1. Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy. Issue 2 (8th December 2022) Authors: Elwan, Menatalla; Schaefer, Andrew M; Craig, Kate; Hopton, Sila; Falkous, Gavin; Blakely, Emma L; Taylor, Robert W; Warren, Naomi Journal: BMJ neurology open Issue: Volume 4:Issue 2(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Defective mitochondrial protease LonP1 can cause classical mitochondrial disease. (6th March 2018) Authors: Peter, Bradley; Waddington, Christie L; Oláhová, Monika; Sommerville, Ewen W; Hopton, Sila; Pyle, Angela; Champion, Michael; Ohlson, Monica; Siibak, Triinu; Chrzanowska-Lightowlers, Zofia M A; Taylor, Robert W; Falkenberg, Maria; Lightowlers, Robert N Journal: Human molecular genetics Issue: Volume 27:Number 10(2018:May 15) Page Start: 1743 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy. (August 2018) Authors: King, Martin S.; Thompson, Kyle; Hopton, Sila; He, Langping; Kunji, Edmund R.S.; Taylor, Robert W.; Ortiz-Gonzalez, Xilma R. Journal: Neurology Issue: Volume 4:Number 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis. Issue 3 (17th February 2019) Authors: Hayhurst, Hannah; de Coo, Irenaeus F. M.; Piekutowska‐Abramczuk, Dorota; Alston, Charlotte L.; Sharma, Sunil; Thompson, Kyle; Rius, Rocio; He, Langping; Hopton, Sila; Ploski, Rafal; Ciara, Elzbieta; Lake, Nicole J.; Compton, Alison G.; Delatycki, Martin B.; Verrips, Aad; Bonnen, Penelope E.; Jone... Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 3(2019) Page Start: 515 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Metabolic effects of bezafibrate in mitochondrial disease. Issue 3 (28th February 2020) Authors: Steele, Hannah; Gomez‐Duran, Aurora; Pyle, Angela; Hopton, Sila; Newman, Jane; Stefanetti, Renae J; Charman, Sarah J; Parikh, Jehill D; He, Langping; Viscomi, Carlo; Jakovljevic, Djordje G; Hollingsworth, Kieren G; Robinson, Alan J; Taylor, Robert W; Bottolo, Leonardo; Horvath, Rita; Chinnery, Pa... Journal: EMBO molecular medicine Issue: Volume 12:Issue 3(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease. Issue 12 (13th January 2022) Authors: Schober, Florian A; Tang, Jia Xin; Sergeant, Kate; Moedas, Marco F; Zierz, Charlotte M; Moore, David; Smith, Conrad; Lewis, David; Guha, Nishan; Hopton, Sila; Falkous, Gavin; Lam, Amanda; Pyle, Angela; Poulton, Joanna; Gorman, Gráinne S; Taylor, Robert W; Freyer, Christoph; Wredenberg, Anna Journal: Human molecular genetics Issue: Volume 31:Issue 12(2022) Page Start: 2049 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant. Issue 9 (20th July 2017) Authors: Gill, Jaidip S; Hardy, Steven A; Blakely, Emma L; Hopton, Sila; Nemeth, Andrea H; Fratter, Carl; Poulton, Joanna; Taylor, Robert W; Downes, Susan M Journal: British journal of ophthalmology Issue: Volume 101:Issue 9(2017) Page Start: 1298 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency. Issue 1 (December 2017) Authors: Ahmed, Syeda; Alston, Charlotte; Hopton, Sila; He, Langping; Hargreaves, Iain; Falkous, Gavin; Oláhová, Monika; McFarland, Robert; Turnbull, Doug; Rocha, Mariana; Taylor, Robert Journal: Scientific reports Issue: Volume 7:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗