Turnbull DM - Search Results

1

So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.

Beresford MW, Pourfarzam M, Turnbull DM, Davidson JE. Beresford MW, et al. Among authors: turnbull dm. Neuromuscul Disord. 2006 Apr;16(4):269-73. doi: 10.1016/j.nmd.2006.01.001. Epub 2006 Mar 9. Neuromuscul Disord. 2006. PMID: 16527485

2

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

Olpin SE, Afifi A, Clark S, Manning NJ, Bonham JR, Dalton A, Leonard JV, Land JM, Andresen BS, Morris AA, Muntoni F, Turnbull D, Pourfarzam M, Rahman S, Pollitt RJ. Olpin SE, et al. J Inherit Metab Dis. 2003;26(6):543-57. doi: 10.1023/a:1025947930752. J Inherit Metab Dis. 2003. PMID: 14605500

3

A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction.

Olkhova EA, Bradshaw C, Blain A, Alvim D, Turnbull DM, LeBeau FEN, Ng YS, Gorman GS, Lax NZ. Olkhova EA, et al. Among authors: turnbull dm. Commun Biol. 2023 Oct 23;6(1):1078. doi: 10.1038/s42003-023-05238-7. Commun Biol. 2023. PMID: 37872380 Free PMC article.

4

Uncoupling of energy production.

Ng YS, Turnbull DM. Ng YS, et al. Among authors: turnbull dm. Cell Metab. 2022 Dec 6;34(12):1901-1903. doi: 10.1016/j.cmet.2022.11.008. Cell Metab. 2022. PMID: 36476932 Free article.

5

Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline.

Franco M, Pickett SJ, Fleischmann Z, Khrapko M, Cote-L'Heureux A, Aidlen D, Stein D, Markuzon N, Popadin K, Braverman M, Woods DC, Tilly JL, Turnbull DM, Khrapko K. Franco M, et al. Among authors: turnbull dm. Hum Mol Genet. 2022 Nov 28;31(23):4075-4086. doi: 10.1093/hmg/ddac149. Hum Mol Genet. 2022. PMID: 35849052 Free PMC article.

6

Endocrine Manifestations and New Developments in Mitochondrial Disease.

Ng YS, Lim AZ, Panagiotou G, Turnbull DM, Walker M. Ng YS, et al. Among authors: turnbull dm. Endocr Rev. 2022 May 12;43(3):583-609. doi: 10.1210/endrev/bnab036. Endocr Rev. 2022. PMID: 35552684 Free PMC article.

7

Using Foucault to (re)think localisation in chronic disease care: Insights for nursing practice.

Turnbull DM, Reich A. Turnbull DM, et al. Nurs Philos. 2023 Jan;24(1):e12392. doi: 10.1111/nup.12392. Epub 2022 Apr 23. Nurs Philos. 2023. PMID: 35462460

8

Automated quantitative high-throughput multiplex immunofluorescence pipeline to evaluate OXPHOS defects in formalin-fixed human prostate tissue.

Sachdeva A, Hart CA, Carey CD, Vincent AE, Greaves LC, Heer R, Oliveira P, Brown MD, Clarke NW, Turnbull DM. Sachdeva A, et al. Among authors: turnbull dm. Sci Rep. 2022 Apr 22;12(1):6660. doi: 10.1038/s41598-022-10588-z. Sci Rep. 2022. PMID: 35459777 Free PMC article.

9

A subcellular cookie cutter for spatial genomics in human tissue.

Bury AG, Pyle A, Marcuccio F, Turnbull DM, Vincent AE, Hudson G, Actis P. Bury AG, et al. Among authors: turnbull dm. Anal Bioanal Chem. 2022 Jul;414(18):5483-5492. doi: 10.1007/s00216-022-03944-5. Epub 2022 Mar 2. Anal Bioanal Chem. 2022. PMID: 35233697 Free PMC article.

10

Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry.

Hipps D, Dobson PF, Warren C, McDonald D, Fuller A, Filby A, Bulmer D, Laude A, Russell O, Deehan DJ, Turnbull DM, Lawless C. Hipps D, et al. Among authors: turnbull dm. Bone. 2022 May;158:116371. doi: 10.1016/j.bone.2022.116371. Epub 2022 Feb 19. Bone. 2022. PMID: 35192969 Free article.

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