Turnbull DM - Search Results

1

When to think about mitochondrial disease.

Ng YS, Turnbull DM. Ng YS, et al. Among authors: turnbull dm. Pract Neurol. 2020 Aug;20(4):260-261. doi: 10.1136/practneurol-2020-002501. Epub 2020 Jul 17. Pract Neurol. 2020. PMID: 32680831 No abstract available.

2

A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia.

Chinnery PF, Johnson MA, Taylor RW, Durward WF, Turnbull DM. Chinnery PF, et al. Among authors: turnbull dm. Neurology. 1997 Oct;49(4):1166-8. doi: 10.1212/wnl.49.4.1166. Neurology. 1997. PMID: 9339712

3

Diagnosis of mitochondrial disease: assessment of mitochondrial DNA heteroplasmy in blood.

Taylor RW, Taylor GA, Morris CM, Edwardson JM, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. Biochem Biophys Res Commun. 1998 Oct 29;251(3):883-7. doi: 10.1006/bbrc.1998.9553. Biochem Biophys Res Commun. 1998. PMID: 9791004

4

Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies.

Chinnery PF, Taylor GA, Howell N, Andrews RM, Morris CM, Taylor RW, McKeith IG, Perry RH, Edwardson JA, Turnbull DM. Chinnery PF, et al. Among authors: turnbull dm. Neurology. 2000 Jul 25;55(2):302-4. doi: 10.1212/wnl.55.2.302. Neurology. 2000. PMID: 10908912

5

The epidemiology of pathogenic mitochondrial DNA mutations.

Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM. Chinnery PF, et al. Among authors: turnbull dm. Ann Neurol. 2000 Aug;48(2):188-93. Ann Neurol. 2000. PMID: 10939569

6

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J, Applegarth DA, Turnbull DM, Howell N. Chinnery PF, et al. Among authors: turnbull dm. Brain. 2001 Jan;124(Pt 1):209-18. doi: 10.1093/brain/124.1.209. Brain. 2001. PMID: 11133798

7

Current perspectives in the treatment of mitochondrial DNA diseases.

Turnbull DM, Lightowlers RN, Taylor RW. Turnbull DM, et al. Funct Neurol. 2001;16(4 Suppl):89-96. Funct Neurol. 2001. PMID: 11996536 Review. No abstract available.

8

NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy.

Yu-Wai-Man P, Brown DT, Wehnert MS, Zeviani M, Carrara F, Turnbull DM, Chinnery PF. Yu-Wai-Man P, et al. Among authors: turnbull dm. Neurology. 2002 Jun 25;58(12):1861-2. doi: 10.1212/wnl.58.12.1861. Neurology. 2002. PMID: 12084895 No abstract available.

9

Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA.

Deschauer M, Bamberg C, Claus D, Zierz S, Turnbull DM, Taylor RW. Deschauer M, et al. Among authors: turnbull dm. Neurology. 2003 Apr 22;60(8):1357-9. doi: 10.1212/01.wnl.0000055869.99975.4b. Neurology. 2003. PMID: 12707444

10

Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.

Taylor RW, Schaefer AM, McDonnell MT, Petty RK, Thomas AM, Blakely EL, Hayes CM, McFarland R, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. Neurology. 2004 Apr 27;62(8):1420-3. doi: 10.1212/01.wnl.0000120667.77372.46. Neurology. 2004. PMID: 15111688

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