1. 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) ↗
2. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance. Issue 2 (14th November 2019) Authors: Sommerville, Ewen W.; Dalla Rosa, Ilaria; Rosenberg, Masha M.; Bruni, Francesco; Thompson, Kyle; Rocha, Mariana; Blakely, Emma L.; He, Langping; Falkous, Gavin; Schaefer, Andrew M.; Yu‐Wai‐Man, Patrick; Chinnery, Patrick F.; Hedstrom, Lizbeth; Spinazzola, Antonella; Taylor, Robert W.; Gorman, Grá... Journal: Clinical genetics Issue: Volume 97:Issue 2(2020) Page Start: 276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. 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) ↗
5. Subcellular origin of mitochondrial DNA deletions in human skeletal muscle. Issue 2 (21st August 2018) Authors: Vincent, Amy E.; Rosa, Hannah S.; Pabis, Kamil; Lawless, Conor; Chen, Chun; Grünewald, Anne; Rygiel, Karolina A.; Rocha, Mariana C.; Reeve, Amy K.; Falkous, Gavin; Perissi, Valentina; White, Kathryn; Davey, Tracey; Petrof, Basil J.; Sayer, Avan A.; Cooper, Cyrus; Deehan, David; Taylor, Robert W.;... Journal: Annals of neurology Issue: Volume 84:Issue 2(2018) Page Start: 289 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study. (May 2018) Authors: Sithamparanathan, Sasiharan; Rocha, Mariana C.; Parikh, Jehill D.; Rygiel, Karolina A.; Falkous, Gavin; Grady, John P.; Hollingsworth, Kieren G.; Trenell, Michael I.; Taylor, Robert W.; Turnbull, Doug M.; Gorman, Gráinne S.; Corris, Paul A. Journal: Pulmonary circulation Issue: Volume 8:Number 2(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. Issue 7 (July 2015) Authors: Lax, Nichola Z.; Alston, Charlotte L.; Schon, Katherine; Park, Soo-Mi; Krishnakumar, Deepa; He, Langping; Falkous, Gavin; Ogilvy-Stuart, Amanda; Lees, Christoph; King, Rosalind H.; Hargreaves, Iain P.; Brown, Garry K.; McFarland, Robert; Dean, Andrew F.; Taylor, Robert W. Journal: Journal of neuropathology and experimental neurology Issue: Volume 74:Issue 7(2015:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls. (June 2017) Authors: Reimann, Jens; Lehmann, Diana; Hardy, Steven A.; Falkous, Gavin; Knowles, Charlotte V.Y.; Jones, Rachel L.; Kunz, Wolfram S.; Taylor, Robert W.; Kornblum, Cornelia Journal: Neurology Issue: Volume 3:Number 3(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities. (October 2017) Authors: Sommerville, Ewen W.; Alston, Charlotte L.; Pyle, Angela; He, Langping; Falkous, Gavin; Naismith, Karen; Chinnery, Patrick F.; McFarland, Robert; Taylor, Robert W. Journal: Neurology Issue: Volume 3:Number 5(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. Issue 7 (July 2015) Authors: Lax, Nichola Z.; Alston, Charlotte L.; Schon, Katherine; Park, Soo-Mi; Krishnakumar, Deepa; He, Langping; Falkous, Gavin; Ogilvy-Stuart, Amanda; Lees, Christoph; King, Rosalind H.; Hargreaves, Iain P.; Brown, Garry K.; McFarland, Robert; Dean, Andrew F.; Taylor, Robert W. Journal: Journal of neuropathology and experimental neurology Issue: Volume 74:Issue 7(2015:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗