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Browsing publications by Sila Hopton

Newcastle AuthorsTitleYearFull text
Lucie Taylor
Dr Langping He
Sila Hopton
Dr Angela Pyle
Professor Robert Taylor
COA5 has an essential role in the early stage of mitochondrial complex IV assembly2025
Sila Hopton
Dr Langping He
Dr Charlotte Alston
Professor Robert Taylor
Dr Ana Topf
et al.		Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland2025
Sila Hopton
Dr Yi Ng
Professor Robert Taylor
Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibres2025
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 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 Hannah Steele
Dr Angela Pyle
Sila Hopton
Jane Newman
Dr Renae Stefanetti
et al.		Metabolic effects of bezafibrate in mitochondrial disease.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 Deficiency2020
Dr Charlotte Alston
Lucie Taylor
Dr Langping He
Sila Hopton
Professor Bobby McFarland
et al.		Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an 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 Hannah Hayhurst
Charlotte Alston
Dr Kyle Thompson
Dr Langping He
Sila Hopton
et al.		Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis2019
Christie Waddington
Ewen Sommerville
Sila Hopton
Dr Angela Pyle
Emerita Professor Zofia Chrzanowska-Lightowlers
et al.		Defective mitochondrial protease LonP1 can cause classical mitochondrial disease2018
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