Turnbull DM - Search Results

1

Random genetic drift determines the level of mutant mtDNA in human primary oocytes.

Brown DT, Samuels DC, Michael EM, Turnbull DM, Chinnery PF. Brown DT, et al. Am J Hum Genet. 2001 Feb;68(2):533-6. doi: 10.1086/318190. Epub 2000 Dec 29. Am J Hum Genet. 2001. PMID: 11133360 Free PMC article.

2

Familial intermittent ataxia due to a defect of the E1 component of pyruvate dehydrogenase complex.

Bindoff LA, Birch-Machin MA, Farnsworth L, Gardner-Medwin D, Lindsay JG, Turnbull DM. Bindoff LA, et al. J Neurol Sci. 1989 Nov;93(2-3):311-8. doi: 10.1016/0022-510x(89)90200-1. J Neurol Sci. 1989. PMID: 2592988

3

Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain.

Morris AA, Taylor RW, Birch-Machin MA, Jackson MJ, Coulthard MG, Bindoff LA, Welch RJ, Howell N, Turnbull DM. Morris AA, et al. Pediatr Nephrol. 1995 Aug;9(4):407-11. doi: 10.1007/BF00866711. Pediatr Nephrol. 1995. PMID: 7577396

4

Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12.

Morris AA, Taylor RW, Lightowlers RN, Aynsley-Green A, Bartlett K, Turnbull DM. Morris AA, et al. Hum Mol Genet. 1995 Apr;4(4):747-9. doi: 10.1093/hmg/4.4.747. Hum Mol Genet. 1995. PMID: 7633427 No abstract available.

5

Gene therapy for mitochondrial DNA defects: is it possible?

Chrzanowska-Lightowlers ZM, Lightowlers RN, Turnbull DM. Chrzanowska-Lightowlers ZM, et al. Gene Ther. 1995 Jul;2(5):311-6. Gene Ther. 1995. PMID: 7671106 Review.

6

The investigation of mitochondrial respiratory chain disease.

Morris AA, Jackson MJ, Bindoff LA, Turnbull DM. Morris AA, et al. J R Soc Med. 1995 Apr;88(4):217P-222P. J R Soc Med. 1995. PMID: 7745569 Free PMC article. No abstract available.

7

Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.

Jackson MJ, Bindoff LA, Weber K, Wilson JN, Ince P, Alberti KG, Turnbull DM. Jackson MJ, et al. Diabetes Care. 1994 Jul;17(7):728-33. doi: 10.2337/diacare.17.7.728. Diabetes Care. 1994. PMID: 7924787

8

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism.

Bindoff LA, Howell N, Poulton J, McCullough DA, Morten KJ, Lightowlers RN, Turnbull DM, Weber K. Bindoff LA, et al. J Biol Chem. 1993 Sep 15;268(26):19559-64. J Biol Chem. 1993. PMID: 8366098

9

Normal respiratory chain function in patients with low-tension glaucoma.

Brierley EJ, Griffiths PG, Weber K, Johnson MA, Turnbull DM. Brierley EJ, et al. Arch Ophthalmol. 1996 Feb;114(2):142-6. doi: 10.1001/archopht.1996.01100130136003. Arch Ophthalmol. 1996. PMID: 8573015

10

Human insulin receptor substrate-1: variant sequences in familial non-insulin-dependent diabetes mellitus.

Armstrong M, Haldane F, Taylor RW, Humphriss D, Berrish T, Stewart MW, Turnbull DM, Alberti KG, Walker M. Armstrong M, et al. Diabet Med. 1996 Feb;13(2):133-8. doi: 10.1002/(SICI)1096-9136(199602)13:2<133::AID-DIA7>3.0.CO;2-2. Diabet Med. 1996. PMID: 8641117

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