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Albert Lim
Albert Lim
Paediatric neurology doctor and researcher
在 newcastle.ac.uk 的电子邮件经过验证
标题
引用次数
引用次数
年份
Current and emerging clinical treatment in mitochondrial disease
RJ Tinker, AZ Lim, RJ Stefanetti, R McFarland
Molecular diagnosis & therapy 25, 181-206, 2021
592021
The mitochondrial epilepsies
A Lim, RH Thomas
European journal of paediatric neurology 24, 47-52, 2020
572020
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
422019
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
412019
Epidemiology of mitochondrial disease
A Schaefer, A Lim, G Gorman
Diagnosis and management of mitochondrial disorders, 63-79, 2019
312019
Kikuchi‐Fujimoto disease: a case report and literature review
V Veer, A Lim, W Issing
Case reports in Otolaryngology 2012 (1), 497604, 2012
302012
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
212019
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
202022
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
192022
Diagnosis and management of mitochondrial disorders
M Mancuso, T Klopstock
Springer, 2019
172019
Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes
SL Stenton, M Shimura, D Piekutowska-Abramczuk, P Freisinger, ...
medRxiv, 2021.06. 21.21259171, 2021
112021
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
92020
RRM2B mitochondrial DNA maintenance defects
AZ Lim, R McFarland, RW Taylor, GS Gorman
82021
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
42021
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
32019
Leigh Syndrome
AZ Lim, R McFarland
Diagnosis and Management of Mitochondrial Disorders, 151-167, 2019
22019
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
12023
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
12023
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
12016
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
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