Doug M Turnbull
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Explore the profile of Doug M Turnbull including associated specialties, affiliations and a list of published articles.
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141
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5548
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Recent Articles
11.
Ng Y, Lax N, Blain A, Erskine D, Baker M, Polvikoski T, et al.
Brain
. 2021 Dec;
145(2):542-554.
PMID: 34927673
In this retrospective, multicentre, observational cohort study, we sought to determine the clinical, radiological, EEG, genetics and neuropathological characteristics of mitochondrial stroke-like episodes and to identify associated risk predictors. Between...
12.
Smedley D, Smith K, Martin A, Thomas E, McDonagh E, Cipriani V, et al.
N Engl J Med
. 2021 Nov;
385(20):1868-1880.
PMID: 34758253
Background: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of...
13.
Lim A, Ng Y, Blain A, Jiminez-Moreno C, Alston C, Nesbitt V, et al.
Ann Neurol
. 2021 Oct;
91(1):117-130.
PMID: 34716721
Objective: This observational cohort study aims to quantify disease burden over time, establish disease progression rates, and identify factors that may determine the disease course of Leigh syndrome. Methods: Seventy-two...
14.
Zhang L, Rai P, Miwa S, Draman M, Aled Rees D, Haridas A, et al.
Endocrinology
. 2021 Sep;
162(12).
PMID: 34473251
Context: Depot-specific expansion of orbital adipose tissue (OAT) in Graves orbitopathy (GO; an autoimmune condition producing proptosis, visual impairment and reduced quality of life) is associated with fatty acid (FA)-uptake-driven...
15.
Bernardino Gomes T, Ng Y, Pickett S, Turnbull D, Vincent A
Hum Mol Genet
. 2021 Jun;
30(R2):R245-R253.
PMID: 34169319
Mitochondrial DNA (mtDNA) disorders are recognized as one of the most common causes of inherited metabolic disorders. The mitochondrial genome occurs in multiple copies resulting in both homoplasmic and heteroplasmic...
16.
Ng Y, Bindoff L, Gorman G, Klopstock T, Kornblum C, Mancuso M, et al.
Lancet Neurol
. 2021 Jun;
20(7):573-584.
PMID: 34146515
Mitochondrial diseases are some of the most common inherited neurometabolic disorders, and major progress has been made in our understanding, diagnosis, and treatment of these conditions in the past 5...
17.
Chen C, McDonald D, Blain A, Sachdeva A, Bone L, Smith A, et al.
NPJ Parkinsons Dis
. 2021 May;
7(1):39.
PMID: 33980828
Here we report the application of a mass spectrometry-based technology, imaging mass cytometry, to perform in-depth proteomic profiling of mitochondrial complexes in single neurons, using metal-conjugated antibodies to label post-mortem...
18.
Braz L, Ng Y, Gorman G, Schaefer A, McFarland R, Taylor R, et al.
Neurol Clin Pract
. 2021 Apr;
11(2):97-104.
PMID: 33842062
Objective: To determine the prevalence of neuromuscular junction (NMJ) abnormalities in patients with mitochondrial disease. Methods: Eighty patients with genetically proven mitochondrial disease were recruited from a national center for...
19.
Bury A, Vincent A, Turnbull D, Actis P, Hudson G
Wellcome Open Res
. 2021 Mar;
5:226.
PMID: 33718619
Mitochondrial vitality is critical to cellular function, with mitochondrial dysfunction linked to a growing number of human diseases. Tissue and cellular heterogeneity, in terms of genetics, dynamics and function means...
20.
Stamp C, Whitehall J, Smith A, Houghton D, Bradshaw C, Stoll E, et al.
Aging Cell
. 2021 Feb;
20(3):e13321.
PMID: 33626245
One of the hallmarks of aging is an accumulation of cells with defects in oxidative phosphorylation (OXPHOS) due to mutations of mitochondrial DNA (mtDNA). Rapidly dividing tissues maintained by stem...