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Results: 1 to 20 of 121

1.

Deep sequencing unearths nuclear mitochondrial sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants.

Petruzzella V, Carrozzo R, Calabrese C, Dell'Aglio R, Trentadue R, Piredda R, Artuso L, Rizza T, Bianchi M, Porcelli AM, Guerriero S, Gasparre G, Attimonelli M.

Hum Mol Genet. 2012 Sep 1;21(17):3753-64. doi: 10.1093/hmg/dds182. Epub 2012 May 15.

PMID:
22589247
[PubMed - indexed for MEDLINE]
Free Article
2.

Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families.

Liu XL, Zhou X, Zhou J, Zhao F, Zhang J, Li C, Ji Y, Zhang Y, Wei QP, Sun YH, Yang L, Lin B, Yuan Y, Li Y, Qu J, Guan MX.

Ophthalmology. 2011 May;118(5):978-85. doi: 10.1016/j.ophtha.2010.09.003. Epub 2010 Dec 4.

PMID:
21131053
[PubMed - indexed for MEDLINE]
3.

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.

Giordano C, Iommarini L, Giordano L, Maresca A, Pisano A, Valentino ML, Caporali L, Liguori R, Deceglie S, Roberti M, Fanelli F, Fracasso F, Ross-Cisneros FN, D'Adamo P, Hudson G, Pyle A, Yu-Wai-Man P, Chinnery PF, Zeviani M, Salomao SR, Berezovsky A, Belfort R Jr, Ventura DF, Moraes M, Moraes Filho M, Barboni P, Sadun F, De Negri A, Sadun AA, Tancredi A, Mancini M, d'Amati G, Loguercio Polosa P, Cantatore P, Carelli V.

Brain. 2014 Feb;137(Pt 2):335-53. doi: 10.1093/brain/awt343. Epub 2013 Dec 24.

PMID:
24369379
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
Free Article
5.

The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.

Mayorov V, Biousse V, Newman NJ, Brown MD.

Ann Neurol. 2005 Nov;58(5):807-11.

PMID:
16240359
[PubMed - indexed for MEDLINE]
6.

[The analysis of Leber's hereditary optic neuropathy associated with mitochondrial tRNAAla C5601T mutation in seven Han Chinese families].

Zhou HH, Dai XN, Lin B, Mi H, Liu XL, Zhao FX, Zhang JJ, Zhou XT, Sun YH, Wei QP, Qu J, Guan MX.

Yi Chuan. 2012 Aug;34(8):1031-42. Chinese.

PMID:
22917908
[PubMed - indexed for MEDLINE]
7.

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.

La Morgia C, Achilli A, Iommarini L, Barboni P, Pala M, Olivieri A, Zanna C, Vidoni S, Tonon C, Lodi R, Vetrugno R, Mostacci B, Liguori R, Carroccia R, Montagna P, Rugolo M, Torroni A, Carelli V.

Neurology. 2008 Mar 4;70(10):762-70. doi: 10.1212/01.wnl.0000295505.74234.d0. Epub 2008 Jan 23.

PMID:
18216301
[PubMed - indexed for MEDLINE]
8.

[The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families].

Ji YC, Liu XL, Zhao FX, Zhang JJ, Zhang Y, Zhou XT, Qu J, Guan MX.

Yi Chuan. 2011 Apr;33(4):322-8. Chinese.

PMID:
21482521
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
20454697
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
Free Article
12.

Rapid quantification of the heteroplasmy of mutant mitochondrial DNAs in Leber's hereditary optic neuropathy using the Invader technology.

Mashima Y, Nagano M, Funayama T, Zhang Q, Egashira T, Kudho J, Shimizu N, Oguchi Y.

Clin Biochem. 2004 Apr;37(4):268-76.

PMID:
15003728
[PubMed - indexed for MEDLINE]
13.

Leber's hereditary optic neuropathy--the spectrum of mitochondrial DNA mutations in Chinese patients.

Yen MY, Wang AG, Chang WL, Hsu WM, Liu JH, Wei YH.

Jpn J Ophthalmol. 2002 Jan-Feb;46(1):45-51.

PMID:
11853713
[PubMed - indexed for MEDLINE]
14.

A simple oligonucleotide biochip capable of rapidly detecting known mitochondrial DNA mutations in Chinese patients with Leber's hereditary optic neuropathy (LHON).

Du WD, Chen G, Cao HM, Jin QH, Liao RF, He XC, Chen DB, Huang SR, Zhao H, Lv YM, Tang HY, Tang XF, Wang YQ, Sun S, Zhao JL, Zhang XJ.

Dis Markers. 2011;30(4):181-90. doi: 10.3233/DMA-2011-0767.

PMID:
21694444
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations.

Howell N, Miller NR, Mackey DA, Arnold A, Herrnstadt C, Williams IM, Kubacka I.

J Neuroophthalmol. 2002 Dec;22(4):262-9.

PMID:
12464729
[PubMed - indexed for MEDLINE]
16.

The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity.

Ghelli A, Porcelli AM, Zanna C, Vidoni S, Mattioli S, Barbieri A, Iommarini L, Pala M, Achilli A, Torroni A, Rugolo M, Carelli V.

PLoS One. 2009 Nov 19;4(11):e7922. doi: 10.1371/journal.pone.0007922.

PMID:
19936068
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss.

Wei QP, Zhou X, Yang L, Sun YH, Zhou J, Li G, Jiang R, Lu F, Qu J, Guan MX.

Biochem Biophys Res Commun. 2007 Jun 15;357(4):910-6. Epub 2007 Apr 16.

PMID:
17452034
[PubMed - indexed for MEDLINE]
18.

Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction.

Carelli V, Giordano C, d'Amati G.

Trends Genet. 2003 May;19(5):257-62. Review.

PMID:
12711217
[PubMed - indexed for MEDLINE]
19.

Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree.

Howell N, Kubacka I, Keers SM, Turnbull DM, Chinnery PF.

Hum Genet. 2005 Jan;116(1-2):28-32. Epub 2004 Nov 3.

PMID:
15599765
[PubMed - indexed for MEDLINE]
20.

[A pedigree of Leber's hereditary optic neuropathy with mtDNA 14484 mutation].

Tong Y, Wang Y, Jiang F, Liu B, Zhang S, Yang W.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Oct;25(5):531-3. Chinese.

PMID:
18841565
[PubMed - indexed for MEDLINE]

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