Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 281

1.

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
2.

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.

3.

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
4.

Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation--A case report.

Grazina MM, Diogo LM, Garcia PC, Silva ED, Garcia TD, Robalo CB, Oliveira CR.

Eur J Paediatr Neurol. 2007 Mar;11(2):115-8. Epub 2007 Jan 24.

PMID:
17254817
5.

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.

6.

Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia.

Nishioka T, Tasaki M, Soemantri A, Dyat M, Susanto JC, Tamam M, Sudarmanto B, Ishida T.

J Hum Genet. 2003;48(7):385-9. Epub 2003 Jun 24.

PMID:
12827453
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.

Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

Spruijt L, Kolbach DN, de Coo RF, Plomp AS, Bauer NJ, Smeets HJ, de Die-Smulders CE.

Am J Ophthalmol. 2006 Apr;141(4):676-82.

PMID:
16564802
9.

Mitochondrial DNA haplogroup distribution in pedigrees of Southeast Asian G11778A Leber hereditary optic neuropathy.

Tharaphan P, Chuenkongkaew WL, Luangtrakool K, Sanpachudayan T, Suktitipat B, Suphavilai R, Srisawat C, Sura T, Lertrit P.

J Neuroophthalmol. 2006 Dec;26(4):264-7.

PMID:
17204919
10.

[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
11.

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
12.

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
13.

Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese.

Zhang AM, Zou Y, Guo X, Jia X, Zhang Q, Yao YG.

Biochem Biophys Res Commun. 2009 Aug 21;386(2):392-5. doi: 10.1016/j.bbrc.2009.06.051. Epub 2009 Jun 13.

PMID:
19527690
14.

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
15.

A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy.

Povalko N, Zakharova E, Rudenskaia G, Akita Y, Hirata K, Toyojiro M, Koga Y.

Mitochondrion. 2005 Jun;5(3):194-9.

PMID:
16050984
16.
17.

Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India.

Khan NA, Govindaraj P, Soumittra N, Sharma S, Srilekha S, Ambika S, Vanniarajan A, Meena AK, Uppin MS, Sundaram C, Bindu PS, Gayathri N, Taly AB, Thangaraj K.

Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3923-3930. doi: 10.1167/iovs.16-20695.

PMID:
28768321
18.

The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation.

Qu J, Li R, Zhou X, Tong Y, Lu F, Qian Y, Hu Y, Mo JQ, West CE, Guan MX.

Invest Ophthalmol Vis Sci. 2006 Feb;47(2):475-83.

PMID:
16431939
19.

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
20.

Proportion of 11778 mutant mitochondrial DNA and clinical expression in a thai population with leber hereditary optic neuropathy.

Chuenkongkaew WL, Suphavilai R, Vaeusorn L, Phasukkijwatana N, Lertrit P, Suktitipat B.

J Neuroophthalmol. 2005 Sep;25(3):173-5.

PMID:
16148621

Supplemental Content

Support Center