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Browsing publications by Sila Hopton

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
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
Professor Zofia Chrzanowska-Lightowlers
et al.
Defective mitochondrial protease LonP1 can cause classical mitochondrial disease2018
Dr Kyle Thompson
Sila Hopton
Dr Langping He
Professor Robert Taylor
Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy2018
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
Dr Steven Hardy
Dr Emma Watson
Sila Hopton
Professor Robert Taylor
Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant2017
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