1. Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases. Issue 11 (8th June 2021) Authors: Grunseich, Christopher; Sarkar, Nathan; Lu, Joyce; Owen, Mallory; Schindler, Alice; Calabresi, Peter A; Sumner, Charlotte J; Roda, Ricardo H; Chaudhry, Vinay; Lloyd, Thomas E; Crawford, Thomas O; Subramony, S H; Oh, Shin J; Richardson, Perry; Tanji, Kurenai; Kwan, Justin Y; Fischbeck, Kenneth H; ... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 92:Issue 11(2021) Page Start: 1186 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. P0222KIDNEY EFFECTS IN THE MOXIE TRIAL: A STUDY OF OMAVELOXOLONE IN PATIENTS WITH FRIEDRICH'S ATAXIA. (6th June 2020) Authors: Zaoui, Philippe; Chin, Melanie; Delatycki, Martin; Giunti, Paola; Goldsberry, Angie; Meyer, Colin; O'Grady, Megan; Perlman, Susan; Subramony, S H; Zesiewicz, Theresa; Lynch, David Journal: Nephrology dialysis transplantation Issue: Volume 35(2020)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗