What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?

by Hannah O'Keefe, Rachel Queen, Phillip Lord, Joanna L. Elson
Published 2019-12-01

Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications.

by Rachel A Queen, Jannetta S Steyn, Phillip Lord, Joanna L Elson
Published 2017-01-01

Mitochondrial complex activity in permeabilised cells of chronic fatigue syndrome patients using two cell types

by Cara Tomas, Audrey E. Brown, Julia L. Newton, Joanna L. Elson
Published 2019-03-01

The effect of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) severity on cellular bioenergetic function.

by Cara Tomas, Joanna L Elson, Victoria Strassheim, Julia L Newton, Mark Walker
Published 2020-01-01

New mtDNA Association Model, MutPred Variant Load, Suggests Individuals With Multiple Mildly Deleterious mtDNA Variants Are More Likely to Suffer From Atherosclerosis

by Agnieszka Piotrowska-Nowak, Joanna L. Elson, Joanna L. Elson, Agnieszka Sobczyk-Kopciol, Aleksandra Piwonska, Aleksandra Puch-Walczak, Wojciech Drygas, Rafal Ploski, Ewa Bartnik, Ewa Bartnik, Katarzyna Tonska
Published 2019-01-01

Correction: Cellular bioenergetics is impaired in patients with chronic fatigue syndrome.

by Cara Tomas, Audrey Brown, Victoria Strassheim, Joanna L Elson, Julia Newton, Philip Manning
Published 2018-01-01

Cellular bioenergetics is impaired in patients with chronic fatigue syndrome.

by Cara Tomas, Audrey Brown, Victoria Strassheim, Joanna L Elson, Julia Newton, Philip Manning
Published 2017-01-01

A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations

by Galya V. Klink, Hannah O’Keefe, Amrita Gogna, Georgii A. Bazykin, Joanna L. Elson
Published 2021-10-01

Strong purifying selection in transmission of mammalian mitochondrial DNA.

by James Bruce Stewart, Christoph Freyer, Joanna L Elson, Anna Wredenberg, Zekiye Cansu, Aleksandra Trifunovic, Nils-Göran Larsson
Published 2008-01-01

Habitual physical activity in mitochondrial disease.

by Shehnaz Apabhai, Grainne S Gorman, Laura Sutton, Joanna L Elson, Thomas Plötz, Douglass M Turnbull, Michael I Trenell
Published 2011-01-01

Deep-brain stimulation associates with improved microvascular integrity in the subthalamic nucleus in Parkinson's disease

by Ilse S. Pienaar, Cecilia Heyne Lee, Joanna L. Elson, Louisa McGuinness, Stephen M. Gentleman, Raj N. Kalaria, David T. Dexter
Published 2015-02-01

Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutation...

by Laura C Greaves, Joanna L Elson, Marco Nooteboom, John P Grady, Geoffrey A Taylor, Robert W Taylor, John C Mathers, Thomas B L Kirkwood, Doug M Turnbull
Published 2012-01-01

Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.

by Laura C Greaves, Marco Nooteboom, Joanna L Elson, Helen A L Tuppen, Geoffrey A Taylor, Daniel M Commane, Ramesh P Arasaradnam, Konstantin Khrapko, Robert W Taylor, Thomas B L Kirkwood, John C Mathers, Douglass M Turnbull
Published 2014-09-01