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Browsing publications by Gavin Falkous.

Newcastle AuthorsTitleYearFull text
Dr Albert Lim
Dr Grace McMacken
Francesca Rastelli
Dr Monika Olahova
Karen Baty
et al.
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features2020
Dr Yi Ng
Dr Kyle Thompson
Daniela Loher
Sila Hopton
Gavin Falkous
et al.
Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency2020
Karen Baty
Sila Hopton
Dr Isabell Cordts
Gavin Falkous
Professor Robert Taylor
et al.
Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant2020
Steven Hardy
Sila Hopton
Gavin Falkous
Professor Robert Taylor
A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy2019
Dr Albert Lim
Karen Baty
Dr Langping He
Sila Hopton
Gavin Falkous
et al.
A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes2019
Charlotte Zierz
Karen Baty
Sila Hopton
Gavin Falkous
Dr Andrew Schaefer
et al.
A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia2019
Dr Ewen Sommerville
Dr Francesco Bruni
Dr Kyle Thompson
Dr Mariana Rocha
Dr Langping He
et al.
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance2019
Gavin Falkous
Professor Robert Taylor
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy2019
Ruth Glasgow
Dr Steven Hardy
Gavin Falkous
Dr Langping He
Professor Robert Taylor
et al.
Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement2019
Dr Amy Vincent
Dr Kathryn White
Tracey Davey
Jonathan Phillips
Dr Conor Lawless
et al.
Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network2019
Sila Hopton
Gavin Falkous
Dr Fiona Norwood
Professor Grainne Gorman
Professor Robert Taylor
et al.
Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene2018
Sasiharan Sithamparanathan
Dr Mariana Rocha
Dr Jehill Parikh
Karolina Rygiel
Gavin Falkous
et al.
Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study2018
Dr Amy Vincent
Hannah Rosa
Kamil Pabis
Dr Conor Lawless
Dr Chun Chen
et al.
Subcellular origin of mitochondrial DNA deletions in human skeletal muscle2018
Dr Diana Lehmann
Dr Steven Hardy
Gavin Falkous
Charlotte Knowles
Rachel Phelps
et al.
Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls2017
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
Professor 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
Emeritus Professor Doug Turnbull
Professor Robert Taylor
Professor Grainne Gorman
et al.
Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation2014
Dr Julie Murphy
Gavin Falkous
Dr Charlotte Alston
Professor Robert Taylor
Emeritus Professor Doug Turnbull
et al.
Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy2012
Dr Julie Murphy
Thiloka Ratnaike
Ersong Shang
Gavin Falkous
Dr Charlotte Alston
et al.
Long term endurance training and deconditioning in patients with mitochondrial myopathy2012
Dr Charlotte Alston
Dr Langping He
Gavin Falkous
Professor Bobby McFarland
Professor Robert Taylor
et al.
Novel SDHA and SDHB mutations as a cause of isolated mitochondria! complex II deficiency2012
Dr Julie Murphy
Jane Newman
Thiloka Ratnaike
Gavin Falkous
Dr Charlotte Alston
et al.
Resistance training in patients with mitochondrial myopathy2012
Gavin Falkous
Dr David Mantle
Skeletal muscle protein loss due to D-penicillamine results from reduced protein synthesis2001
Gavin Falkous
Matthew Reilly
Dr David Mantle
Carbonyl levels in type I and II fiber-rich muscles and their response to chronic ethanol feeding in vivo and hydroxyl and superoxide radicals in vitro2000
Dr David Mantle
Gavin Falkous
Effect of ethanol and acetaldehyde on intracellular protease activities in human liver, brain and muscle tissues in vitro1999
Dr David Mantle
Gavin Falkous
Emeritus Professor Elaine Perry
Effect of flavonoids on protease activities in human skeletal muscle tissue in vitro1999
Gavin Falkous
Dr David Mantle
Oxidants, antioxidants and alcohol: implications for skeletal and cardiac muscle1999
Dr David Mantle
Gavin Falkous
Dr David Walker
Quantification of protease activities in synovial fluid from rheumatoid and osteoarthritis cases: comparison with antioxidant and free radical damage markers1999
Dr David Mantle
Dr John Anderton
Gavin Falkous
Martine Barnes
Emeritus Professor Elaine Perry
et al.
Comparison of methods for determination of total antioxidant status: Application to analysis of medicinal plant essential oils1998
Dr David Mantle
Gavin Falkous
Emeritus Professor Elaine Perry
Comparison of proline endopeptidase activity in brain tissue from normal cases and cases with Alzheimer's disease, Lewy body dementia, Parkinson's disease and Huntington's disease1996
Dr David Mantle
Gavin Falkous
Emeritus Professor Robert Perry
Emeritus Professor Elaine Perry
Comparison of cathepsin protease activities in brain tissue from normal cases and cases with Alzheimer's disease, Lewy body dementia, Parkinson's disease and Huntington's disease1995