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Items: 1 to 20 of 109

1.

Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy.

Thouin A, Griffiths PG, Hudson G, Chinnery PF, Yu-Wai-Man P.

PLoS One. 2013 May 7;8(5):e63446. doi: 10.1371/journal.pone.0063446. Print 2013.

2.

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Yu-Wai-Man P, Griffiths PG, Chinnery PF.

Prog Retin Eye Res. 2011 Mar;30(2):81-114. doi: 10.1016/j.preteyeres.2010.11.002. Epub 2010 Nov 26. Review.

3.

Gene-environment interactions in Leber hereditary optic neuropathy.

Kirkman MA, Yu-Wai-Man P, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Chinnery PF.

Brain. 2009 Sep;132(Pt 9):2317-26. doi: 10.1093/brain/awp158. Epub 2009 Jun 12.

4.

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 ML, Huoponen K, Savontaus ML, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Yu-Wai-Man P, de Coo RF, Horvath R, Zeviani M, Smeets HJ, Torroni A, Chinnery PF.

Am J Hum Genet. 2007 Aug;81(2):228-33. Epub 2007 Jun 4.

5.

[Research progress of Leber hereditary optic neuropathy].

Zhang AM, Yao YG.

Yi Chuan. 2013 Feb;35(2):123-35. Review. Chinese.

PMID:
23448924
6.

Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe.

Mascialino B, Leinonen M, Meier T.

Eur J Ophthalmol. 2012 May-Jun;22(3):461-5. doi: 10.5301/ejo.5000055.

PMID:
21928272
7.

mtDNA m.3635G>A may be classified as a common primary mutation for Leber hereditary optic neuropathy in the Chinese population.

Jia X, Li S, Wang P, Guo X, Zhang Q.

Biochem Biophys Res Commun. 2010 Dec 10;403(2):237-41. doi: 10.1016/j.bbrc.2010.11.017. Epub 2010 Nov 11.

PMID:
21074518
8.

Profiling the mitochondrial proteome of Leber's Hereditary Optic Neuropathy (LHON) in Thailand: down-regulation of bioenergetics and mitochondrial protein quality control pathways in fibroblasts with the 11778G>A mutation.

Tun AW, Chaiyarit S, Kaewsutthi S, Katanyoo W, Chuenkongkaew W, Kuwano M, Tomonaga T, Peerapittayamongkol C, Thongboonkerd V, Lertrit P.

PLoS One. 2014 Sep 12;9(9):e106779. doi: 10.1371/journal.pone.0106779. eCollection 2014.

9.

Treatment strategies for inherited optic neuropathies: past, present and future.

Yu-Wai-Man P, Votruba M, Moore AT, Chinnery PF.

Eye (Lond). 2014 May;28(5):521-37. doi: 10.1038/eye.2014.37. Epub 2014 Mar 7. Review.

10.

[Sudden blindness: consider Leber's hereditary optic neuropathy].

Schieving JH, de Vries BB, Hol F, Stroink H.

Ned Tijdschr Geneeskd. 2008 Oct 25;152(43):2313-6. Dutch.

PMID:
19024058
11.

Clinical and electrophysiology findings in Slovene patients with Leber hereditary optic neuropathy.

Jarc-Vidmar M, Tajnik M, Brecelj J, Fakin A, Sustar M, Naji M, Stirn-Kranjc B, Glavač D, Hawlina M.

Doc Ophthalmol. 2015 Jun;130(3):179-87. doi: 10.1007/s10633-015-9489-7. Epub 2015 Feb 19.

PMID:
25690485
12.

Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON.

Hudson G, Yu-Wai-Man P, Griffiths PG, Horvath R, Carelli V, Zeviani M, Chinnery PF.

Mitochondrion. 2011 Jul;11(4):620-2. doi: 10.1016/j.mito.2011.03.004. Epub 2011 Mar 21.

13.

Quality of life in patients with leber hereditary optic neuropathy.

Kirkman MA, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Griffiths PG, Hudson G, Chinnery PF, Yu-Wai-Man P.

Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3112-5. doi: 10.1167/iovs.08-3166. Epub 2009 Feb 28.

PMID:
19255150
14.

Leber hereditary optic neuropathy.

Y-W-Man P, Turnbull DM, Chinnery PF.

J Med Genet. 2002 Mar;39(3):162-9. Review.

15.

Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.

Ji Y, Zhang AM, Jia X, Zhang YP, Xiao X, Li S, Guo X, Bandelt HJ, Zhang Q, Yao YG.

Am J Hum Genet. 2008 Dec;83(6):760-8. doi: 10.1016/j.ajhg.2008.11.002. Epub 2008 Nov 20.

16.

ND4L gene concurrent 10609T>C and 10663T>C mutations are associated with Leber's hereditary optic neuropathy in a large pedigree from Kuwait.

Behbehani R, Melhem M, Alghanim G, Behbehani K, Alsmadi O.

Br J Ophthalmol. 2014 Jun;98(6):826-31. doi: 10.1136/bjophthalmol-2013-304140. Epub 2014 Feb 25.

17.

Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy.

Yu D, Jia X, Zhang AM, Guo X, Zhang YP, Zhang Q, Yao YG.

Neurogenetics. 2010 Jul;11(3):349-56. doi: 10.1007/s10048-010-0236-7. Epub 2010 Mar 16.

PMID:
20232220
18.

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.

19.

Retinal ganglion cell dysfunction in asymptomatic G11778A: Leber hereditary optic neuropathy.

Guy J, Feuer WJ, Porciatti V, Schiffman J, Abukhalil F, Vandenbroucke R, Rosa PR, Lam BL.

Invest Ophthalmol Vis Sci. 2014 Feb 10;55(2):841-8. doi: 10.1167/iovs.13-13365.

20.

Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T>C.

Yu D, Jia X, Zhang AM, Li S, Zou Y, Zhang Q, Yao YG.

PLoS One. 2010 Oct 18;5(10):e13426. doi: 10.1371/journal.pone.0013426.

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