1. 209 Whole Exome Sequencing Identifies Genetic Cause of Histiocytoid Cardiomyopathy. (3rd June 2016) Authors: Rea, Gillian; Homfray, Tessa; Till, Jan; Roses-Noguer, Ferran; Buchan, Rachel J; Wilkinson, Sam; Walsh, Roddy; McKee, Shane; Stewart, Fiona J; Murday, Victoria; Taylor, Robert W; John Baksi, A; Prasad, Sanjay K; Barton, Paul JR; Ware, James S; Cook, Stuart A Journal: Heart Issue: Volume 102(2016)Supplement 6 Page Start: A138 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel histochemistry assay to assess and quantify focal cytochrome c oxidase deficiency. Issue 3 (14th May 2018) Authors: Simard, Marie‐Lune; Mourier, Arnaud; Greaves, Laura C; Taylor, Robert W; Stewart, James B Journal: Journal of pathology Issue: Volume 245:Issue 3(2018) Page Start: 311 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. Issue 9 (18th April 2016) Authors: Alston, Charlotte L; Howard, Caoimhe; Oláhová, Monika; Hardy, Steven A; He, Langping; Murray, Philip G; O'Sullivan, Siobhan; Doherty, Gary; Shield, Julian P H; Hargreaves, Iain P; Monavari, Ardeshir A; Knerr, Ina; McCarthy, Peter; Morris, Andrew A M; Thorburn, David R; Prokisch, Holger; Clayton, ... Journal: Journal of medical genetics Issue: Volume 53:Issue 9(2016) Page Start: 634 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. Issue 2 (29th October 2011) Authors: Horvath, Rita; Czermin, Birgit; Gulati, Sweena; Demuth, Stephanie; Houge, Gunnar; Pyle, Angela; Dineiger, Christine; Blakely, Emma L; Hassani, Adam; Foley, Charlotte; Brodhun, Michael; Storm, Karin; Kirschner, Janbernd; Gorman, Grainne S; Lochmüller, Hanns; Holinski-Feder, Elke; Taylor, Robert W;... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 83:Issue 2(2012) Page Start: 174 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations. Issue 9 (10th May 2012) Authors: Pfeffer, Gerald; Blakely, Emma L; Alston, Charlotte L; Hassani, Adam; Boggild, Mike; Horvath, Rita; Samuels, David C; Taylor, Robert W; Chinnery, Patrick F Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 83:Issue 9(2012) Page Start: 883 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Albinism and a mitochondrial DNA deletion. (3rd May 2020) Authors: Chilibeck, Corina M; Glamuzina, Emma E; Ung, Casey Y-J; Blakely, Emma L; Taylor, Robert W; Vincent, Andrea L Journal: Ophthalmic genetics Issue: Volume 41:Number 3(2020) Page Start: 295 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Albinism and a mitochondrial DNA deletion. (3rd May 2020) Authors: Chilibeck, Corina M; Glamuzina, Emma E; Ung, Casey Y-J; Blakely, Emma L; Taylor, Robert W; Vincent, Andrea L Journal: Ophthalmic genetics Issue: Volume 41:Number 3(2020) Page Start: 295 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I. Issue 11 (24th September 2020) Authors: Alahmad, Ahmad; Nasca, Alessia; Heidler, Juliana; Thompson, Kyle; Oláhová, Monika; Legati, Andrea; Lamantea, Eleonora; Meisterknecht, Jana; Spagnolo, Manuela; He, Langping; Alameer, Seham; Hakami, Fahad; Almehdar, Abeer; Ardissone, Anna; Alston, Charlotte L; McFarland, Robert; Wittig, Ilka; Ghezz... Journal: EMBO molecular medicine Issue: Volume 12:Issue 11(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes. Issue 12 (8th November 2021) Authors: Vidali, Silvia; Gerlini, Raffaele; Thompson, Kyle; Urquhart, Jill E; Meisterknecht, Jana; Aguilar‐Pimentel, Juan Antonio; Amarie, Oana V; Becker, Lore; Breen, Catherine; Calzada‐Wack, Julia; Chhabra, Nirav F; Cho, Yi‐Li; da Silva‐Buttkus, Patricia; Feichtinger, René G; Gampe, Kristine; Garrett, L... Journal: EMBO molecular medicine Issue: Volume 13:Issue 12(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗