1. Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy. (1st June 2014) Authors: Yesudian, P. D.; Cabral, R. M.; Ladusans, E.; Spinty, S.; Gibbs, J.; Fryer, A.; Christiano, A. M.; Mendelsohn, S. S. Journal: Clinical and experimental dermatology Issue: Volume 39:Number 4(2014) Page Start: 506 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy. (June 2014) Authors: Yesudian, P. D.; Cabral, R. M.; Ladusans, E.; Spinty, S.; Gibbs, J.; Fryer, A.; Christiano, A. M.; Mendelsohn, S. S. Journal: Clinical and experimental dermatology Issue: Volume 39:Number 4(2014) Page Start: 506 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Overcoming pharmacokinetic challenges to drug administration in Duchenne muscular dystrophy: Lessons from Phase 1 development of ezutromid. (June 2017) Authors: Tejura, B.; Spinty, S.; Roper, H.; Hughes, I.; Majumdar, A.; Harriman, S.; Davies, K.; Muntoni, F. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗