Emma L Blakely
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Explore the profile of Emma L Blakely including associated specialties, affiliations and a list of published articles.
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99
Citations
3379
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Recent Articles
1.
Vila-Sanjurjo A, Mallo N, Elson J, Smith P, Blakely E, Taylor R
Front Physiol
. 2023 Jun;
14():1163496.
PMID: 37362424
The last few years have witnessed dramatic advances in our understanding of the structure and function of the mammalian mito-ribosome. At the same time, the first attempts to elucidate the...
2.
Elwan M, Schaefer A, Craig K, Hopton S, Falkous G, Blakely E, et al.
BMJ Neurol Open
. 2022 Dec;
4(2):e000352.
PMID: 36518302
Background: Mitochondrial disorders are known to cause diverse neurological phenotypes which cause a diagnostic challenge to most neurologists. Pathogenic polymerase gamma () variants have been described as a cause of...
3.
Mavraki E, Labrum R, Sergeant K, Alston C, Woodward C, Smith C, et al.
Eur J Hum Genet
. 2022 Dec;
31(2):148-163.
PMID: 36513735
Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders characterised by impaired oxidative phosphorylation. Diagnosis is challenging; >350 genes, both nuclear and mitochondrial DNA (mtDNA) encoded, are known to...
4.
Shintaku J, Pernice W, Eyaid W, Gc J, Brown Z, Juanola-Falgarona M, et al.
J Clin Invest
. 2022 May;
132(13).
PMID: 35617047
Mitochondrial DNA (mtDNA) depletion/deletions syndromes (MDDS) encompass a clinically and etiologically heterogenous group of mitochondrial disorders caused by impaired mtDNA maintenance. Among the most frequent causes of MDDS are defects...
5.
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...
6.
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...
7.
Baty K, Farrugia M, Hopton S, Falkous G, Schaefer A, Stewart W, et al.
Neuromuscul Disord
. 2021 Jul;
31(11):1186-1193.
PMID: 34325999
Pathogenic variants in mitochondrial DNA (mtDNA) are associated with significant clinical heterogeneity with neuromuscular involvement commonly reported. Non-syndromic presentations of mtDNA disease continue to pose a diagnostic challenge and with...
8.
Horga A, Manole A, Mitchell A, Bugiardini E, Hargreaves I, Mowafi W, et al.
Mol Biol Rep
. 2021 Mar;
48(3):2093-2104.
PMID: 33742325
Mutations in nuclear-encoded protein subunits of the mitochondrial ribosome are an increasingly recognised cause of oxidative phosphorylation system (OXPHOS) disorders. Among them, mutations in the MRPL44 gene, encoding a structural...
9.
Olahova M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville E, et al.
Nat Commun
. 2021 Feb;
12(1):1135.
PMID: 33602924
While >300 disease-causing variants have been identified in the mitochondrial DNA (mtDNA) polymerase γ, no mitochondrial phenotypes have been associated with POLRMT, the RNA polymerase responsible for transcription of the...
10.
Lujan S, Longley M, Humble M, Lavender C, Burkholder A, Blakely E, et al.
Genome Biol
. 2020 Sep;
21(1):248.
PMID: 32943091
Background: Acquired human mitochondrial genome (mtDNA) deletions are symptoms and drivers of focal mitochondrial respiratory deficiency, a pathological hallmark of aging and late-onset mitochondrial disease. Results: To decipher connections between...