1. A novel GNAL mutation in familial dystonia presenting with childhood tremor and myoclonus. Issue 6 (9th April 2019) Authors: Geoghegan, Aisling R.; Al Hussona, Mariam; Beauchamp, Nick J.; Hutchinson, Michael; Sean O'Riordan, MB; Lynch, Tim; Webb, David Journal: Movement disorders Issue: Volume 34:Issue 6(2019) Page Start: 923 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion. Issue 7 (2nd October 2021) Authors: Ghahremani Nezhad, Helia; Franklin, John P.; Alix, James J. P.; Moll, Tobias; Pattrick, Michael; Cooper-Knock, Johnathan; Shanmugarajah, Priya; Beauchamp, Nick J.; Hadjivissiliou, Marios; Paling, David; Mcdermott, Christopher; Shaw, Pamela J.; Jenkins, Thomas M. Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 22:Issue 7/8(2021) Page Start: 579 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗