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Items: 1 to 20 of 47

1.

Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand.

Phasukkijwatana N, Kunhapan B, Stankovich J, Chuenkongkaew WL, Thomson R, Thornton T, Bahlo M, Mushiroda T, Nakamura Y, Mahasirimongkol S, Tun AW, Srisawat C, Limwongse C, Peerapittayamongkol C, Sura T, Suthammarak W, Lertrit P.

Hum Genet. 2010 Jul;128(1):39-49. doi: 10.1007/s00439-010-0821-8. Epub 2010 Apr 21.

PMID:
20407791
2.

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.

Biochem Biophys Res Commun. 2009 Nov 20;389(3):466-72. doi: 10.1016/j.bbrc.2009.08.168. Epub 2009 Sep 2.

3.

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.

Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA.

Biochim Biophys Acta. 2009 May;1787(5):518-28. doi: 10.1016/j.bbabio.2009.02.024. Epub 2009 Mar 5. Review.

4.

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.

5.

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.

6.

Inherited mitochondrial optic neuropathies.

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

J Med Genet. 2009 Mar;46(3):145-58. doi: 10.1136/jmg.2007.054270. Epub 2008 Nov 10. Review. Erratum in: J Med Genet. 2011 Apr;48(4):284.

7.

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

Pello R, Martín MA, Carelli V, Nijtmans LG, Achilli A, Pala M, Torroni A, Gómez-Durán A, Ruiz-Pesini E, Martinuzzi A, Smeitink JA, Arenas J, Ugalde C.

Hum Mol Genet. 2008 Dec 15;17(24):4001-11. doi: 10.1093/hmg/ddn303. Epub 2008 Sep 19.

PMID:
18806273
8.

Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy.

Shankar SP, Fingert JH, Carelli V, Valentino ML, King TM, Daiger SP, Salomao SR, Berezovsky A, Belfort R Jr, Braun TA, Sheffield VC, Sadun AA, Stone EM.

Ophthalmic Genet. 2008 Mar;29(1):17-24. doi: 10.1080/13816810701867607.

PMID:
18363168
9.

X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.

Hudson G, Carelli V, Horvath R, Zeviani M, Smeets HJ, Chinnery PF.

Mol Vis. 2007 Dec 21;13:2339-43.

PMID:
18199976
10.

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.

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.

12.

Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy.

Phasukkijwatana N, Chuenkongkaew WL, Suphavilai R, Luangtrakool K, Kunhapan B, Lertrit P.

J Hum Genet. 2006;51(12):1110-7. Epub 2006 Oct 28.

PMID:
17072496
13.

Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations.

Kong QP, Bandelt HJ, Sun C, Yao YG, Salas A, Achilli A, Wang CY, Zhong L, Zhu CL, Wu SF, Torroni A, Zhang YP.

Hum Mol Genet. 2006 Jul 1;15(13):2076-86. Epub 2006 May 19.

PMID:
16714301
14.

The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family.

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

Gene. 2006 Jul 5;376(1):79-86. Epub 2006 Apr 19.

PMID:
16624503
15.

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, Olivieri A, Mattiazzi M, Pallotti F, Carrara F, Zeviani M, Leuzzi V, Carducci C, Valle G, Simionati B, Mendieta L, Salomao S, Belfort R Jr, Sadun AA, Torroni A.

Am J Hum Genet. 2006 Apr;78(4):564-74. Epub 2006 Jan 27.

16.

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
17.

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.

Hudson G, Keers S, Yu-Wai-Man P, Griffiths P, Huoponen K, Savontaus ML, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, de Coo IF, Smeets HJ, Chinnery PF.

Am J Hum Genet. 2005 Dec;77(6):1086-91. Epub 2005 Oct 11.

19.

Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy.

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

Biochem Biophys Res Commun. 2005 Jul 1;332(2):614-21.

PMID:
15896721
20.

Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation.

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

Biochem Biophys Res Commun. 2005 Mar 25;328(4):1139-45.

PMID:
15707996

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