Browsing publications by Gavin Falkous

Newcastle AuthorsTitleYearFull text
Dr Ewen Sommerville
Dr Yi Ng
Dr Charlotte Alston
Dr Langping He
Charlotte Knowles
et al.
Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy2017
Ewen Sommerville
Dr Charlotte Alston
Dr Angela Pyle
Dr Langping He
Gavin Falkous
et al.
De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities2017
Syeda Ahmed
Charlotte Alston
Sila Hopton
Dr Langping He
Gavin Falkous
et al.
Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency2017
Dr Steven Hardy
Dr Andrew Purvis
Dr Mariana Rocha
Syeda Ahmed
Gavin Falkous
et al.
Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy2016
Dr Yi Ng
Dr John Grady
Dr Nichola Lax
Dr John Bourke
Dr Charlotte Alston
et al.
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults2016
Dr Amy Vincent
Dr Yi Ng
Dr Kathryn White
Tracey Davey
Gavin Falkous
et al.
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy2016
Dr Nichola Lax
Dr Langping He
Gavin Falkous
Professor Bobby McFarland
Professor Robert Taylor
et al.
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations2015
Dr Grainne Gorman
Dr Hue Hornig - Do
Dr Helen Tuppen
Dr Laura Greaves
Dr Langping He
et al.
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression2015
Dr John Grady
Georgia Campbell
Gavin Falkous
Dr Victoria Nesbitt
Dr Andrew Schaefer
et al.
Disease progression in patients with single, large-scale mitochondrial DNA deletions2014
Dr Charlotte Alston
Gavin Falkous
Professor Doug Turnbull
Professor Robert Taylor
Dr Grainne Gorman
et al.
Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation2014
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