Turnbull DM - Search Results

1

Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.

Taylor RW, Singh-Kler R, Hayes CM, Smith PE, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. Ann Neurol. 2001 Jul;50(1):104-7. doi: 10.1002/ana.1084. Ann Neurol. 2001. PMID: 11456298

2

Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets.

Taylor RW, Jackson S, Pourfarzam M, Bartlett K, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. J Inherit Metab Dis. 1992;15(5):727-32. doi: 10.1007/BF01800014. J Inherit Metab Dis. 1992. PMID: 1434512

3

Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.

Bindoff LA, Desnuelle C, Birch-Machin MA, Pellissier JF, Serratrice G, Dravet C, Bureau M, Howell N, Turnbull DM. Bindoff LA, et al. Among authors: turnbull dm. J Neurol Sci. 1991 Mar;102(1):17-24. doi: 10.1016/0022-510x(91)90088-o. J Neurol Sci. 1991. PMID: 1649912 Review.

4

Deficiency of the pyruvate dehydrogenase complex and of mitochondrial fatty acid oxidation.

Bindoff LA, Birch-Machin MA, Jackson S, Singh Kler R, Bartlett K, Turnbull DM. Bindoff LA, et al. Among authors: turnbull dm. Rev Neurol (Paris). 1991;147(6-7):526-31. Rev Neurol (Paris). 1991. PMID: 1962058 Review.

5

Absence of immunoreactive enzyme protein in short-chain acylcoenzyme A dehydrogenase deficiency.

Farnsworth L, Shepherd IM, Johnson MA, Bindoff LA, Turnbull DM. Farnsworth L, et al. Among authors: turnbull dm. Ann Neurol. 1990 Nov;28(5):717-20. doi: 10.1002/ana.410280520. Ann Neurol. 1990. PMID: 2260861

6

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. Among authors: turnbull dm. Pediatr Nephrol. 1995 Aug;9(4):407-11. doi: 10.1007/BF00866711. Pediatr Nephrol. 1995. PMID: 7577396

7

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. Among authors: turnbull dm. 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.

8

Gene therapy for mitochondrial DNA defects: is it possible?

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

9

Insulin sensitivity and mitochondrial gene mutation.

Walker M, Taylor RW, Stewart MW, Bindoff LA, Jackson MJ, Alberti GK, Turnbull DM. Walker M, et al. Among authors: turnbull dm. Diabetes Care. 1995 Feb;18(2):273-5. doi: 10.2337/diacare.18.2.273. Diabetes Care. 1995. PMID: 7729311 No abstract available.

10

Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients.

Jackson MJ, Schaefer JA, Johnson MA, Morris AA, Turnbull DM, Bindoff LA. Jackson MJ, et al. Among authors: turnbull dm. Brain. 1995 Apr;118 ( Pt 2):339-57. doi: 10.1093/brain/118.2.339. Brain. 1995. PMID: 7735877

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

602 results

Search Page

Filters