Turnbull DM - Search Results

1

Biochemical assays of respiratory chain complex activity.

Kirby DM, Thorburn DR, Turnbull DM, Taylor RW. Kirby DM, et al. Among authors: turnbull dm. Methods Cell Biol. 2007;80:93-119. doi: 10.1016/S0091-679X(06)80004-X. Methods Cell Biol. 2007. PMID: 17445690 Review. No abstract available.

2

Mitochondrial DNA transcription: regulating the power supply.

Taylor RW, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. Cell. 2007 Jul 27;130(2):211-3. doi: 10.1016/j.cell.2007.07.002. Cell. 2007. PMID: 17662933 Free article.

3

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR. Swalwell H, et al. Among authors: turnbull dm. Eur J Hum Genet. 2011 Jul;19(7):769-75. doi: 10.1038/ejhg.2011.18. Epub 2011 Mar 2. Eur J Hum Genet. 2011. PMID: 21364701 Free PMC article.

4

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.

McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR. McFarland R, et al. Among authors: turnbull dm. Ann Neurol. 2004 Jan;55(1):58-64. doi: 10.1002/ana.10787. Ann Neurol. 2004. PMID: 14705112

5

A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis.

McFarland R, Taylor RW, Chinnery PF, Howell N, Turnbull DM. McFarland R, et al. Among authors: turnbull dm. Neuromuscul Disord. 2004 Feb;14(2):162-6. doi: 10.1016/j.nmd.2003.10.011. Neuromuscul Disord. 2004. PMID: 14733964

6

Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis.

Schaefer AM, Blakely EL, Griffiths PG, Turnbull DM, Taylor RW. Schaefer AM, et al. Among authors: turnbull dm. Muscle Nerve. 2005 Jul;32(1):104-7. doi: 10.1002/mus.20319. Muscle Nerve. 2005. PMID: 15795893

7

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast.

Blakely EL, Mitchell AL, Fisher N, Meunier B, Nijtmans LG, Schaefer AM, Jackson MJ, Turnbull DM, Taylor RW. Blakely EL, et al. Among authors: turnbull dm. FEBS J. 2005 Jul;272(14):3583-92. doi: 10.1111/j.1742-4658.2005.04779.x. FEBS J. 2005. PMID: 16008558 Free article.

8

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Swalwell H, Blakely EL, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns DK, Turnbull DM, Haller RG, Davidson MM, Taylor RW. Swalwell H, et al. Among authors: turnbull dm. Eur J Hum Genet. 2008 Oct;16(10):1265-74. doi: 10.1038/ejhg.2008.65. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398437

9

Detection of mitochondrial DNA variation in human cells.

Krishnan KJ, Blackwood JK, Reeve AK, Turnbull DM, Taylor RW. Krishnan KJ, et al. Among authors: turnbull dm. Methods Mol Biol. 2010;628:227-57. doi: 10.1007/978-1-60327-367-1_13. Methods Mol Biol. 2010. PMID: 20238085

10

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.

Tuppen HA, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He L, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW. Tuppen HA, et al. Among authors: turnbull dm. Mol Genet Metab. 2010 Aug;100(4):345-8. doi: 10.1016/j.ymgme.2010.04.010. Epub 2010 Apr 24. Mol Genet Metab. 2010. PMID: 20472482

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

602 results

Search Page

Filters