Publications — Radcliffe Department of Medicine

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POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Symonds JD. et al, (2024), Epilepsia

Metabolic profiling of aortic stenosis and hypertrophic cardiomyopathy identifies mechanistic contrasts in substrate utilization.

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

ELLIOTT K. et al, (2022)

Fine-scale genetic structure in the united arab emirates reflects endogamous and consanguineous culture, population history and geography.

Elliott KS. et al, (2022), Mol Biol Evol

Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.

Symonds JD. et al, (2021), Brain, 144, 2879 - 2891

Early-onset autoimmunity associated with SOCS1 haploinsufficiency.

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.

Parks T. et al, (2020), Genes Immun, 21, 63 - 70

Histological Evidence for Impaired Myocardial Perfusion Reserve in Severe Aortic Stenosis.

Mahmod M. et al, (2019), JACC Cardiovasc Imaging, 12, 2276 - 2278

Elevated risk of invasive group A streptococcal disease and host genetic variation in the human leukocyte antigen locus

Parks T. et al, (2019)

ENDOTHELIAL LOSS AS A CAUSE OF IMPAIRED MYOCARDIAL PERFUSION RESERVE IN SEVERE AORTIC STENOSIS

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

Chan K. et al, (2019), HEART, 105, A17 - A18

The interplay between metabolic alterations, diastolic strain rate and exercise capacity in mild heart failure with preserved ejection fraction: a cardiovascular magnetic resonance study.

Mahmod M. et al, (2018), J Cardiovasc Magn Reson, 20

Cardiomyopathies

Chan K. et al, (2018), Medicine (United Kingdom), 46, 606 - 617

Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion.

Ehsan M. et al, (2018), J Mol Cell Cardiol, 121, 287 - 296

MiR-184 expression is regulated by AMPK in pancreatic islets.

Martinez-Sanchez A. et al, (2018), FASEB J, 32, 2587 - 2600

ENERGETIC DEFICIENCY AND ADENOSINE RECEPTOR SIGNALLING IN CARDIAC FIBROSIS Abstracts

Stockenhuber A. et al, (2018), HEART, 104, A1 - A1

Mammalian γ2 AMPK regulates intrinsic heart rate.

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.

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.

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.

Cahill TJ. et al, (2016), J Biol Chem, 291

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