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Browsing publications by Gavin Falkous

Newcastle AuthorsTitleYearFull text
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
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.		Quantiative 3D Mapping of The Human Skeletal Muscle Mitochondrial Network2019
Sila Hopton
Gavin Falkous
Dr Fiona Norwood
Dr 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
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 Jones
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
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