All Outputs (10)

Heritability and genetic variance of dementia with Lewy bodies (2019)
Journal Article
Guerreiro, R., Escott-Price, V., Hernandez, D., Kun-Rodrigues, C., Ross, O., Orme, T., …Bras, J. (2019). Heritability and genetic variance of dementia with Lewy bodies. Neurobiology of Disease, 127, 492-501. https://doi.org/10.1016/j.nbd.2019.04.004

Recent large-scale genetic studies have allowed for the first glimpse of the effects of common genetic variability in dementia with
Lewy bodies (DLB), identifying risk variants with appreciable effect sizes. However, it is currently well established... Read More about Heritability and genetic variance of dementia with Lewy bodies.

A comprehensive screening of copy-number variability in dementia with Lewy bodies (2018)
Journal Article
Kun-Rodrigues, C., Orme, T., Carmona, S., Hernandez, D. G., Ross, O. A., Eicher, J. D., …Bras, J. (2019). A comprehensive screening of copy-number variability in dementia with Lewy bodies. Neurobiology of Aging, 75, 223.e1-223.e10. https://doi.org/10.1016/j.neurobiolaging.2018.10.019

The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable, however data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole genome genotyping of 1,454 DLB cases and 1,525 controls t... Read More about A comprehensive screening of copy-number variability in dementia with Lewy bodies.

A comprehensive assessment of benign genetic variability for neurodegenerative disorders (2018)
Journal Article
Guerreiro, R., Sassi, C., Gibbs, J., Edsall, C., Hernandez, D., Brown, K., Lupton, M., Parkinnen, L., Ansorge, O., Hodges, A., Ryten, M., Tienari, P., Van Deerlin, V., Trojanowski, J., Morgan, K., Powell, J., Singleton, A., Hardy, J., & Bras, J. (2018). A comprehensive assessment of benign genetic variability for neurodegenerative disorders. https://doi.org/10.1101/270686

Over the last few years, as more and more sequencing studies have been performed, it has become apparent that the identification of pathogenic mutations is, more often than not, a complex issue. Here, with a focus on neurodegenerative diseases, we ha... Read More about A comprehensive assessment of benign genetic variability for neurodegenerative disorders.

Mendelian adult-onset leukodystrophy genes in Alzheimer´s disease. Critical influence of CSF1R and NOTCH3 (2018)
Journal Article
Sassi, C., Nalls, M., Ridge, P., Gibbs, R., Lupton, M., Troakes, C., Lunnon, K., Al-Sarraj, S., Brown, K., Medway, C., Lord, J., Turton, J., Bras, J., Blumenau, S., Thielke, M., Josties, C., Freyer, D., Dietrich, A., Hammer, M., Baier, M., …Hardy, J. (in press). Mendelian adult-onset leukodystrophy genes in Alzheimer´s disease. Critical influence of CSF1R and NOTCH3. Neurobiology of Aging, 66, Article 179.e17-179.e29. https://doi.org/10.1016/j.neurobiolaging.2018.01.015

Mendelian adult-onset leukodystrophies are a spectrum of rare inherited progressive neurodegenerative disorders affecting the white matter of the central nervous system. Among these, Cerebral Autosomal Dominant and Recessive Arteriopathy with Subcort... Read More about Mendelian adult-onset leukodystrophy genes in Alzheimer´s disease. Critical influence of CSF1R and NOTCH3.

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study (2017)
Journal Article
Guerreiro, R., Ross, O. A., Kun-Rodrigues, C., Hernandez, D., Orme, T., Eicher, J. D., …Morgan, K. (2018). Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. Lancet Neurology, 17(1), 64-74. https://doi.org/10.1016/S1474-4422%2817%2930400-3

Background Dementia with Lewy bodies is the second most common form of dementia in elderly people but has been overshadowed in the research field, partly because of similarities between dementia with Lewy bodies, Parkinson’s disease, and Alzheimer’s... Read More about Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.

Rare coding variants in PLCG2, ABI3 and TREM2 implicate microglialmediated innate immunity in Alzheimer’s disease (2017)
Journal Article
Sims, R., van der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., …Morgan, K. (in press). Rare coding variants in PLCG2, ABI3 and TREM2 implicate microglialmediated innate immunity in Alzheimer’s disease. Nature Genetics, 49(9), https://doi.org/10.1038/ng.3916

We identified rare coding variants associated with Alzheimer's disease in a three-stage case–control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 ×... Read More about Rare coding variants in PLCG2, ABI3 and TREM2 implicate microglialmediated innate immunity in Alzheimer’s disease.

Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies (2016)
Journal Article
Kun-Rodrigues, C., Ross, O. A., Orme, T., Shepherd, C., Parkkinen, L., Darwent, L., …Bras, J. (in press). Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies. Neurobiology of Aging, https://doi.org/10.1016/j.neurobiolaging.2016.08.023

C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken in order to assess the role of C9orf72 repeat... Read More about Analysis of C9orf72 repeat expansions in a large international cohort of Dementia with Lewy Bodies.

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Alzheimer’s and Parkinson’s diseases (2016)
Journal Article
Guerreiro, R., Escott-Price, V., Darwent, L., Parkkinen, L., Ansorge, O., Hernandez, D., …Morgan, K. (2016). Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Alzheimer’s and Parkinson’s diseases. Neurobiology of Aging, 38, https://doi.org/10.1016/j.neurobiolaging.2015.10.028

The similarities between dementia with Lewy bodies (DLB) and both Parkinson's disease (PD) and Alzheimer's disease (AD) are many and range from clinical presentation, to neuropathological characteristics, to more recently identified, genetic determin... Read More about Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Alzheimer’s and Parkinson’s diseases.

Convergent genetic and expression data implicate immunity in Alzheimer's disease (2014)
Journal Article
Bossù, P., Tsuang, D. W., Lleò, A., Wallon, D., Todd, S., Dufouil, C., …Holmans, P. (2015). Convergent genetic and expression data implicate immunity in Alzheimer's disease. Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 11(6), 658-671. https://doi.org/10.1016/j.jalz.2014.05.1757

© 2015, Elsevier Inc. All rights reserved.

Background:

Late-onset Alzheimer's disease (AD) is heritable with 20 genes showing genome-wide association in the International Genomics of Alzheimer's Project (IGAP). To identify the biology underly... Read More about Convergent genetic and expression data implicate immunity in Alzheimer's disease.

Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions (2012)
Journal Article
Lord, J., Turton, J., Medway, C., Shi, H., Brown, K., Lowe, J., Mann, D., Pickering-Brown, S., Kalsheker, N., Passmore, P., & Morgan, K. (2012). Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions. International Journal of Molecular Epidemiology and Genetics, IJMEG, 3(4),

CLU, PICALM and CR1 were identified as genetic risk factors for late onset Alzheimer’s disease (AD) in two large genome wide association studies (GWAS) published in 2009, but the variants that convey this alteration in disease risk, and how the genes... Read More about Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions.