1. Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy. Issue 2 (3rd January 2022) Authors: Magrinelli, Francesca; Cali, Elisa; Braga, Vinícius Lopes; Yis, Uluç; Tomoum, Hoda; Shamseldin, Hanan; Raiman, Julian; Kernstock, Christoph; Rezende Filho, Flávio Moura; Barsottini, Orlando Graziani Povoas; Taylor, Robert W.; Østergaard, Elsebet; Tamim, Abdullah; Schäferhoff, Karin; Sallum, Julia... Journal: Movement disorders clinical practice Issue: Volume 9:Issue 2(2022) Page Start: 218 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy. (June 2020) Authors: Harper, Andrew R.; Bowman, Michael; Hayesmoore, Jesse B.G.; Sage, Helen; Salatino, Silvia; Blair, Edward; Campbell, Carolyn; Currie, Bethany; Goel, Anuj; McGuire, Karen; Ormondroyd, Elizabeth; Sergeant, Kate; Waring, Adam; Woodley, Jessica; Kramer, Christopher M.; Neubauer, Stefan; Farrall, Marti... Journal: Circulation Issue: Volume 13:Number 3(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗