1. Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. Issue 3 (27th February 2009) Authors: Stewart, J D; Tennant, S; Powell, H; Pyle, A; Blakely, E L; He, L; Hudson, G; Roberts, M; du Plessis, D; Gow, D; Mewasingh, L D; Hanna, M G; Omer, S; Morris, A A; Roxburgh, R; Livingston, J H; McFarland, R; Turnbull, D M; Chinnery, P F; Taylor, R W Journal: Journal of medical genetics Issue: Volume 46:Issue 3(2009) Page Start: 209 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A common UCP2 polymorphism predisposes to stress hyperglycaemia in severe sepsis. Issue 11 (25th June 2009) Authors: Pyle, A; Ibbett, I M; Gordon, C; Keers, S M; Walker, M; Chinnery, P F; Baudouin, S V Journal: Journal of medical genetics Issue: Volume 46:Issue 11(2009) Page Start: 773 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 003 Adult-onset cerebellar ataxia due to mutations in the CABC1/ADCK3 gene. Issue 3 (9th February 2012) Authors: Horvath, P O; Czermin, B; Gulati, S; Pyle, A; Hassani, A; Foley, C; Taylor, R W; Chinnery, P F Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 83:Issue 3(2012) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗