1. Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial. Issue 3 (March 2023) Authors: Thornton, Charles A; Moxley, Richard Thomas; Eichinger, Katy; Heatwole, Chad; Mignon, Laurence; Arnold, W David; Ashizawa, Tetsuo; Day, John W; Dent, Gersham; Tanner, Matthew K; Duong, Tina; Greene, Ericka P; Herbelin, Laura; Johnson, Nicholas E; King, Wendy; Kissel, John T; Leung, Doris G; Lott,... Journal: Lancet neurology Issue: Volume 22:Issue 3(2023) Page Start: 218 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Elevated plasma complement components in facioscapulohumeral dystrophy. Issue 11 (17th December 2021) Authors: Wong, Chao-Jen; Wang, Leo; Holers, V Michael; Frazer-Abel, Ashley; van der Maarel, Silvère M; Tawil, Rabi; Statland, Jeffrey M; Tapscott, Stephen J Journal: Human molecular genetics Issue: Volume 31:Issue 11(2022) Page Start: 1821 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies. (21st February 2020) Authors: Wong, Chao-Jen; Wang, Leo H; Friedman, Seth D; Shaw, Dennis; Campbell, Amy E; Budech, Chris B; Lewis, Leann M; Lemmers, Richard J F L; Statland, Jeffrey M; van der Maarel, Silvère M; Tawil, Rabi N; Tapscott, Stephen J Journal: Human molecular genetics Issue: Volume 29:Number 6(2020) Page Start: 1030 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Machine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis. Issue 1 (3rd December 2020) Authors: Placek, Katerina; Benatar, Michael; Wuu, Joanne; Rampersaud, Evadnie; Hennessy, Laura; Van Deerlin, Vivianna M; Grossman, Murray; Irwin, David J; Elman, Lauren; McCluskey, Leo; Quinn, Colin; Granit, Volkan; Statland, Jeffrey M; Burns, Ted M; Ravits, John; Swenson, Andrea; Katz, Jon; Pioro, Erik P... Journal: EMBO molecular medicine Issue: Volume 13:Issue 1(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗