Turnbull DM - Search Results

1

The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells.

Blackwood JK, Whittaker RG, Blakely EL, Alston CL, Turnbull DM, Taylor RW. Blackwood JK, et al. Among authors: turnbull dm. Biochem Biophys Res Commun. 2010 Mar 19;393(4):740-5. doi: 10.1016/j.bbrc.2010.02.072. Epub 2010 Feb 18. Biochem Biophys Res Commun. 2010. PMID: 20171163

2

Leigh disease associated with a novel mitochondrial DNA ND5 mutation.

Taylor RW, Morris AA, Hutchinson M, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. Eur J Hum Genet. 2002 Feb;10(2):141-4. doi: 10.1038/sj.ejhg.5200773. Eur J Hum Genet. 2002. PMID: 11938446

3

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

He L, Chinnery PF, Durham SE, Blakely EL, Wardell TM, Borthwick GM, Taylor RW, Turnbull DM. He L, et al. Among authors: turnbull dm. Nucleic Acids Res. 2002 Jul 15;30(14):e68. doi: 10.1093/nar/gnf067. Nucleic Acids Res. 2002. PMID: 12136116 Free PMC article.

4

The neurology of mitochondrial DNA disease.

McFarland R, Taylor RW, Turnbull DM. McFarland R, et al. Among authors: turnbull dm. Lancet Neurol. 2002 Oct;1(6):343-51. doi: 10.1016/s1474-4422(02)00159-x. Lancet Neurol. 2002. PMID: 12849395 Review.

5

Genotypes from patients indicate no paternal mitochondrial DNA contribution.

Taylor RW, McDonnell MT, Blakely EL, Chinnery PF, Taylor GA, Howell N, Zeviani M, Briem E, Carrara F, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. Ann Neurol. 2003 Oct;54(4):521-4. doi: 10.1002/ana.10673. Ann Neurol. 2003. PMID: 14520666

6

The diagnosis of mitochondrial muscle disease.

Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. Neuromuscul Disord. 2004 Apr;14(4):237-45. doi: 10.1016/j.nmd.2003.12.004. Neuromuscul Disord. 2004. PMID: 15019701 Review.

7

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

McDonnell MT, Schaefer AM, Blakely EL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. McDonnell MT, et al. Among authors: turnbull dm. Eur J Hum Genet. 2004 Sep;12(9):778-81. doi: 10.1038/sj.ejhg.5201216. Eur J Hum Genet. 2004. PMID: 15199381

8

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

9

Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis.

Blakely EL, Rennie KJ, Jones L, Elstner M, Chrzanowska-Lightowlers ZM, White CB, Shield JP, Pilz DT, Turnbull DM, Poulton J, Taylor RW. Blakely EL, et al. Among authors: turnbull dm. Pediatr Res. 2006 Mar;59(3):440-4. doi: 10.1203/01.pdr.0000198771.78290.c4. Pediatr Res. 2006. PMID: 16492986

10

Investigation of the mitochondrial genome in patients with atypical motor neuron disease.

Phoenix C, Taylor GA, Hartley J, Nixon H, Ince PG, Shaw PJ, Turnbull DM, Taylor RW. Phoenix C, et al. Among authors: turnbull dm. J Neurol. 2007 Apr;254(4):482-7. doi: 10.1007/s00415-006-0399-1. Epub 2007 Mar 31. J Neurol. 2007. PMID: 17401521

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