Turnbull DM - Search Results

1

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.

Lim AZ, Ng YS, Blain A, Jiminez-Moreno C, Alston CL, Nesbitt V, Simmons L, Santra S, Wassmer E, Blakely EL, Turnbull DM, Taylor RW, Gorman GS, McFarland R. Lim AZ, et al. Among authors: turnbull dm. Ann Neurol. 2022 Jan;91(1):117-130. doi: 10.1002/ana.26260. Epub 2021 Nov 12. Ann Neurol. 2022. PMID: 34716721 Free PMC article.

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

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

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. 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.

5

The control of mitochondrial oxidations by complex III in rat muscle and liver mitochondria. Implications for our understanding of mitochondrial cytopathies in man.

Taylor RW, Birch-Machin MA, Bartlett K, Lowerson SA, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. J Biol Chem. 1994 Feb 4;269(5):3523-8. J Biol Chem. 1994. PMID: 8106394 Free article.

6

Defects of oxidative phosphorylation in man.

Taylor RW, Birch-Machin MA, Lowerson S, Sherratt HS, West IC, Bartlett K, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. Biochem Soc Trans. 1993 Aug;21 ( Pt 3)(3):804-7. doi: 10.1042/bst0210804. Biochem Soc Trans. 1993. PMID: 8224514 Review. No abstract available.

7

Cytochrome c oxidase activity in single muscle fibers: assay techniques and diagnostic applications.

Johnson MA, Bindoff LA, Turnbull DM. Johnson MA, et al. Among authors: turnbull dm. Ann Neurol. 1993 Jan;33(1):28-35. doi: 10.1002/ana.410330106. Ann Neurol. 1993. PMID: 8388186

8

Succinate-cytochrome c reductase: assessment of its value in the investigation of defects of the respiratory chain.

Taylor RW, Birch-Machin MA, Bartlett K, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. Biochim Biophys Acta. 1993 Jun 19;1181(3):261-5. doi: 10.1016/0925-4439(93)90030-5. Biochim Biophys Acta. 1993. PMID: 8391327

9

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. Among authors: turnbull dm. 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

10

Deficiency of respiratory chain complex I is a common cause of Leigh disease.

Morris AA, Leonard JV, Brown GK, Bidouki SK, Bindoff LA, Woodward CE, Harding AE, Lake BD, Harding BN, Farrell MA, Bell JE, Mirakhur M, Turnbull DM. Morris AA, et al. Among authors: turnbull dm. Ann Neurol. 1996 Jul;40(1):25-30. doi: 10.1002/ana.410400107. Ann Neurol. 1996. PMID: 8687187

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

600 results

Search Page