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Items: 1 to 20 of 578

1.

Clinical characterization and mitochondrial DNA sequence variations in Leber hereditary optic neuropathy.

Kumar M, Kaur P, Kumar M, Saxena R, Sharma P, Dada R.

Mol Vis. 2012;18:2687-99. Epub 2012 Nov 12.

2.

Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathy.

Kumar M, Tanwar M, Saxena R, Sharma P, Dada R.

Mol Vis. 2010 Apr 30;16:782-92.

3.

Mitochondrial abnormalities in patients with LHON-like optic neuropathies.

Abu-Amero KK, Bosley TM.

Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4211-20.

PMID:
17003408
4.

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.

Brain. 2001 Jan;124(Pt 1):209-18.

PMID:
11133798
5.

Fifteen novel mutations in the mitochondrial NADH dehydrogenase subunit 1, 2, 3, 4, 4L, 5 and 6 genes from Iranian patients with Leber's hereditary optic neuropathy (LHON).

Rezvani Z, Didari E, Arastehkani A, Ghodsinejad V, Aryani O, Kamalidehghan B, Houshmand M.

Mol Biol Rep. 2013 Dec;40(12):6837-41. doi: 10.1007/s11033-013-2801-2. Epub 2013 Oct 24.

PMID:
24158608
6.

[The influence of mitochondrial haplogroup on Leber's hereditary optic neuropathy].

Mao YJ, Qu J, Guan MX.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Feb;25(1):45-9. Review. Chinese.

PMID:
18247303
7.

Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery.

Leo-Kottler B, Luberichs J, Besch D, Christ-Adler M, Fauser S.

Graefes Arch Clin Exp Ophthalmol. 2002 Sep;240(9):758-64. Epub 2002 Aug 2.

PMID:
12271374
8.

Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy.

Amaral-Fernandes MS, Marcondes AM, do Amor Divino Miranda PM, Maciel-Guerra AT, Sartorato EL.

Mol Vis. 2011;17:3175-9. Epub 2011 Dec 7.

9.

Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations.

Brown MD, Allen JC, Van Stavern GP, Newman NJ, Wallace DC.

Am J Med Genet. 2001 Dec 15;104(4):331-8.

PMID:
11754070
10.

Mutant NADH dehydrogenase subunit 4 gene delivery to mitochondria by targeting sequence-modified adeno-associated virus induces visual loss and optic atrophy in mice.

Yu H, Ozdemir SS, Koilkonda RD, Chou TH, Porciatti V, Chiodo V, Boye SL, Hauswirth WW, Lewin AS, Guy J.

Mol Vis. 2012;18:1668-83. Epub 2012 Jun 20.

11.

Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy.

Liang M, Jiang P, Li F, Zhang J, Ji Y, He Y, Xu M, Zhu J, Meng X, Zhao F, Tong Y, Liu X, Sun Y, Zhou X, Mo JQ, Qu J, Guan MX.

Invest Ophthalmol Vis Sci. 2014 Mar 6;55(3):1321-31. doi: 10.1167/iovs.13-13011.

PMID:
24398099
12.

The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.

Jiang P, Jin X, Peng Y, Wang M, Liu H, Liu X, Zhang Z, Ji Y, Zhang J, Liang M, Zhao F, Sun YH, Zhang M, Zhou X, Chen Y, Mo JQ, Huang T, Qu J, Guan MX.

Hum Mol Genet. 2016 Feb 1;25(3):584-96. doi: 10.1093/hmg/ddv498. Epub 2015 Dec 8.

PMID:
26647310
13.

A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy.

Luberichs J, Leo-Kottler B, Besch D, Fauser S.

Graefes Arch Clin Exp Ophthalmol. 2002 Feb;240(2):96-100.

PMID:
11931086
14.
15.

Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy.

Fauser S, Leo-Kottler B, Besch D, Luberichs J.

Ophthalmic Genet. 2002 Sep;23(3):191-7.

PMID:
12324878
16.

Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes.

Hofmann S, Bezold R, Jaksch M, Obermaier-Kusser B, Mertens S, Kaufhold P, Rabl W, Hecker W, Gerbitz KD.

Genomics. 1997 Jan 1;39(1):8-18.

PMID:
9027481
17.

The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.

Brown MD, Starikovskaya E, Derbeneva O, Hosseini S, Allen JC, Mikhailovskaya IE, Sukernik RI, Wallace DC.

Hum Genet. 2002 Feb;110(2):130-8. Epub 2002 Jan 24.

PMID:
11935318
18.

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

Pello R, Martín MA, Carelli V, Nijtmans LG, Achilli A, Pala M, Torroni A, Gómez-Durán A, Ruiz-Pesini E, Martinuzzi A, Smeitink JA, Arenas J, Ugalde C.

Hum Mol Genet. 2008 Dec 15;17(24):4001-11. doi: 10.1093/hmg/ddn303. Epub 2008 Sep 19.

PMID:
18806273
19.
20.

Mitochondrial haplogroup background may influence Southeast Asian G11778A Leber hereditary optic neuropathy.

Kaewsutthi S, Phasukkijwatana N, Joyjinda Y, Chuenkongkaew W, Kunhapan B, Tun AW, Suktitipat B, Lertrit P.

Invest Ophthalmol Vis Sci. 2011 Jul 1;52(7):4742-8. doi: 10.1167/iovs.10-5816.

PMID:
21398275

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