Publications by Gavin Falkous - ePrints

Browsing publications by Gavin Falkous.

Newcastle Authors	Title	Year
Dr Mahmoud Fassad Dr Katja Menger Sila Hopton Gavin Falkous Professor Bobby McFarland et al.	Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability	2023
Dr Alaa Abouhajar Dr Lisa Alcock Dr Theophile Bigirumurame Penny Bradley Laura Brown et al.	Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy	2022
Dr Andrew Schaefer Kate Craig Sila Hopton Gavin Falkous Professor Robert Taylor et al.	Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy	2022
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 features	2020
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 Deficiency	2020
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-tRNA^Pro) gene variant	2020
Steven Hardy Sila Hopton Gavin Falkous Professor Robert Taylor	A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy	2019
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 changes	2019
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 Ataxia	2019
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 maintenance	2019
Gavin Falkous Professor Robert Taylor	ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy	2019
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 replacement	2019
Dr Amy Vincent Dr Kathryn White Tracey Davey Jonathan Phillips Dr Conor Lawless et al.	Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network	2019
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 gene	2018
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 study	2018
Dr Amy Vincent Hannah Rosa Kamil Pabis Dr Conor Lawless Dr Chun Chen et al.	Subcellular origin of mitochondrial DNA deletions in human skeletal muscle	2018
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 pitfalls	2017
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 myopathy	2017
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 activities	2017
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 deficiency	2017
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 biopsy	2016
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 adults	2016
Dr Amy Vincent Dr Yi Ng Dr Kathryn White Tracey Davey Gavin Falkous et al.	The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy	2016
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 Mutations	2015
Professor Grainne Gorman Dr Hue Hornig - Do Dr Helen Tuppen Professor Laura Greaves Dr Langping He et al.	Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression	2015
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 deletions	2014
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" mutation	2014
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 myopathy	2012
Dr Julie Murphy Thiloka Ratnaike Ersong Shang Gavin Falkous Dr Charlotte Alston et al.	Long term endurance training and deconditioning in patients with mitochondrial myopathy	2012
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 deficiency	2012
Dr Julie Murphy Jane Newman Thiloka Ratnaike Gavin Falkous Dr Charlotte Alston et al.	Resistance training in patients with mitochondrial myopathy	2012
Gavin Falkous Dr David Mantle	Skeletal muscle protein loss due to D-penicillamine results from reduced protein synthesis	2001
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 vitro	2000
Dr David Mantle Gavin Falkous	Effect of ethanol and acetaldehyde on intracellular protease activities in human liver, brain and muscle tissues in vitro	1999
Dr David Mantle Gavin Falkous Emeritus Professor Elaine Perry	Effect of flavonoids on protease activities in human skeletal muscle tissue in vitro	1999
Gavin Falkous Dr David Mantle	Oxidants, antioxidants and alcohol: implications for skeletal and cardiac muscle	1999
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 markers	1999
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 oils	1998
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 disease	1996
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 disease	1995