-
-
34447600937
-
Ueber hereditäre und congenital-angelegte Sehnervenleiden
-
Band XVII, 2. Abtheilung
-
Leber T. Ueber hereditäre und congenital-angelegte Sehnervenleiden. Albrecth von Graefes Archiv f ür Ophthalmologie 1871; Band XVII, 2. Abtheilung: 249-91.
-
(1871)
Albrecth von Graefes Archiv f ür Ophthalmologie
, pp. 249-291
-
-
Leber, T.1
-
22
-
-
0026746739
-
A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology
-
Mackey D, Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. American Journal of Human Genetics 1992; 51:1218-28.
-
(1992)
American Journal of Human Genetics
, vol.51
, pp. 1218-1228
-
-
Mackey, D.1
Howell, N.2
-
23
-
-
0037322524
-
The epidemiology of Leber hereditary optic neuropathy in the North East of England
-
Man P, Griffiths P, Brown D, Howell N, Turnbull D, Chinnery P. The epidemiology of Leber hereditary optic neuropathy in the North East of England. American Journal of Human Genetics 2003; 72:333-9.
-
(2003)
American Journal of Human Genetics
, vol.72
, pp. 333-339
-
-
Man, P.1
Griffiths, P.2
Brown, D.3
Howell, N.4
Turnbull, D.5
Chinnery, P.6
-
24
-
-
33745864221
-
Hereditary optic neuropathies
-
N. R. Miller, N. J. Newman, V. Biousse, J. B. Kerrison ed, 6th ed, pp, Philadelphia: Lippincott Williams & Wilkins
-
Newman NJ. (2005). Hereditary optic neuropathies. In N. R. Miller, N. J. Newman, V. Biousse, J. B. Kerrison (ed), Walsh and Hoyt's Clinical Neuro-ophthalmology, 6th ed., pp. 465-501. Philadelphia: Lippincott Williams & Wilkins.
-
(2005)
Walsh and Hoyt's Clinical Neuro-ophthalmology
, pp. 465-501
-
-
Newman, N.J.1
-
25
-
-
9944238788
-
Hereditary optic neuropathies
-
Newman NJ, Biousse V. Hereditary optic neuropathies. Eye 2004; 18:1144-60.
-
(2004)
Eye
, vol.18
, pp. 1144-1160
-
-
Newman, N.J.1
Biousse, V.2
-
26
-
-
0025881563
-
The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
-
Newman NJ, Lott M, Wallace D. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. American Journal of Ophthalmology 1991; 111:750-62.
-
(1991)
American Journal of Ophthalmology
, vol.111
, pp. 750-762
-
-
Newman, N.J.1
Lott, M.2
Wallace, D.3
-
27
-
-
0021685747
-
Leber's hereditary optic neuroretinopathy, a mitochondrial disease?
-
Nikoskelainen E, Hassinen I, Paljarvi L, Lang H, Kalimo H. Leber's hereditary optic neuroretinopathy, a mitochondrial disease? The Lancet 1984a; 2:1474.
-
(1984)
The Lancet
, vol.2
, pp. 1474
-
-
Nikoskelainen, E.1
Hassinen, I.2
Paljarvi, L.3
Lang, H.4
Kalimo, H.5
-
28
-
-
0021255222
-
Fundus findings in Leber's hereditary optic neuroretinopathy. III. Fluorescein angiographic studies
-
Nikoskelainen E, Hoyt W, Nummelin K, Schatz H. Fundus findings in Leber's hereditary optic neuroretinopathy. III. Fluorescein angiographic studies. Archives of Ophthalmology 1984b; 102:981-9.
-
(1984)
Archives of Ophthalmology
, vol.102
, pp. 981-989
-
-
Nikoskelainen, E.1
Hoyt, W.2
Nummelin, K.3
Schatz, H.4
-
29
-
-
0023185081
-
Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees
-
Nikoskelainen E, Savontaus M, Wanne O, Katila M, Nummelin K. Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees. Archives of Ophthalmology 1987; 105:665-71.
-
(1987)
Archives of Ophthalmology
, vol.105
, pp. 665-671
-
-
Nikoskelainen, E.1
Savontaus, M.2
Wanne, O.3
Katila, M.4
Nummelin, K.5
-
30
-
-
33751293068
-
Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy
-
Phasukkijwatana N, Chuenkongkaew W, Suphavilai R, Luangtrakool K, Kunhapan B, Lertrit P. Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy. Journal of Human Genetics 2006; 51:1110-7.
-
(2006)
Journal of Human Genetics
, vol.51
, pp. 1110-1117
-
-
Phasukkijwatana, N.1
Chuenkongkaew, W.2
Suphavilai, R.3
Luangtrakool, K.4
Kunhapan, B.5
Lertrit, P.6
-
31
-
-
0036024978
-
Production of transmitochondrial mice
-
Pinkert C, Trounce I. Production of transmitochondrial mice. Methods 2002; 26:348-57.
-
(2002)
Methods
, vol.26
, pp. 348-357
-
-
Pinkert, C.1
Trounce, I.2
-
32
-
-
34848868793
-
Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland
-
Puomila A, Hämäläinen P, Kivioja S, Savontaus M-L, Koivomäki S, Huoponen K, Nikoskelainen E. Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland. European Journal of Human Genetics 2007; 15:1079-1089.
-
(2007)
European Journal of Human Genetics
, vol.15
, pp. 1079-1089
-
-
Puomila, A.1
Hämäläinen, P.2
Kivioja, S.3
Savontaus, M.-L.4
Koivomäki, S.5
Huoponen, K.6
Nikoskelainen, E.7
-
33
-
-
33846905085
-
The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse
-
Qi X, Sun L, Lewin AS, Hauswirth WW, Guy J. The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse. Investigative Ophthalmology & Visual Science 2007; 48:1-10.
-
(2007)
Investigative Ophthalmology & Visual Science
, vol.48
, pp. 1-10
-
-
Qi, X.1
Sun, L.2
Lewin, A.S.3
Hauswirth, W.W.4
Guy, J.5
-
34
-
-
0028949749
-
The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
-
Riordan-Eva P, Sanders M, Govan G, Sweeney M, Da Costa J, Harding A. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995; 118:319-37.
-
(1995)
Brain
, vol.118
, pp. 319-337
-
-
Riordan-Eva, P.1
Sanders, M.2
Govan, G.3
Sweeney, M.4
Da Costa, J.5
Harding, A.6
-
35
-
-
0028140454
-
Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy
-
Sciacco M, Bonilla E, Schon E, DiMauro S, Moraes C. Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy. Human Molecular Genetics 1994; 3:13-9.
-
(1994)
Human Molecular Genetics
, vol.3
, pp. 13-19
-
-
Sciacco, M.1
Bonilla, E.2
Schon, E.3
DiMauro, S.4
Moraes, C.5
-
36
-
-
0021837792
-
The inheritance of Leber's disease. A genealogical follow-up study
-
Seedorff T. The inheritance of Leber's disease. A genealogical follow-up study. Acta Ophthalmologica 1985; 63:135-45.
-
(1985)
Acta Ophthalmologica
, vol.63
, pp. 135-145
-
-
Seedorff, T.1
-
37
-
-
0034687797
-
Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice
-
Sligh JE, Levy SE, Waymire KG, Allard P, Dillehay DL, Nusinowitz S, Heckenlively JR, MacGregor GR, Wallace DC. Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice. Proceedings of the National Academy of Sciences of the United States of America 2000; 97:14461-6.
-
(2000)
Proceedings of the National Academy of Sciences of the United States of America
, vol.97
, pp. 14461-14466
-
-
Sligh, J.E.1
Levy, S.E.2
Waymire, K.G.3
Allard, P.4
Dillehay, D.L.5
Nusinowitz, S.6
Heckenlively, J.R.7
MacGregor, G.R.8
Wallace, D.C.9
-
38
-
-
2442507674
-
Obtaining mice that carry human mitochondrial DNA transmitted to the progeny
-
Sokolova VA, Kustova ME, Arbuzova NI, Sorokin AV, Moskaliova OS, Bass MG, Vasilyev VB. (2004). Obtaining mice that carry human mitochondrial DNA transmitted to the progeny. Molecular Reproduction and Development 2004; 68: 299-307.
-
(2004)
Molecular Reproduction and Development
, vol.2004
, Issue.68
, pp. 299-307
-
-
Sokolova, V.A.1
Kustova, M.E.2
Arbuzova, N.I.3
Sorokin, A.V.4
Moskaliova, O.S.5
Bass, M.G.6
Vasilyev, V.B.7
-
39
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in the mitochondria
-
Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, Croxen R, Beeson D, Poulton J, Suomalainen A, Jacobs HT, Zeviani M, Larsson C. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in the mitochondria. Nature Genetics 2001; 28:223-31.
-
(2001)
Nature Genetics
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
Li, F.Y.2
Tiranti, V.3
Nikali, K.4
Yuan, Q.P.5
Tariq, M.6
Wanrooij, S.7
Garrido, N.8
Comi, G.9
Morandi, L.10
Santoro, L.11
Toscano, A.12
Fabrizi, G.M.13
Somer, H.14
Croxen, R.15
Beeson, D.16
Poulton, J.17
Suomalainen, A.18
Jacobs, H.T.19
Zeviani, M.20
Larsson, C.21
more..
-
40
-
-
33645322163
-
Influence of mutation type on clinical expression of Leber hereditary optic neuropathy
-
Spruijt L, Kolback DN, de Coo RF, Plomp AS, Bauer NJ, Smeets HJ, de Die-Smulders CE. Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. American Journal of Ophthalmology 2006; 141: 676-82.
-
(2006)
American Journal of Ophthalmology
, vol.141
, pp. 676-682
-
-
Spruijt, L.1
Kolback, D.N.2
de Coo, R.F.3
Plomp, A.S.4
Bauer, N.J.5
Smeets, H.J.6
de Die-Smulders, C.E.7
-
41
-
-
0026554382
-
Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation
-
Stone E, Newman N, Miller N, Johns D, Lott M, Wallace D. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. Journal of Clinical Neuro-Ophthalmology 1992; 12: 10-14.
-
(1992)
Journal of Clinical Neuro-Ophthalmology
, vol.12
, pp. 10-14
-
-
Stone, E.1
Newman, N.2
Miller, N.3
Johns, D.4
Lott, M.5
Wallace, D.6
-
42
-
-
33745748018
-
Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families
-
Sun YH, Wei QP, Zhou X, Qian Y, Zhou J, Lu F, Qu J, Guan MX. Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families. Biochemical and Biophysical Research Communications 2006; 347:221-5.
-
(2006)
Biochemical and Biophysical Research Communications
, vol.347
, pp. 221-225
-
-
Sun, Y.H.1
Wei, Q.P.2
Zhou, X.3
Qian, Y.4
Zhou, J.5
Lu, F.6
Qu, J.7
Guan, M.X.8
-
43
-
-
0033604547
-
Ubiquitin tag for sperm mitochondria
-
Sutovsky P, Moreno R, Ramalho-Santos J, Dominko T, Simerly C, Schatten G. Ubiquitin tag for sperm mitochondria. Nature 1999; 402:371-2.
-
(1999)
Nature
, vol.402
, pp. 371-372
-
-
Sutovsky, P.1
Moreno, R.2
Ramalho-Santos, J.3
Dominko, T.4
Simerly, C.5
Schatten, G.6
-
44
-
-
17744393686
-
Mitochondrial DNA mutations in human disease
-
Taylor R, Turnbull D. Mitochondrial DNA mutations in human disease. Nature Reviews Genetics 2005; 6:389-402.
-
(2005)
Nature Reviews Genetics
, vol.6
, pp. 389-402
-
-
Taylor, R.1
Turnbull, D.2
-
45
-
-
0028956422
-
Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis
-
Tiranti V, Rossi E, Ruiz-Carrillo A, Rossi G, Rocchi M, DiDonato S, Zuffardi O, Zeviani M. Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis. Genomics 1995; 25:559-64.
-
(1995)
Genomics
, vol.25
, pp. 559-564
-
-
Tiranti, V.1
Rossi, E.2
Ruiz-Carrillo, A.3
Rossi, G.4
Rocchi, M.5
DiDonato, S.6
Zuffardi, O.7
Zeviani, M.8
-
46
-
-
33845997794
-
Cybrid models of mtDNA disease and transmission, from cells to mice
-
Trounce I, Pinkert C. Cybrid models of mtDNA disease and transmission, from cells to mice. Current Topics in Developmental Biology 2007; 77:157-83.
-
(2007)
Current Topics in Developmental Biology
, vol.77
, pp. 157-183
-
-
Trounce, I.1
Pinkert, C.2
-
47
-
-
9944256480
-
Molecular genetic basis of primary inherited optic neuropathies
-
Vortuba M. Molecular genetic basis of primary inherited optic neuropathies. Eye 2004; 18:1126-32.
-
(2004)
Eye
, vol.18
, pp. 1126-1132
-
-
Vortuba, M.1
-
48
-
-
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, Nikoskelainen EK. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988; 242:1427-30.
-
(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.7
Nikoskelainen, E.K.8
-
49
-
-
0031457239
-
Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24-q26, and of mouse mitochondrial polymerase gamma (Polg) to mouse chromosome band 7E
-
Zullo S, Butler L, Zahorchak R, Macville M, Wilkes C, Merril C. Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24-q26, and of mouse mitochondrial polymerase gamma (Polg) to mouse chromosome band 7E. Cytogenetics and Cell Genetics 1997; 78:281-4.
-
(1997)
Cytogenetics and Cell Genetics
, vol.78
, pp. 281-284
-
-
Zullo, S.1
Butler, L.2
Zahorchak, R.3
Macville, M.4
Wilkes, C.5
Merril, C.6
|