Current and emerging clinical treatment in mitochondrial disease RJ Tinker, AZ Lim, RJ Stefanetti, R McFarland Molecular diagnosis & therapy 25, 181-206, 2021 | 59 | 2021 |
The mitochondrial epilepsies A Lim, RH Thomas European journal of paediatric neurology 24, 47-52, 2020 | 57 | 2020 |
Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study YS Ng, MH Martikainen, GS Gorman, A Blain, E Bugiardini, A Bunting, ... Annals of neurology 86 (2), 310-315, 2019 | 42 | 2019 |
Resolving complexity in mitochondrial disease: Towards precision medicine RM Boggan, A Lim, RW Taylor, R McFarland, SJ Pickett Molecular genetics and metabolism 128 (1-2), 19-29, 2019 | 41 | 2019 |
Epidemiology of mitochondrial disease A Schaefer, A Lim, G Gorman Diagnosis and management of mitochondrial disorders, 63-79, 2019 | 31 | 2019 |
Kikuchi‐Fujimoto disease: a case report and literature review V Veer, A Lim, W Issing Case reports in Otolaryngology 2012 (1), 497604, 2012 | 30 | 2012 |
A case‐comparison study of pregnant women with mitochondrial disease–what to expect? CL Feeney, AZ Lim, E Fagan, A Blain, A Bright, J Maddison, H Devine, ... BJOG: An International Journal of Obstetrics & Gynaecology 126 (11), 1380-1389, 2019 | 21 | 2019 |
Endocrine manifestations and new developments in mitochondrial disease YS Ng, AZ Lim, G Panagiotou, DM Turnbull, M Walker Endocrine reviews 43 (3), 583-609, 2022 | 20 | 2022 |
Natural history of Leigh syndrome: a study of disease burden and progression AZ Lim, YS Ng, A Blain, C Jiminez‐Moreno, CL Alston, V Nesbitt, ... Annals of Neurology 91 (1), 117-130, 2022 | 19 | 2022 |
Diagnosis and management of mitochondrial disorders M Mancuso, T Klopstock Springer, 2019 | 17 | 2019 |
Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes SL Stenton, M Shimura, D Piekutowska-Abramczuk, P Freisinger, ... medRxiv, 2021.06. 21.21259171, 2021 | 11 | 2021 |
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features AZ Lim, G McMacken, F Rastelli, M Oláhová, K Baty, S Hopton, G Falkous, ... Neuromuscular Disorders 30 (8), 661-668, 2020 | 9 | 2020 |
RRM2B mitochondrial DNA maintenance defects AZ Lim, R McFarland, RW Taylor, GS Gorman | 8 | 2021 |
Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects AZ Lim, DM Jones, MGD Bates, AM Schaefer, J O'Sullivan, C Feeney, ... Open Heart 8 (1), e001510, 2021 | 4 | 2021 |
A novel pathogenic m. 4412G> A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes AZ Lim, EL Blakely, K Baty, L He, S Hopton, G Falkous, K McWilliam, ... Mitochondrion 47, 18-23, 2019 | 3 | 2019 |
Leigh Syndrome AZ Lim, R McFarland Diagnosis and Management of Mitochondrial Disorders, 151-167, 2019 | 2 | 2019 |
Broadening the Spectrum of SLC22A5 Phenotype: Primary Carnitine Deficiency Presenting with Focal Myoclonus M Khries, A Lim, D Mitra, M Anderson, J Bengtsson, A Bowron, E Harris, ... Child Neurology Open 10, 2329048X231184183, 2023 | 1 | 2023 |
Factors associated with the severity of COVID‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID‐19 Registry C Pizzamiglio, RDS Pitceathly, MP Lunn, S Brady, F De Marchi, L Galan, ... European Journal of Neurology 30 (2), 399-412, 2023 | 1 | 2023 |
P20 Impact on mode of delivery and early neonatal outcomes following fetal diagnosis of life-threatening congenital heart disease in the north east of england A Lim, P Moran, M Kontou, WNW Montil, M Abu-Harb, A McBrien Heart 102 (Suppl 1), A11-A11, 2016 | 1 | 2016 |
449 Improving the care of neurosurgical patients: a new teaching model for paediatric trainees C Angus, H Van Ruiten, A Lim, I Coulter Archives of Disease in Childhood 108 (Suppl 2), A409-A410, 2023 | | 2023 |