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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., …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.

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.

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 and Dementia, 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.