POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.
Journal article
Symonds JD. et al, (2024), Epilepsia
Metabolic profiling of aortic stenosis and hypertrophic cardiomyopathy identifies mechanistic contrasts in substrate utilization.
Journal article
Pal N. et al, (2024), FASEB J, 38
Fine-scale genetic structure in the united arab emirates reflects endogamous and consanguineous culture, population history and geography
Conference paper
ELLIOTT K. et al, (2022)
Fine-scale genetic structure in the united arab emirates reflects endogamous and consanguineous culture, population history and geography.
Journal article
Elliott KS. et al, (2022), Mol Biol Evol
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.
Journal article
Symonds JD. et al, (2021), Brain, 144, 2879 - 2891
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
Journal article
Hadjadj J. et al, (2020), Nat Commun, 11
Elevated risk of invasive group A streptococcal disease and host genetic variation in the human leucocyte antigen locus.
Journal article
Parks T. et al, (2020), Genes Immun, 21, 63 - 70
Histological Evidence for Impaired Myocardial Perfusion Reserve in Severe Aortic Stenosis.
Journal article
Mahmod M. et al, (2019), JACC Cardiovasc Imaging, 12, 2276 - 2278
ENDOTHELIAL LOSS AS A CAUSE OF IMPAIRED MYOCARDIAL PERFUSION RESERVE IN SEVERE AORTIC STENOSIS
Conference paper
Chan K. et al, (2019), HEART, 105, A100 - A101
ENDOTHELIAL LOSS AS A CAUSE OF IMPAIRED MYOCARDIAL PERFUSION RESERVE ON CMR IN SEVERE AORTIC STENOSIS
Conference paper
Chan K. et al, (2019), HEART, 105, A17 - A18
Elevated risk of invasive group A streptococcal disease and host genetic variation in the human leukocyte antigen locus
Journal article
Parks T. et al, (2019)
The interplay between metabolic alterations, diastolic strain rate and exercise capacity in mild heart failure with preserved ejection fraction: a cardiovascular magnetic resonance study.
Journal article
Mahmod M. et al, (2018), J Cardiovasc Magn Reson, 20
Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion.
Journal article
Ehsan M. et al, (2018), J Mol Cell Cardiol, 121, 287 - 296
MiR-184 expression is regulated by AMPK in pancreatic islets.
Journal article
Martinez-Sanchez A. et al, (2018), FASEB J, 32, 2587 - 2600
ENERGETIC DEFICIENCY AND ADENOSINE RECEPTOR SIGNALLING IN CARDIAC FIBROSIS Abstracts
Conference paper
Stockenhuber A. et al, (2018), HEART, 104, A1 - A1
Mammalian γ2 AMPK regulates intrinsic heart rate.
Journal article
Yavari A. et al, (2017), Nat Commun, 8
Aggressive restenosis after percutaneous intervention in two coronary loci in a patient with human immunodeficiency virus infection.
Journal article
Alkhalil M. et al, (2017), World J Clin Cases, 5, 40 - 45
Human Second Window Pre-Conditioning and Post-Conditioning by Nitrite Is Influenced by a Common Polymorphism in Mitochondrial Aldehyde Dehydrogenase.
Journal article
Ormerod JOM. et al, (2017), JACC Basic Transl Sci, 2, 13 - 21
Resistance of dynamin-related protein 1 oligomers to disassembly impairs mitophagy, resulting in myocardial inflammation and heart failure.
Journal article
Cahill TJ. et al, (2016), J Biol Chem, 291