Jorge L Del-Aguila
Overview
Explore the profile of Jorge L Del-Aguila including associated specialties, affiliations and a list of published articles.
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Articles
23
Citations
2052
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Recent Articles
21.
Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status
Piccio L, Deming Y, Del-Aguila J, Ghezzi L, Holtzman D, Fagan A, et al.
Acta Neuropathol
. 2016 Jan;
131(6):925-33.
PMID: 26754641
Low frequency coding variants in TREM2 are associated with increased Alzheimer disease (AD) risk, while loss of functions mutations in the gene lead to an autosomal recessive early-onset dementia, named...
22.
Del-Aguila J, Fernandez M, Jimenez J, Black K, Ma S, Deming Y, et al.
Alzheimers Res Ther
. 2015 Dec;
7(1):73.
PMID: 26654793
Introduction: A recent study found a significant increase of ABCA7 loss-of-function variants in Alzheimer's disease (AD) cases compared to controls. Some variants were located on noncoding regions, but it was...
23.
Del-Aguila J, Koboldt D, Black K, Chasse R, Norton J, Wilson R, et al.
Curr Opin Genet Dev
. 2015 Aug;
33:49-55.
PMID: 26311074
Recent advances in sequencing technology and novel genotyping arrays (focused on low-frequency and coding variants) have made it possible to identify novel coding variants with large effect sizes and also...