Publications by Sila Hopton - ePrints

Browsing publications by Sila Hopton.

Newcastle Authors	Title	Year
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 stability	2023
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 palsy	2022
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 features	2020
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 Deficiency	2020
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 Deficiency	2020
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-tRNA^Pro) gene variant	2020
Steven Hardy Sila Hopton Gavin Falkous Professor Robert Taylor	A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy	2019
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 changes	2019
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 Ataxia	2019
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 prognosis	2019
Christie Waddington Ewen Sommerville Sila Hopton Dr Angela Pyle Professor Zofia Chrzanowska-Lightowlers et al.	Defective mitochondrial protease LonP1 can cause classical mitochondrial disease	2018
Dr Kyle Thompson Sila Hopton Dr Langping He Professor Robert Taylor	Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy	2018
Sila Hopton Gavin Falkous Dr Fiona Norwood Professor Grainne Gorman Professor Robert Taylor et al.	Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene	2018
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 variant	2017
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 deficiency	2017