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Browsing publications by Gavin Falkous

Newcastle AuthorsTitleYearFull text
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 stability2023
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 myopathy2022
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 palsy2022
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
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
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
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
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