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Browsing publications by Sila Hopton

Newcastle AuthorsTitleYearFull text
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
et al.
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
Professor Zofia Chrzanowska-Lightowlers
et al.
Defective mitochondrial protease LonP1 can cause classical mitochondrial disease2018
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