All Outputs (3)

Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer’s disease (2017)
Journal Article
Patel, T., Brookes, K. J., Turton, J., Chaudhury, S., Guetta-Baranes, T., Guerreiro, R., …Morgan, K. (2019). Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer’s disease. Neuropathology and Applied Neurobiology, 44(5), 506-521. https://doi.org/10.1111/nan.12452

Aim: Late-onset Alzheimer’s disease (LOAD) accounts for 95% of all Alzheimer’s cases and is genetically complex in nature. Overlapping clinical and neuropathological features between AD, FTD and Parkinson’s disease highlight the potential role of gen... Read More about Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer’s disease.

Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer’s disease (2017)
Journal Article
Chaudhary, S., Patel, T., Barber, I. S., Guetta-Baranes, T., Brookes, K., Chappell, S., …Morgan, K. (2018). Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer’s disease. Neurobiology of Aging, 62, Article 244. https://doi.org/10.1016/j.neurobiolaging.2017.09.035

Sporadic early onset Alzheimer’s disease (sEOAD) exhibits the symptoms of late onset Alzheimer’s disease (LOAD) but lacks the familial aspect of the early onset familial form. The genetics of Alzheimer’s disease (AD) identifies APOEε4 to be the great... Read More about Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer’s disease.

Methylation profiling RIN3 and MEF2C identifies epigenetic marks associated with sporadic early onset Alzheimer’s disease (2017)
Journal Article
Boden, K. A., Barber, I. S., Clement, N., Patel, T., Guetta-Baranes, T., Brookes, K., …Bottley, A. (2017). Methylation profiling RIN3 and MEF2C identifies epigenetic marks associated with sporadic early onset Alzheimer’s disease. Journal of Alzheimer's Disease Reports, 1(1), https://doi.org/10.3233/ADR-170015

A number of genetic loci associate with early onset Alzheimer’s disease (EOAD), however the drivers of this disease remains enigmatic. Genome wide association and in-vivo modelling have shown that loss-of-function e.g. ABCA7, reduced levels of SIRT1,... Read More about Methylation profiling RIN3 and MEF2C identifies epigenetic marks associated with sporadic early onset Alzheimer’s disease.