• Age-related neurochemical and behavioural changes in D409V/WT GBA1 mouse: Relevance to lewy body dementia 

  Ballard, Clive (Elsevier Science, 2019-10)

  Heterozygous mutations in GBA1, the gene which encodes the lysosomal enzyme glucocerebrosidase (GCase), are a strong genetic risk factor for the development of Lewy body dementia (LBD). Until this point however, recapitulation ...

• Obesity and Longer Term Risks of Dementia in 65-74 Year Olds 

  Melzer, David (Oxford University Press, 2019-05-01)

  Background: overweight or obesity at ages <65 years associates with increased dementia incidence, but at ≥65 years estimates are paradoxical. Weight loss before dementia diagnosis, plus smoking and diseases causing weight ...

• Commentary: Opportunities for Combination Trials 

  Ballard, Clive (Springer, 2019)

• Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances 

  Frayling, Timothy; Yaghootkar, Hanieh (eLife Sciences Publications Ltd., 2019-01-15)

  We use a genome-wide association of 1 million parental lifespans of genotyped subjects and data on mortality risk factors to validate previously unreplicated findings near CDKN2B-AS1, ATXN2/BRAP, FURIN/FES, ZW10, PSORS1C3, ...

• Contralateral fatigue during severe-intensity single-leg exercise: influence of acute acetaminophen ingestion 

  Bailey, S. J.; Fulford, J.; Vanhatalo, A. (Atypon, 2019-08-01)

  Exhaustive single-leg exercise has been suggested to reduce time to task failure (Tlim) during subsequent exercise in the contralateral leg by exacerbating central fatigue development. We investigated the influence of ...

• Genome-wide DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic autism in post-mortem human brain tissue 

  Smith, Rebecca; Hannon, Eilis; Mill, Jonathan (Oxford University Press, 2019-07-01)

  Autism spectrum disorder (ASD) encompasses a collection of complex neuropsychiatric disorders characterized by deficits in social functioning, communication and repetitive behaviour. Building on recent studies supporting ...

• Juvenile diabetes and visual impairment: Wolfram syndrome 

  Ellard, Sian; De Franco, Elisa (PubMed Central, 2019-10-01)

• Improved RE31 Analogues Containing Modified Nucleic Acid Monomers: Thermodynamic, Structural, and Biological Effects 

  Scotton, C. J. (American Chemical Society, 2019-03-14)

  RE31 is a 31-nt DNA aptamer, consisting of the G-quadruplex and a duplex domain, which is able to effectively prolong thrombin time. This article reports on the influence of certain modified nucleotide residues on thermodynamic ...

• Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: descriptive characteristics of the epidemiological studies within the IMI DIRECT Consortium 

  Hudson, Michelle; Perry, Mandy; Hattersley, Andrew T.; McDonald, Timothy J. (Springer, 2019-09)

  Aims/hypothesis: Here, we describe the characteristics of the Innovative Medicines Initiative (IMI) Diabetes Research on Patient Stratification (DIRECT) epidemiological cohorts at baseline and follow-up examinations (18, ...

• Using genetics to understand the causal influence of higher BMI on depression 

  Tyrrell, Jessica; Wood, A. R.; Beaumont, Robin N.; Tuke, M. A.; Jones, S. E.; Ruth, K. S.; Yaghootkar, Hanieh; Sharp, Seth; Thompson, W.; Freathy, Rachel M.; Murray, Anna; Weedon, M. N.; Lewis, Cathryn; Frayling, Timothy M. (Oxford University Press, 2019-06-01)

  Background: Depression is more common in obese than non-obese individuals, especially in women, but the causal relationship between obesity and depression is complex and uncertain. Previous studies have used genetic variants ...

• Advanced cerebral amyloid angiopathy and small vessel disease are associated with psychosis in Alzheimer's disease 

  Ballard, Clive (BMJ, 2019-06)

• Variation in the Plasma Membrane Monoamine Transporter (PMAT) (Encoded by SLC29A4) and Organic Cation Transporter 1 (OCT1) (Encoded by SLC22A1) and Gastrointestinal Intolerance to Metformin in Type 2 Diabetes: An IMI DIRECT Study 

  Jones, Angus G. (the American Diabetes Association, 2019-06)

  Objective: Gastrointestinal adverse effects occur in 20-30% of patients with metformin-treated type 2 diabetes, leading to premature discontinuation in 5-10% of the cases. Gastrointestinal intolerance may reflect localized ...

• The transcript expression levels of HNRNPM, HNRNPA0 and AKAP17A splicing factors may be predictively associated with ageing phenotypes in human peripheral blood 

  Lee, B. P.; Pilling, L. C.; Melzer, David; Harries, L. W. (Springer, 2019-10)

  Dysregulation of splicing factor expression is emerging as a driver of human ageing; levels of transcripts encoding splicing regulators have previously been implicated in ageing and cellular senescence both in vitro and ...

• Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data 

  Wright, Caroline F. (Elsevier Science, 2019-11-07)

  Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the ...

• Deep and Frequent Phenotyping study protocol: an observational study in prodromal Alzheimer's disease 

  Ballard, Clive (BMJ, 2019-03-23)

  Introduction: Recent failures of potential novel therapeutics for Alzheimer's disease (AD) have prompted a drive towards clinical studies in prodromal or preclinical states. However, carrying out clinical trials in early ...

• Montmorency cherry supplementation attenuates vascular dysfunction induced by prolonged forearm occlusion in overweight, middle-aged men 

  Fulford, Jon; Gates, Phillip E. (Atypon, 2019-01-01)

  Flavonoid supplementation improves brachial artery flow-mediated dilation (FMD), but it is not known whether flavonoids protect against vascular dysfunction induced by ischemia-reperfusion (IR) injury and associated ...

• Cellular stressors may alter islet hormone cell proportions by moderation of alternative splicing patterns 

  Richardson, Sarah; Morgan, Noel; Harries, L. W. (Oxford University Press, 2019-08-15)

  Changes to islet cell identity in response to type 2 diabetes (T2D) have been reported in rodent models, but are less well characterized in humans. We assessed the effects of aspects of the diabetic microenvironment on ...

• The prevalence and clinical features of epileptic seizures in a memory clinic population 

  Baker, John; Libretto, Tina; Henley, W. E.; Zeman, Adam (Elsevier Science, 2019-10)

  Purpose: To determine the prevalence and clinical features of epileptic seizures occurring in a memory clinic population. Method: We recruited patients receiving a diagnosis of dementia or mild cognitive impairment (MCI) ...

• Drug repurposing for Alzheimer's disease based on transcriptional profiling of human iPSC-derived cortical neurons 

  Ballard, Clive (Nature Publishing Group, 2019-09-06)

  Alzheimer's disease is a complex disorder encompassing multiple pathological features with associated genetic and molecular culprits. However, target-based therapeutic strategies have so far proved ineffective. The aim of ...

• Open-Label, Multicenter, Phase III Extension Study of Idalopirdine as Adjunctive to Donepezil for the Treatment of Mild-Moderate Alzheimer's Disease 

  Ballard, Clive (IOS Press, 2019)

  This open-label extension study evaluated the long-term safety and tolerability of idalopirdine 60 mg/day as adjunctive therapy in patients with mild-moderate Alzheimer's disease (AD). This extension study was a continuation ...

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