Turnbull DM - Search Results

1

Maternally inherited mitochondrial DNA disease in consanguineous families.

Alston CL, He L, Morris AA, Hughes I, de Goede C, Turnbull DM, McFarland R, Taylor RW. Alston CL, et al. Among authors: turnbull dm. Eur J Hum Genet. 2011 Dec;19(12):1226-9. doi: 10.1038/ejhg.2011.124. Epub 2011 Jun 29. Eur J Hum Genet. 2011. PMID: 21712854 Free PMC article.

2

Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study.

Lax NZ, Hepplewhite PD, Reeve AK, Nesbitt V, McFarland R, Jaros E, Taylor RW, Turnbull DM. Lax NZ, et al. Among authors: turnbull dm. J Neuropathol Exp Neurol. 2012 Feb;71(2):148-61. doi: 10.1097/NEN.0b013e318244477d. J Neuropathol Exp Neurol. 2012. PMID: 22249460 Free PMC article.

3

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.

McFarland R, Clark KM, Morris AA, Taylor RW, Macphail S, Lightowlers RN, Turnbull DM. McFarland R, et al. Among authors: turnbull dm. Nat Genet. 2002 Feb;30(2):145-6. doi: 10.1038/ng819. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799391

4

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

5

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.

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

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.

Maniura-Weber K, Taylor RW, Johnson MA, Chrzanowska-Lightowlers Z, Morris AA, Charlton CP, Turnbull DM, Bindoff LA. Maniura-Weber K, et al. Among authors: turnbull dm. Eur J Hum Genet. 2004 Jun;12(6):509-12. doi: 10.1038/sj.ejhg.5201185. Eur J Hum Genet. 2004. PMID: 15054399

8

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

9

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

McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM. McFarland R, et al. Among authors: turnbull dm. Trends Genet. 2004 Dec;20(12):591-6. doi: 10.1016/j.tig.2004.09.014. Trends Genet. 2004. PMID: 15522452 Review.

10

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.

Blakely EL, de Silva R, King A, Schwarzer V, Harrower T, Dawidek G, Turnbull DM, Taylor RW. Blakely EL, et al. Among authors: turnbull dm. Eur J Hum Genet. 2005 May;13(5):623-7. doi: 10.1038/sj.ejhg.5201363. Eur J Hum Genet. 2005. PMID: 15657614

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