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Items: 1 to 20 of 105

1.

Leber hereditary optic neuropathy mutations and toxic-genetic optic neuropathy - authors' response.

Kervinen M, Widgren P, Saarela V, Uusimaa J, Remes A.

Acta Ophthalmol. 2014 Feb;92(1):e78-9. doi: 10.1111/aos.12089. Epub 2013 Feb 25. No abstract available.

2.

Tobacco-alcohol amblyopia does not exist.

Grzybowski A, Pieniążek M.

Acta Ophthalmol. 2014 Feb;92(1):e77-8. doi: 10.1111/aos.12101. Epub 2013 Mar 18. No abstract available.

3.

Prevalence of the primary LHON mutations in Northern Finland associated with bilateral optic atrophy and tobacco-alcohol amblyopia.

Korkiamäki P, Kervinen M, Karjalainen K, Majamaa K, Uusimaa J, Remes AM.

Acta Ophthalmol. 2013 Nov;91(7):630-4. doi: 10.1111/j.1755-3768.2012.02506.x. Epub 2012 Sep 12.

4.

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.

J Hum Genet. 2006;51(10):851-6. Epub 2006 Sep 14.

PMID:
16972023
5.

The genetics of leber hereditary optic neuropathy--prototype of an inherited optic neuropathy with mitochondrial dysfunction.

Eichhorn-Mulligan K, Cestari DM.

Semin Ophthalmol. 2008 Jan-Feb;23(1):27-37. doi: 10.1080/08820530701745207. Review.

PMID:
18214789
6.

Leber Hereditary Optic Neuropathy: Bringing the Lab to the Clinic.

Rasool N, Lessell S, Cestari DM.

Semin Ophthalmol. 2016;31(1-2):107-16. doi: 10.3109/08820538.2015.1115251. Review.

PMID:
26959136
7.

Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy.

Taylor RW, Jobling MS, Turnbull DM, Chinnery PF.

J Med Genet. 2003 Jul;40(7):e85. No abstract available.

8.
9.

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
10.
11.

[Leber's optic neuropathy: a mitochondrial disease revealing its secret].

Nikoskelainen E, Savontaus ML.

Duodecim. 1998;114(3):303-6. Finnish. No abstract available.

PMID:
10895506
12.

[Leber's optic neuropathy presenting as an alcohol- and tobacco-related optic neuropathy].

Leveziel N, Guépratte N, Lebuisson DA.

J Fr Ophtalmol. 2004 Jan;27(1):53-6. French.

13.

Detection of mitochondrial DNA mutations associated with leber hereditary optic neuropathy.

Muralidharan K.

Methods Mol Biol. 2003;217:199-205. No abstract available.

PMID:
12491934
14.

From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers.

Newman NJ.

J Neuroophthalmol. 2002 Dec;22(4):257-61. Review. No abstract available.

PMID:
12464728
15.

Posterior reversible encephalopathy syndrome in a leber hereditary optic neuropathy patient with mitochondrial DNA 11778G>A point mutation.

Da Y, Zhang X, Li F, Yang X, Zhang X, Jia J.

J Neuroophthalmol. 2013 Sep;33(3):276-8. doi: 10.1097/WNO.0b013e31828f8d75.

PMID:
23782927
16.

Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCR.

Bi R, Zhang AM, Yu D, Chen D, Yao YG.

Clin Chim Acta. 2010 Nov 11;411(21-22):1671-4. doi: 10.1016/j.cca.2010.06.026. Epub 2010 Jul 1.

PMID:
20599858
17.

A family with 3460G>A and 11778G>A mutations and haplogroup analysis of Polish Leber hereditary optic neuropathy patients.

Tonska K, Kurzawa M, Ambroziak AM, Korwin-Rujna M, Szaflik JP, Grabowska E, Szaflik J, Bartnik E.

Mitochondrion. 2008 Dec;8(5-6):383-8. doi: 10.1016/j.mito.2008.08.002. Epub 2008 Aug 29.

PMID:
18801464
18.

Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland.

Puomila A, Hämäläinen P, Kivioja S, Savontaus ML, Koivumäki S, Huoponen K, Nikoskelainen E.

Eur J Hum Genet. 2007 Oct;15(10):1079-89. Epub 2007 Apr 4.

19.

Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation.

Tarnopolsky MA, Baker SK, Myint T, Maxner CE, Robitaille J, Robinson BH.

Am J Med Genet A. 2004 Feb 1;124A(4):372-6.

PMID:
14735584
20.

A patient with two mitochondrial DNA mutations causing PEO and LHON.

Melberg A, Moslemi AR, Palm O, Raininko R, Stålberg E, Oldfors A.

Eur J Med Genet. 2009 Jan-Feb;52(1):47-8. doi: 10.1016/j.ejmg.2008.10.004. Epub 2008 Nov 5.

PMID:
19015050

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