Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease E Bugiardini, OV Poole, A Manole, AM Pittman, A Horga, I Hargreaves, ... Neurology Genetics 3 (3), e149, 2017 | 25 | 2017 |
Mitochondrial disorders: disease mechanisms and therapeutic approaches OV Poole, MG Hanna, RDS Pitceathly Discovery medicine 20 (111), 325-331, 2015 | 23 | 2015 |
Mitochondrial disease and pelvic organ dysfunction: an under-recognised but treatable clinical association OV Poole, J Panicker, A Emmanuel, MG Hanna, RDS Pitceathly Neuromuscular Disorders 27, S22, 2017 | | 2017 |
Service evaluation exploring the incidence of vestibular and balance dysfunction in people with mitochondrial disease S Holmes, A Male, GM Ramdharry, R Quinlivan, E Bugiardini, OV Poole, ... Neuromuscular Disorders 27, S22-S23, 2017 | | 2017 |
TPK1 mutations: unmasking a potentially treatable cause of Leigh-like syndrome E Bugiardini, OV Poole, A Pittman, CE Woodward, MG Sweeney, ... Neuromuscular Disorders 27, S23, 2017 | | 2017 |
Cause of death in a cohort of mitochondrial patients I Skorupinska, E Bugiardini, YS Ng, A Horga, OV Poole, R McFarland, ... Neuromuscular Disorders 27, S19, 2017 | | 2017 |
Cause of death in a cohort of mitochondrial patients I Skorupinska, E Bugiardini, A Horga, O Poole, RDS Pitceathly, ... MUSCLE & NERVE 54, 10-11, 2016 | | 2016 |
TRIAP1 mutations are a cause of reversible infantile bulbar failure with subsequent progressive adolescent onset myopathy OV Poole, E Fernandez-Vizarra, C Turner, B Clarke, E Bugiardini, ... MUSCLE & NERVE 54, 14-14, 2016 | | 2016 |
RNASEH1 mutations are a rare cause of CPEO with multiple mtDNA deletions E Bugiardini, O Poole, A Manole, A Horga, I Hargreaves, JL Holton, ... MUSCLE & NERVE 54, 15-15, 2016 | | 2016 |