Turnbull DM - Search Results

1

Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.

Lax NZ, Gnanapavan S, Dowson SJ, Alston CL, He L, Polvikoski TM, Jaros E, O'Donovan DG, Yarham JW, Turnbull DM, Dean AF, Taylor RW. Lax NZ, et al. Among authors: turnbull dm. J Neuropathol Exp Neurol. 2013 Feb;72(2):164-75. doi: 10.1097/NEN.0b013e31828129c5. J Neuropathol Exp Neurol. 2013. PMID: 23334599

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

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.

4

A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.

Blakely EL, Trip SA, Swalwell H, He L, Wren DR, Rich P, Turnbull DM, Omer SE, Taylor RW. Blakely EL, et al. Among authors: turnbull dm. Arch Neurol. 2009 Mar;66(3):399-402. doi: 10.1001/archneurol.2008.576. Arch Neurol. 2009. PMID: 19273760

5

A neurological perspective on mitochondrial disease.

McFarland R, Taylor RW, Turnbull DM. McFarland R, et al. Among authors: turnbull dm. Lancet Neurol. 2010 Aug;9(8):829-40. doi: 10.1016/S1474-4422(10)70116-2. Lancet Neurol. 2010. PMID: 20650404 Review.

6

A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.

Alston CL, Lowe J, Turnbull DM, Maddison P, Taylor RW. Alston CL, et al. Among authors: turnbull dm. J Neurol Sci. 2010 Nov 15;298(1-2):140-4. doi: 10.1016/j.jns.2010.08.014. J Neurol Sci. 2010. PMID: 20810132

7

The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.

Yarham JW, Blakely EL, Alston CL, Roberts ME, Ealing J, Pal P, Turnbull DM, McFarland R, Taylor RW. Yarham JW, et al. Among authors: turnbull dm. J Neurol Sci. 2013 Feb 15;325(1-2):165-9. doi: 10.1016/j.jns.2012.12.003. Epub 2012 Dec 27. J Neurol Sci. 2013. PMID: 23273904 Free PMC article.

8

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.

Alston CL, Schaefer AM, Raman P, Solaroli N, Krishnan KJ, Blakely EL, He L, Craig K, Roberts M, Vyas A, Nixon J, Horvath R, Turnbull DM, Karlsson A, Gorman GS, Taylor RW. Alston CL, et al. Among authors: turnbull dm. Neurology. 2013 Dec 3;81(23):2051-3. doi: 10.1212/01.wnl.0000436931.94291.e6. Epub 2013 Nov 6. Neurology. 2013. PMID: 24198295 Free PMC article.

9

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

10

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

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