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Browsing publications by Dr Joanna Elson.

Newcastle AuthorsTitleYearFull text
Dr Kamilla Mahkamova
Dr Joanna Elson
ISHA Karnik
Rachel Sutherland
Seb Aspinall
et al.
Impact of transforming growth factor beta 1 on normal and thyroid cancer side population cells2022
Hannah O'Keefe
Dr Joanna Elson
A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations2021
Dr Joanna Elson
Heterologous Inferential Analysis (HIA) and Other Emerging Concepts: In Understanding Mitochondrial Variation In Pathogenesis: There is no More Low-Hanging Fruit2021
Dr Ilse Pienaar
Dr Joanna Elson
Investigation of the Correlation Between Mildly Deleterious mtDNA Variations and the Clinical Progression of Multiple Sclerosis2021
Dr Joanna Elson
Single-Cell Approaches for Studying the Role of Mitochondrial DNA in Neurodegenerative Disease2021
Dr Joanna Elson
Dr Ilse Pienaar
Design and evaluation of bi-functional iron chelators for protection of dopaminergic neurons from toxicants2020
Dr Joanna Elson
DREADD Activation of Pedunculopontine Cholinergic Neurons Reverses Motor Deficits and Restores Striatal Dopamine Signaling in Parkinsonian Rats2020
Dr Joanna Elson
Evolutionary dissection of mtDNA hgH - a susceptibility factor for hypertrophic cardiomyopathy2020
Dr Joanna Elson
Professor Robert Taylor
Mitochondrial DNA mutations induce mitochondrial biogenesis and increase the tumorigenic potential of Hodgkin and Reed–Sternberg cells2020
Dr Joanna Elson
Dr Meera Soundararajan
Dr Ilse Pienaar
Novel 1-hydroxypyridin-2-one metal chelators prevent and rescue ubiquitin proteasomal-related neuronal injury in an in vitro model of Parkinson’s disease2020
Dr Cara Tomas-Smith
Dr Joanna Elson
Professor Julia Newton
Professor Mark Walker
Substrate utilisation of cultured skeletal muscle cells in patients with CFS2020
Dr Cara Tomas
Dr Joanna Elson
Vicki Strassheim
Professor Julia Newton
Professor Mark Walker
et al.
The effect of myalgic encephalomyelitis/ chronic fatigue syndrome (ME/CFS) severity on cellular bioenergetic function2020
Hannah O'Keefe
Dr Rachel Queen
Dr Phillip Lord
Dr Joanna Elson
What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?2020
Dr Cara Tomas
Dr Joanna Elson
A new approach to find biomarkers in chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) by single-cell Raman micro-spectroscopy2019
Dr Joanna Elson
Altered motor, anxiety-related and attentional task performance at baseline associate with multiple gene copies of the vesicular acetylcholine transporter and related protein overexpression in ChAT::Cre+ rats2019
Dr Cara Tomas
Dr Joanna Elson
Professor Julia Newton
Assessing cellular energy dysfunction in CFS/ME using a commercially available laboratory test2019
Dr Joanna Elson
Implementing a new variant load model to investigate the role of mtDNA in oxidative stress and inflammation in a bi-ethnic cohort: the SABPA study2019
Dr Cara Tomas
Dr Audrey Brown
Professor Julia Newton
Dr Joanna Elson
Mitochondrial complex activity in permeabilised cells of chronic fatigue syndrome patients using two cell types2019
Dr Cara Tomas
Dr Ilse Pienaar
Vicki Strassheim
Professor Fai Ng
Professor Julia Newton
et al.
MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants2019
Dr Joanna Elson
New mtDNA association model, MutPred variant load, suggests individuals with multiple mildly deleterious mtDNA variants are more likely to suffer from atherosclerosis2019
Dr Joanna Elson
Professor Francois van der Westhuizen
Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease2019
Dr Cara Tomas
Dr Joanna Elson
The role of mitochondria in ME/CFS: a perspective2019
Rebecca Brennan
Dr Ilse Pienaar
Professor Francois van der Westhuizen
Dr Joanna Elson
The unresolved role of mitochondrial DNA in Parkinson's disease: An overview of published studies, their limitations, and future prospects2019
Hannah O'Keefe
Dr Rachel Queen
Dr Phillip Lord
Dr Joanna Elson
Haplogroup Context is Less Important in the Penetrance of Mitochondrial DNA Complex I Mutations Compared to mt-tRNA Mutations2018
Dr Joanna Elson
Dr Ilse Pienaar
Temporal-Spatial Profiling of Pedunculopontine Galanin-Cholinergic Neurons in the Lactacystin Rat Model of Parkinson’s Disease2018
Dr Joanna Elson
The aetiology of cardiovascular disease: A role for mitochondrial DNA?2018
Dr Cara Tomas
Dr Audrey Brown
Vicki Strassheim
Dr Joanna Elson
Professor Julia Newton
et al.
Cellular bioenergetics is impaired in patients with chronic fatigue syndrome2017
Charlotte Knowles
Professor Fai Ng
Professor Robert Taylor
Professor Julia Newton
Dr Joanna Elson
et al.
Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome2017
Dr Ilse Pienaar
Dr Joanna Elson
Mildly deleterious mitochondrial DNA variants are less frequent in healthy older individuals, but not more prevalent in Alzheimer’s patients2017
Alex Bury
Dr Angela Pyle
Dr Joanna Elson
Dr Laura Greaves
Dr Christopher Morris
et al.
Mitochondrial DNA changes in pedunculopontine cholinergic neurons in Parkinson disease2017
Dr Rachel Queen
Dr Jannetta Steyn
Dr Phillip Lord
Dr Joanna Elson
Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications2017
Dr Ilse Pienaar
Dr Joanna Elson
MutPred mutational load analysis shows mildly deleterious mitochondrial DNA variants are not more prevalent in Alzheimer's patients, but may be under-represented in healthy older individuals2017
Dr Joanna Elson
Professor Francois van der Westhuizen
Using MutPred derived mtDNA load scores to evaluate mtDNA variation in hypertension and diabetes in a two-population cohort: The SABPA study2017
Dr Joanna Elson
Could we offer mitochondrial donation or similar assisted reproductive technology to South African patients with mitochondrial DNA disease?2016
Dr Joanna Elson
Pedunculopontine cell loss and protein aggregation direct microglia activation in parkinsonian rats2016
Dr Ilse Pienaar
Dr Joanna Elson
Alex Bury
An animal model mimicking pedunculopontine nucleus cholinergic degeneration in Parkinson's disease2015
Dr Ilse Pienaar
Dr Joanna Elson
Professor Raj Kalaria
Deep-brain stimulation associates with improved microvascular integrity in the subthalamic nucleus in Parkinson's disease2015
Dr Joanna Elson
Dr Paul Smith
Heterologous Inferential Analysis (HIA) as a Method to Understand the Role of Mitochondrial rRNA Mutations in Pathogenesis2015
Dr Joanna Elson
Mitochondrial DNA as a Risk Factor for False Positives in Case-Control Association Studies2015
Professor Grainne Gorman
Dr Joanna Elson
Jane Newman
Dr Brendan Payne
Professor Bobby McFarland
et al.
Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease2015
Dr Ilse Pienaar
Dr Sasha Gartside
Sabine Gretenkord
Dr Joanna Elson
Pharmacogenetic stimulation of cholinergic pedunculopontine neurons reverses motor deficits in a rat model of Parkinson's disease2015
Dr Joanna Elson
Dr Paul Smith
Dr Laura Greaves
Professor Robert Lightowlers
Professor Zofia Chrzanowska-Lightowlers
et al.
The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease2015
Professor Francois van der Westhuizen
Professor Grainne Gorman
Dr Brendan Payne
Dr Joanna Elson
Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop2015
Dr Laura Greaves
Marco Nooteboom
Dr Joanna Elson
Dr Helen Tuppen
Geoffrey Taylor
et al.
Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing2014
Dr Joanna Elson
Mark Cadogan
Professor Roger Whittaker
Professor Mike Trenell
Professor Rita Horvath
et al.
Initial development and validation of a mitochondrial disease quality of life scale2013
Dr Ilse Pienaar
Dr Joanna Elson
Dr Claudia Racca
Dr Glyn Nelson
Emeritus Professor Doug Turnbull
et al.
Mitochondrial Abnormality Associates with Type-Specific Neuronal Loss and Cell Morphology Changes in the Pedunculopontine Nucleus in Parkinson Disease2013
Dr Paul Smith
Dr Joanna Elson
Dr Laura Greaves
Professor Robert Lightowlers
Professor Zofia Chrzanowska-Lightowlers
et al.
The role of the mitochondrial ribosome in human disease: Searching for mutations in 12S mitochondrial rRNA with high disruptive potential2013
Dr John Yarham
Professor Bobby McFarland
Professor Robert Taylor
Dr Joanna Elson
A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations2012
Dr John Yarham
Dr Joanna Elson
Professor Robert Taylor
Professor Bobby McFarland
A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations2012
Dr Carole Proctor
Dr Ilse Pienaar
Dr Joanna Elson
Emeritus Professor Thomas Kirkwood
Aggregation, impaired degradation and immunization targeting of amyloid-beta dimers in Alzheimer's disease: A stochastic modelling approach2012
Professor Robert Taylor
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Professor Francois van der Westhuizen
Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease2012
Dr Laura Greaves
Dr Joanna Elson
Dr John Grady
Geoffrey Taylor
Professor Robert Taylor
et al.
Comparison of Mitochondrial Mutation Spectra in Ageing Human Colonic Epithelium and Disease: Absence of Evidence for Purifying Selection in Somatic Mitochondrial DNA Point Mutations2012
Dr Joanna Elson
Raising Doubts about the Pathogenicity of Mitochondrial DNA Mutation m.3308T>C in Left Ventricular Hypertraveculation/Noncompaction2012
Dr Amy Reeve
Tae-Kyung Park
Dr Evelyn Jaros
Graham Campbell
Dr Nichola Lax
et al.
Relationship Between Mitochondria and α-Synuclein: A Study of Single Substantia Nigra Neurons2012
Dr Joanna Elson
Dr John Yarham
Professor Francois van der Westhuizen
Dr Robert Pitceathly
Professor Robert Taylor
et al.
Towards a mtDNA locus-specific mutation database using the LOVD platform2012
Dr Gavin Hudson
Dr Ian Wilson
Dr Brendan Payne
Dr Joanna Elson
Professor David Samuels
et al.
Unique mitochondrial DNA in highly inbred feral cattle2012
John Yarham
Dr Charlotte Alston
Professor Robert Taylor
Dr Joanna Elson
Professor Bobby McFarland
et al.
A Comparative Analysis Approach to Determining the Pathogenicity of Mitochondrial tRNA Mutations2011
Dr Joanna Elson
Call for participation in the neurogenetics consortium within the Human Variome Project2011
Professor Grainne Gorman
Dr Joanna Elson
Dr Thomas Ploetz
Emeritus Professor Doug Turnbull
Professor Mike Trenell
et al.
Habitual Physical Activity in Mitochondrial Disease2011
Dr Lyndsey Butterworth
Dr Joanna Elson
Dr Helen Tuppen
Dr Lisa Ferguson
Gareth Greggains
et al.
Mitochondrial DNA disease: new options for prevention2011
Professor Bobby McFarland
Dr Joanna Elson
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression2011
Dr John Yarham
Dr Joanna Elson
Dr Charlotte Alston
Emeritus Professor Doug Turnbull
Professor Bobby McFarland
et al.
Assigning pathogenicity to mitochondrial tRNA gene mutations2010
Dr Joanna Elson
Mark Cadogan
Professor Bobby McFarland
Dr Roger Whittaker
Professor Rita Horvath
et al.
Development and validation of a mitochondrial disease-specific quality of life scale (Mito-QOL)2010
Professor Grainne Gorman
Emeritus Professor Doug Turnbull
Professor Rita Horvath
Professor Roger Whittaker
Angela Phillips
et al.
Development and validation of a quality of life scale for mitochondrial disease (MITO-QOL)2010
Professor Grainne Gorman
Dr Joanna Elson
Professor Mike Trenell
Emeritus Professor Doug Turnbull
Habitual physical activity in mitochondrial disease - do we need to intervene?2010
Professor Grainne Gorman
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Professor Mike Trenell
Habitual physical activity in mitochondrial disease - do we need to intervene?2010
Dr John Yarham
Dr Joanna Elson
Professor Bobby McFarland
Professor Robert Taylor
Mitochondrial tRNA mutations and disease2010
Dr Joanna Elson
Professor Grainne Gorman
Professor Roger Whittaker
Older mothers are not at risk of having grandchildren with sporadic mtDNA deletions2010
Dr Joanna Elson
Dr Helen Swalwell
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
et al.
Pathogenic mitochondrial tRNA mutations - which mutations are inherited and why?2009
Dr Amy Reeve
Geoffrey Taylor
Dr Joanna Elson
Professor Robert Taylor
Dr Christopher Morris
et al.
The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons2009
Professor Roger Whittaker
Dr John Blackwood
Dr Charlotte Alston
Dr Joanna Elson
Professor Bobby McFarland
et al.
Urine Heteroplasmy is the Best Predictor of Clinical Outcome in the m.3243A>G mtDNA Mutation2009
Dr Gavin Hudson
Catherine Mowbray
Dr Joanna Elson
Professor Patrick Chinnery
Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)?2008
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility.2008
Dr Matthias Elstner
Dr Joanna Elson
Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy2008
Dr Joanna Elson
Molecular clock debate: Time dependency of molecular rate estimates for mtDNA: This is not the time for wishful thinking2008
Dr Amy Reeve
Dr Joanna Elson
Dr Christopher Morris
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
et al.
Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons2008
Dr Jim Stewart
Dr Joanna Elson
Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease2008
Dr Joanna Elson
Strong purifying selection in transmission of mammalian mitochondrial DNA2008
Dr Helen Swalwell
Professor Bobby McFarland
Dr Joanna Elson
Dr Langping He
Emerita Professor Katherine Bushby
et al.
A maternally inherited mitochondrial tRNA mutation masquerading as limb girdle muscular dystrophy: Insights into the transmission of mtDNA mutations2007
Dr Joanna Elson
Professor Patrick Chinnery
Associating mitochondrial DNA variation with complex traits2007
Dr Gavin Hudson
Catherine Mowbray
Dr Angela Pyle
Dr Joanna Elson
Philip Griffiths
et al.
Clinical expression of Leber heriditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background2007
Professor Patrick Chinnery
Dr Catherine Mowbray
Dr Hannah Elliott
Dr Joanna Elson
Professor Pamela Shaw
et al.
Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis2007
Professor Patrick Chinnery
Dr Catherine Mowbray
Dr Sheila Patel
Dr Joanna Elson
Anne Hattersley
et al.
Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls2007
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Relative rates of evolution in the coding and control regions of African mtDNAs2007
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach2007
Dr Andrew Schaefer
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Professor Bobby McFarland
A scale to monitor progression and treatment of mitochondrial disease in children2006
Dr Joanna Elson
Dr Christopher Morris
Professor Jim Edwardson
Emeritus Professor Doug Turnbull
Does the mitochondrial genome play a role in the etiology of Alzheimer's disease?2006
Dr Andrew Schaefer
Dr Joanna Elson
Professor Bobby McFarland
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
et al.
Mitochondrial disease in adults: A scale to monitor progression and treatment2006
Dr Joanna Elson
Professor Robert Lightowlers
Mitochondrial DNA clonality in the dock: can surveillance swing the case?2006
Dr Anna Mitchell
Dr Joanna Elson
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Sequence variation in mitochondrial complex I genes: Mutation or polymorphism?2006
Dr Joanna Elson
Professor Patrick Chinnery
Emeritus Professor Doug Turnbull
mtDNA mutations and common neurodegenerative disorders2005
Professor Robert Taylor
Dr Joanna Elson
Professor Bobby McFarland
Dr Anna Mitchell
Emeritus Professor Doug Turnbull
et al.
Sequence variation in the mitochondrial genome: what is the pathogenic mutation?2005
Dr Joanna Elson
Emeritus Professor Doug Turnbull
African haplogroup L mtDNA sequences show violations of clock-like evolution2004
Dr Joanna Elson
Professor Bobby McFarland
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough2004
Professor Bobby McFarland
Dr Joanna Elson
Professor Robert Taylor
Emeritus Professor Doug Turnbull
Assigning pathogenicity to mitochondrial tRNA mutations: when 'definitely maybe' is not good enough2004
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Comparative Genomics and the Evolution of Human Mitochondrial DNA: Assessing the Effects of Selection2004
Professor Bobby McFarland
Professor Robert Taylor
Dr Joanna Elson
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
et al.
Proving pathogenicity: When evolution is not enough2004
Professor Patrick Chinnery
Dr David Samuels
Dr Joanna Elson
Emeritus Professor Doug Turnbull
Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: Is there a common mechanism?2002
Dr Joanna Elson
Dr David Samuels
Dr Margaret Johnson
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
et al.
The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy2002
Dr Joanna Elson
Dr Richard Andrews
Professor Patrick Chinnery
Professor Robert Lightowlers
Emeritus Professor Doug Turnbull
et al.
Analysis of European mtDNAs for recombination2001
Dr Joanna Elson
Professor David Samuels
Emeritus Professor Doug Turnbull
Professor Patrick Chinnery
Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age2001