TREM2 and neurodegenerative disease
Benitez, BA, and C Cruchaga. 2013. “TREM2 and Neurodegenerative Disease”. N Engl J Med.
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The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk
Deming, Y, F Filipello, F Cignarella, C Cantoni, S Hsu, R Mikesell, X Li, et al. 2019. “The MS4A Gene Cluster Is a Key Modulator of Soluble TREM2 and Alzheimer’s Disease Risk”. Sci Transl Med.
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Cellular Atlas of Parkinson Disease
Detailed molecular characterization of cell-specific transcriptomic states throughout multiple brain regions beyond nigrostriatal dopaminergic degeneration will provide mechanistic insights into motor and non-motor PD symptoms. We will integrate neuropathology and snRNA-Seq data to identify a...
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Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis
Benitez, BA, Alvarado D, Y Cai, K Mato, and S Chakraverty. 2011. “Exome-Sequencing Confirms DNAJC5 Mutations As Cause of Adult Neuronal Ceroid-Lipofuscinosis”. PLoS One.
Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease
Benitez, BA, AA Davis, SC Jin, L Ibanez, S Ortega-Cubero, P Pastor, J Choi, B Cooper, JS Perlmutter, and C Cruchaga. 2016. “Resequencing Analysis of Five Mendelian Genes and the Top Genes from Genome-Wide Association Studies in Parkinson’s Disease”. Mol Neurodegener.
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Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease
Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease | Acta Neuropathologica Communications | Full Text (biomedcentral.com)