PubMed for id: 5022

Year	Number of Results
1981	1
1986	1
1988	1
1990	1
1992	1
1993	3
1994	1
1995	1
1998	2
1999	1
2000	2
2001	2
2002	1
2003	2
2004	3
2005	3
2006	2
2007	1
2008	5
2009	5
2010	6
2012	4
2013	4
2018	1
2021	2
2024	0

1

Haplogroup heterogeneity of LHON patients carrying the m.14484T>C mutation in India.

Khan NA, Govindaraj P, Soumittra N, Srilekha S, Ambika S, Vanniarajan A, Meena AK, Uppin MS, Sundaram C, Taly AB, Bindu PS, Gayathri N, Thangaraj K. Khan NA, et al. Invest Ophthalmol Vis Sci. 2013 Jun 10;54(6):3999-4005. doi: 10.1167/iovs.13-11925. Invest Ophthalmol Vis Sci. 2013. PMID: 23674761

2

Mouse mtDNA mutant model of Leber hereditary optic neuropathy.

Lin CS, Sharpley MS, Fan W, Waymire KG, Sadun AA, Carelli V, Ross-Cisneros FN, Baciu P, Sung E, McManus MJ, Pan BX, Gil DW, Macgregor GR, Wallace DC. Lin CS, et al. Proc Natl Acad Sci U S A. 2012 Dec 4;109(49):20065-70. doi: 10.1073/pnas.1217113109. Epub 2012 Nov 5. Proc Natl Acad Sci U S A. 2012. PMID: 23129651 Free PMC article.

3

Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families.

Zhang J, Zhou X, Zhou J, Li C, Zhao F, Wang Y, Meng Y, Wang J, Yuan M, Cai W, Tong Y, Sun YH, Yang L, Qu J, Guan MX. Zhang J, et al. Biochem Biophys Res Commun. 2010 Sep 3;399(4):647-53. doi: 10.1016/j.bbrc.2010.07.135. Epub 2010 Aug 4. Biochem Biophys Res Commun. 2010. PMID: 20691156

4

Generation of trans-mitochondrial mito-mice by the introduction of a pathogenic G13997A mtDNA from highly metastatic lung carcinoma cells.

Yokota M, Shitara H, Hashizume O, Ishikawa K, Nakada K, Ishii R, Taya C, Takenaga K, Yonekawa H, Hayashi J. Yokota M, et al. FEBS Lett. 2010 Sep 24;584(18):3943-8. doi: 10.1016/j.febslet.2010.07.048. Epub 2010 Aug 3. FEBS Lett. 2010. PMID: 20674568 Free article.

5

Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report.

Kim IS, Ki CS, Park KJ. Kim IS, et al. J Korean Med Sci. 2010 Jan;25(1):180-4. doi: 10.3346/jkms.2010.25.1.180. Epub 2009 Dec 26. J Korean Med Sci. 2010. PMID: 20052369 Free PMC article.

6

Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C.

Dermaut B, Seneca S, Dom L, Smets K, Ceulemans L, Smet J, De Paepe B, Tousseyn S, Weckhuysen S, Gewillig M, Pals P, Parizel P, De Bleecker JL, Boon P, De Meirleir L, De Jonghe P, Van Coster R, Van Paesschen W, Santens P. Dermaut B, et al. J Neurol Neurosurg Psychiatry. 2010 Jan;81(1):90-3. doi: 10.1136/jnnp.2008.157354. J Neurol Neurosurg Psychiatry. 2010. PMID: 20019223

7

Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation.

Zhao F, Guan M, Zhou X, Yuan M, Liang M, Liu Q, Liu Y, Zhang Y, Yang L, Tong Y, Wei QP, Sun YH, Qu J, Guan MX. Zhao F, et al. Biochem Biophys Res Commun. 2009 Nov 20;389(3):466-72. doi: 10.1016/j.bbrc.2009.08.168. Epub 2009 Sep 2. Biochem Biophys Res Commun. 2009. PMID: 19732751 Free PMC article.

8

T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family.

Zhang S, Wang L, Hao Y, Wang P, Hao P, Yin K, Wang QK, Liu M. Zhang S, et al. Mitochondrion. 2008 Jun;8(3):205-10. doi: 10.1016/j.mito.2008.02.003. Epub 2008 Mar 6. Mitochondrion. 2008. PMID: 18440284

9

A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations.

Fan W, Waymire KG, Narula N, Li P, Rocher C, Coskun PE, Vannan MA, Narula J, Macgregor GR, Wallace DC. Fan W, et al. Science. 2008 Feb 15;319(5865):958-62. doi: 10.1126/science.1147786. Science. 2008. PMID: 18276892 Free PMC article.

10

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. Wei QP, et al. Biochem Biophys Res Commun. 2007 Jun 15;357(4):910-6. doi: 10.1016/j.bbrc.2007.04.025. Epub 2007 Apr 16. Biochem Biophys Res Commun. 2007. PMID: 17452034

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