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Results: 1 to 20 of 36

1.

Mitochondrial NADH dehydrogenase polymorphisms are associated with breast cancer in Poland.

Grzybowska-Szatkowska L, Slaska B.

J Appl Genet. 2014 May;55(2):173-81. doi: 10.1007/s13353-013-0190-9. Epub 2014 Jan 11.

PMID:
24414975
[PubMed - in process]
Free PMC Article
2.

Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.

Koilkonda RD, Guy J.

J Ophthalmol. 2011;2011:179412. doi: 10.1155/2011/179412. Epub 2010 Dec 26.

PMID:
21253496
[PubMed]
Free PMC Article
3.

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.

PMID:
20976138
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.

Zhou X, Zhang H, Zhao F, Ji Y, Tong Y, Zhang J, Zhang Y, Yang L, Qian Y, Lu F, Qu J, Guan MX.

Mol Genet Metab. 2010 Aug;100(4):379-84. doi: 10.1016/j.ymgme.2010.04.013. Epub 2010 Apr 29.

PMID:
20627642
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.

Qu J, Wang Y, Tong Y, Zhou X, Zhao F, Yang L, Zhang S, Zhang J, West CE, Guan MX.

Invest Ophthalmol Vis Sci. 2010 Oct;51(10):4906-12. doi: 10.1167/iovs.09-5027. Epub 2010 Apr 30.

PMID:
20435583
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.

Tong Y, Sun YH, Zhou X, Zhao F, Mao Y, Wei QP, Yang L, Qu J, Guan MX.

Mol Genet Metab. 2010 Apr;99(4):417-24. doi: 10.1016/j.ymgme.2009.12.004. Epub 2010 Jan 6.

PMID:
20053576
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.

D'Aurelio M, Vives-Bauza C, Davidson MM, Manfredi G.

Hum Mol Genet. 2010 Jan 15;19(2):374-86. doi: 10.1093/hmg/ddp503. Epub 2009 Oct 29.

PMID:
19875463
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation.

Qu J, Zhou X, Zhao F, Liu X, Zhang M, Sun YH, Liang M, Yuan M, Liu Q, Tong Y, Wei QP, Yang L, Guan MX.

Biochim Biophys Acta. 2010 Mar;1800(3):305-12. doi: 10.1016/j.bbagen.2009.08.010. Epub 2009 Sep 3.

PMID:
19733221
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation.

Qu J, Zhou X, Zhang J, Zhao F, Sun YH, Tong Y, Wei QP, Cai W, Yang L, West CE, Guan MX.

Ophthalmology. 2009 Mar;116(3):558-564.e3. doi: 10.1016/j.ophtha.2008.10.022. Epub 2009 Jan 22.

PMID:
19167085
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

mtDNA nt13708A variant increases the risk of multiple sclerosis.

Yu X, Koczan D, Sulonen AM, Akkad DA, Kroner A, Comabella M, Costa G, Corongiu D, Goertsches R, Camina-Tato M, Thiesen HJ, Nyland HI, Mørk SJ, Montalban X, Rieckmann P, Marrosu MG, Myhr KM, Epplen JT, Saarela J, Ibrahim SM.

PLoS One. 2008 Feb 13;3(2):e1530. doi: 10.1371/journal.pone.0001530.

PMID:
18270557
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family.

Qu J, Li R, Zhou X, Tong Y, Yang L, Chen J, Zhao F, Lu C, Qian Y, Lu F, Guan MX.

Mitochondrion. 2007 Feb-Apr;7(1-2):140-6. Epub 2006 Dec 8.

PMID:
17300996
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Leber hereditary optic neuropathy.

Man PY, Turnbull DM, Chinnery PF.

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

PMID:
11897814
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Mitochondrial DNA analysis: polymorphisms and pathogenicity.

Chinnery PF, Howell N, Andrews RM, Turnbull DM.

J Med Genet. 1999 Jul;36(7):505-10. Review.

PMID:
10424809
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

Guan MX, Enriquez JA, Fischel-Ghodsian N, Puranam RS, Lin CP, Maw MA, Attardi G.

Mol Cell Biol. 1998 Oct;18(10):5868-79.

PMID:
9742104
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations.

Hofmann S, Bezold R, Jaksch M, Kaufhold P, Obermaier-Kusser B, Gerbitz KD.

Am J Hum Genet. 1997 Jun;60(6):1539-42. No abstract available.

PMID:
9199577
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A, Scozzari R.

Am J Hum Genet. 1997 May;60(5):1107-21.

PMID:
9150158
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.

Brown MD, Sun F, Wallace DC.

Am J Hum Genet. 1997 Feb;60(2):381-7.

PMID:
9012411
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, Harding AE, Govan G, Bolhuis PA, Norby S.

Am J Hum Genet. 1996 Aug;59(2):481-5. No abstract available.

PMID:
8755941
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy.

Yen MY, Lee HC, Liu JH, Wei YH.

Br J Ophthalmol. 1996 Jan;80(1):78-81.

PMID:
8664239
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

De Vries DD, Went LN, Bruyn GW, Scholte HR, Hofstra RM, Bolhuis PA, van Oost BA.

Am J Hum Genet. 1996 Apr;58(4):703-11.

PMID:
8644732
[PubMed - indexed for MEDLINE]
Free PMC Article
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