-
1
-
-
77955541738
-
Leber's hereditary optic neuropathy: Clinical and molecular profile of a Brazilian sample
-
[PMID: 20565249]
-
Maciel-Guerra AT, Zanchetta LM, Amaral Fernandes MS, Andrade PB, do Amor Divino Miranda PM, Sartorato EL. Leber's hereditary optic neuropathy: clinical and molecular profile of a Brazilian sample. Ophthalmic Genet 2010; 31:126-8. [PMID: 20565249]
-
(2010)
Ophthalmic Genet
, vol.31
, pp. 126-128
-
-
Maciel-Guerra, A.T.1
Zanchetta, L.M.2
Amaral Fernandes, M.S.3
Andrade, P.B.4
do Amor Divino Miranda, P.M.5
Sartorato, E.L.6
-
2
-
-
10744227920
-
Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy
-
[PMID: 14962416]
-
Sadun F, De Negri AM, Carelli V, Salomao SR, Berezovsky A, Andrade R, Moraes M, Passos A, Belfort R, Rosa AB, Quiros P, Sadun AA. Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol 2004; 137:271-7. [PMID: 14962416]
-
(2004)
Am J Ophthalmol
, vol.137
, pp. 271-277
-
-
Sadun, F.1
de Negri, A.M.2
Carelli, V.3
Salomao, S.R.4
Berezovsky, A.5
Andrade, R.6
Moraes, M.7
Passos, A.8
Belfort, R.9
Rosa, A.B.10
Quiros, P.11
Sadun, A.A.12
-
3
-
-
31544440128
-
Colour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: A case-control study
-
[PMID: 16424523]
-
Quiros PA, Torres RJ, Salomao S, Berezovsky A, Carelli V, Sherman J, Sadun F, De Negri A, Belfort R, Sadun AA. Colour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study. Br J Ophthalmol 2006; 90:150-3. [PMID: 16424523]
-
(2006)
Br J Ophthalmol
, vol.90
, pp. 150-153
-
-
Quiros, P.A.1
Torres, R.J.2
Salomao, S.3
Berezovsky, A.4
Carelli, V.5
Sherman, J.6
Sadun, F.7
de Negri, A.8
Belfort, R.9
Sadun, A.A.10
-
4
-
-
33645322163
-
Influence of mutation type on clinical expression of Leber hereditary optic neuropathy
-
[PMID: 16564802]
-
Spruijt L, Kolbach 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. Am J Ophthalmol 2006; 141:676-82. [PMID: 16564802]
-
(2006)
Am J Ophthalmol
, vol.141
, pp. 676-682
-
-
Spruijt, L.1
Kolbach, 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
-
5
-
-
52049110832
-
Leber hereditary optic neuropathy in an octogenarian
-
[PMID: 18562851]
-
Dagi LR, Rizzo JF. 3, Cestari DM. Leber hereditary optic neuropathy in an octogenarian. J Neuroophthalmol 2008; 28:156. [PMID: 18562851]
-
(2008)
J Neuroophthalmol
, vol.28
, pp. 156
-
-
Dagi, L.R.1
Rizzo III, J.F.2
Cestari, D.M.3
-
6
-
-
67651222602
-
Another case of Leber hereditary optic neurophaty in an octogenarian
-
[PMID: 19491649]
-
Decanini-Mancera A, Harrison AR, Lee MS. Another case of Leber hereditary optic neurophaty in an octogenarian. J Neuroophthalmol 2009; 29:159-60. [PMID: 19491649]
-
(2009)
J Neuroophthalmol
, vol.29
, pp. 159-160
-
-
Decanini-Mancera, A.1
Harrison, A.R.2
Lee, M.S.3
-
7
-
-
0036201070
-
Leber hereditary optic neuropathy
-
[PMID: 11897814]
-
Man PY, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet 2002; 39:162-9. [PMID: 11897814]
-
(2002)
J Med Genet
, vol.39
, pp. 162-169
-
-
Man, P.Y.1
Turnbull, D.M.2
Chinnery, P.F.3
-
8
-
-
0344196739
-
Leber hereditary optic neuropathy-a disease with a known molecular basis but a mysterious mechanism of pathology
-
[PMID: 14617834]
-
Mroczek-Tonska K, Kisiel B, Piechota J, Bartnik E. Leber hereditary optic neuropathy-a disease with a known molecular basis but a mysterious mechanism of pathology. J Appl Genet 2003; 44:529-38. [PMID: 14617834]
-
(2003)
J Appl Genet
, vol.44
, pp. 529-538
-
-
Mroczek-Tonska, K.1
Kisiel, B.2
Piechota, J.3
Bartnik, E.4
-
10
-
-
33751266872
-
Mitochondrial DNA haplogroup distribution in pedigrees of Southeast Asian G11778A Leber hereditary optic neuropathy
-
[PMID: 17204919]
-
Tharaphan P, Chuenkongkaew WL, Luangtrakool K, Sanpachudayan T, Suktitipat B, Suphavilai R, Srisawat C, Sura T, Lertrit P. Mitochondrial DNA haplogroup distribution in pedigrees of Southeast Asian G11778A Leber hereditary optic neuropathy. J Neuroophthalmol 2006; 26:264-7. [PMID: 17204919]
-
(2006)
J Neuroophthalmol
, vol.26
, pp. 264-267
-
-
Tharaphan, P.1
Chuenkongkaew, W.L.2
Luangtrakool, K.3
Sanpachudayan, T.4
Suktitipat, B.5
Suphavilai, R.6
Srisawat, C.7
Sura, T.8
Lertrit, P.9
-
11
-
-
0028651901
-
Optic neuropathy caused by alcoholism and smoking: A diagnostic pitfall of Leber's optic neuropathy
-
[PMID: 7597375]
-
Borruat FX, Hirt L, Regli F. Optic neuropathy caused by alcoholism and smoking: a diagnostic pitfall of Leber's optic neuropathy. Rev Neurol (Paris) 1994; 150:799-801. [PMID: 7597375]
-
(1994)
Rev Neurol (Paris)
, vol.150
, pp. 799-801
-
-
Borruat, F.X.1
Hirt, L.2
Regli, F.3
-
12
-
-
0027520465
-
Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia
-
[PMID: 8240101]PubMed
-
Cullom ME, Heher KL, Miller NR, Savino PJ, Johns DR. Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia. Arch Ophthalmol 1993; 111:1482-5. [PMID: 8240101]PubMed
-
(1993)
Arch Ophthalmol
, vol.111
, pp. 1482-1485
-
-
Cullom, M.E.1
Heher, K.L.2
Miller, N.R.3
Savino, P.J.4
Johns, D.R.5
-
14
-
-
0036182712
-
Optic nerve degeneration and mitochondrial dysfunction: Genetic and acquired optic neuropathies
-
[PMID: 11850115]
-
Carelli V, Ross-Cisneros FN, Sadun AA. Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies. Neurochem Int 2002; 40:573-84. [PMID: 11850115]
-
(2002)
Neurochem Int
, vol.40
, pp. 573-584
-
-
Carelli, V.1
Ross-Cisneros, F.N.2
Sadun, A.A.3
-
15
-
-
0942268749
-
The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head
-
[PMID: 14736793]
-
Barron MJ, Griffiths P, Turnbull DM, Bates D, Nichols P. The distributions of mitochondria and sodium channels reflect the specific energy requirements and conduction properties of the human optic nerve head. Br J Ophthalmol 2004; 88:286-90. [PMID: 14736793]
-
(2004)
Br J Ophthalmol
, vol.88
, pp. 286-290
-
-
Barron, M.J.1
Griffiths, P.2
Turnbull, D.M.3
Bates, D.4
Nichols, P.5
-
16
-
-
0036895724
-
From genotype to phenotype in Leber hereditary optic neuropathy: Still more questions than answers
-
[PMID: 12464728]
-
Newman NJ. From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers. J Neuroophthalmol 2002; 22:257-61. [PMID: 12464728]
-
(2002)
J Neuroophthalmol
, vol.22
, pp. 257-261
-
-
Newman, N.J.1
-
17
-
-
0034536967
-
A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy
-
[PMID: 11124301]
-
Kerrison JB, Miller NR, Hsu FC, Beaty TH, Maumenee IH, Smith KH, Savino PJ, Stone EM, Newman NJ. A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy. Am J Ophthalmol 2000; 130:803-12. [PMID: 11124301]
-
(2000)
Am J Ophthalmol
, vol.130
, pp. 803-812
-
-
Kerrison, J.B.1
Miller, N.R.2
Hsu, F.C.3
Beaty, T.H.4
Maumenee, I.H.5
Smith, K.H.6
Savino, P.J.7
Stone, E.M.8
Newman, N.J.9
-
18
-
-
70949090567
-
Geneenvironment interactions in Leber hereditary optic neuropathy
-
[PMID: 19525327]
-
Kirkman MA, Yu-Wai-Man P, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Chinnery PF. Geneenvironment interactions in Leber hereditary optic neuropathy. Brain 2009; 132:2317-26. [PMID: 19525327]
-
(2009)
Brain
, vol.132
, pp. 2317-2326
-
-
Kirkman, M.A.1
Yu-Wai-Man, P.2
Korsten, A.3
Leonhardt, M.4
Dimitriadis, K.5
de Coo, I.F.6
Klopstock, T.7
Chinnery, P.F.8
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