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Items: 1 to 20 of 170

1.

Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation.

Jacobs LJ, de Coo IF, Nijland JG, Galjaard RJ, Los FJ, Schoonderwoerd K, Niermeijer MF, Geraedts JP, Scholte HR, Smeets HJ.

Mol Hum Reprod. 2005 Mar;11(3):223-8. Epub 2005 Feb 11.

PMID:
15709156
2.

Mitochondrial dysfunction and type 2 diabetes.

Lowell BB, Shulman GI.

Science. 2005 Jan 21;307(5708):384-7.

PMID:
15662004
3.

Global burden of hypertension: analysis of worldwide data.

Kearney PM, Whelton M, Reynolds K, Muntner P, Whelton PK, He J.

Lancet. 2005 Jan 15-21;365(9455):217-23.

PMID:
15652604
4.

An Icelandic example of the impact of population structure on association studies.

Helgason A, Yngvadóttir B, Hrafnkelsson B, Gulcher J, Stefánsson K.

Nat Genet. 2005 Jan;37(1):90-5. Epub 2004 Dec 19.

PMID:
15608637
5.

MITOMAP: a human mitochondrial genome database--2004 update.

Brandon MC, Lott MT, Nguyen KC, Spolim S, Navathe SB, Baldi P, Wallace DC.

Nucleic Acids Res. 2005 Jan 1;33(Database issue):D611-3.

6.

Discovery of a major D-loop replication origin reveals two modes of human mtDNA synthesis.

Fish J, Raule N, Attardi G.

Science. 2004 Dec 17;306(5704):2098-101.

7.

The transcription machinery in mammalian mitochondria.

Gaspari M, Larsson NG, Gustafsson CM.

Biochim Biophys Acta. 2004 Dec 6;1659(2-3):148-52. Review.

8.

The epidemiology of mitochondrial disorders--past, present and future.

Schaefer AM, Taylor RW, Turnbull DM, Chinnery PF.

Biochim Biophys Acta. 2004 Dec 6;1659(2-3):115-20. Review.

9.

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.

Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, Newbold RF, Trijbels FJ, van den Heuvel LP, Shoubridge EA, Smeitink JA.

N Engl J Med. 2004 Nov 11;351(20):2080-6.

10.

The mitochondrial RNA polymerase contributes critically to promoter specificity in mammalian cells.

Gaspari M, Falkenberg M, Larsson NG, Gustafsson CM.

EMBO J. 2004 Nov 24;23(23):4606-14. Epub 2004 Nov 4.

11.

Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough.

McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM.

Trends Genet. 2004 Dec;20(12):591-6. Review.

PMID:
15522452
12.

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.

Miller C, Saada A, Shaul N, Shabtai N, Ben-Shalom E, Shaag A, Hershkovitz E, Elpeleg O.

Ann Neurol. 2004 Nov;56(5):734-8.

PMID:
15505824
13.

A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.

Wilson FH, Hariri A, Farhi A, Zhao H, Petersen KF, Toka HR, Nelson-Williams C, Raja KM, Kashgarian M, Shulman GI, Scheinman SJ, Lifton RP.

Science. 2004 Nov 12;306(5699):1190-4. Epub 2004 Oct 21.

14.

Heterologous mitochondrial DNA recombination in human cells.

D'Aurelio M, Gajewski CD, Lin MT, Mauck WM, Shao LZ, Lenaz G, Moraes CT, Manfredi G.

Hum Mol Genet. 2004 Dec 15;13(24):3171-9. Epub 2004 Oct 20.

PMID:
15496432
15.

Mutations of the mitochondrial ND1 gene as a cause of MELAS.

Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW.

J Med Genet. 2004 Oct;41(10):784-9. No abstract available.

16.

Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells.

Santra S, Gilkerson RW, Davidson M, Schon EA.

Ann Neurol. 2004 Nov;56(5):662-9.

PMID:
15389892
17.

Mitochondrial disorders.

Zeviani M, Di Donato S.

Brain. 2004 Oct;127(Pt 10):2153-72. Epub 2004 Sep 9. Review. Erratum in: Brain. 2004 Dec;127(Pt 12):2783.

PMID:
15358637
18.

Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells.

Kolesnikova OA, Entelis NS, Jacquin-Becker C, Goltzene F, Chrzanowska-Lightowlers ZM, Lightowlers RN, Martin RP, Tarassov I.

Hum Mol Genet. 2004 Oct 15;13(20):2519-34. Epub 2004 Aug 18.

PMID:
15317755
19.

Risk of developing a mitochondrial DNA deletion disorder.

Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM.

Lancet. 2004 Aug 14-20;364(9434):592-6.

PMID:
15313359
20.

Analysis of European mitochondrial haplogroups with Alzheimer disease risk.

van der Walt JM, Dementieva YA, Martin ER, Scott WK, Nicodemus KK, Kroner CC, Welsh-Bohmer KA, Saunders AM, Roses AD, Small GW, Schmechel DE, Murali Doraiswamy P, Gilbert JR, Haines JL, Vance JM, Pericak-Vance MA.

Neurosci Lett. 2004 Jul 15;365(1):28-32.

PMID:
15234467

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