Jorge L Del-Aguila
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Explore the profile of Jorge L Del-Aguila including associated specialties, affiliations and a list of published articles.
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23
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2052
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Recent Articles
11.
Li Z, Del-Aguila J, Dube U, Budde J, Martinez R, Black K, et al.
Genome Med
. 2018 Jun;
10(1):43.
PMID: 29880032
Background: Alzheimer's disease (AD) is characterized by neuronal loss and astrocytosis in the cerebral cortex. However, the specific effects that pathological mutations and coding variants associated with AD have on...
12.
Fernandez M, Budde J, Del-Aguila J, Ibanez L, Deming Y, Harari O, et al.
Front Neurosci
. 2018 Apr;
12:209.
PMID: 29670507
Gene-based tests to study the combined effect of rare variants on a particular phenotype have been widely developed for case-control studies, but their evolution and adaptation for family-based studies, especially...
13.
Del-Aguila J, Fernandez M, Schindler S, Ibanez L, Deming Y, Ma S, et al.
J Alzheimers Dis
. 2018 Feb;
62(2):745-756.
PMID: 29480181
Many genetic studies for Alzheimer's disease (AD) have been focused on the identification of common genetic variants associated with AD risk and not on other aspects of the disease, such...
14.
Ibanez L, Dube U, Saef B, Budde J, Black K, Medvedeva A, et al.
BMC Neurol
. 2017 Nov;
17(1):198.
PMID: 29141588
Background: The genetic architecture of Parkinson's Disease (PD) is complex and not completely understood. Multiple genetic studies to date have identified multiple causal genes and risk loci. Nevertheless, most of...
15.
Shi Y, Yamada K, Liddelow S, Smith S, Zhao L, Luo W, et al.
Nature
. 2017 Sep;
549(7673):523-527.
PMID: 28959956
APOE4 is the strongest genetic risk factor for late-onset Alzheimer disease. ApoE4 increases brain amyloid-β pathology relative to other ApoE isoforms. However, whether APOE independently influences tau pathology, the other...
16.
Cruchaga C, Del-Aguila J, Saef B, Black K, Fernandez M, Budde J, et al.
Alzheimers Dement
. 2017 Sep;
14(2):205-214.
PMID: 28943286
Objective: To determine whether the extent of overlap of the genetic architecture among the sporadic late-onset Alzheimer's Disease (sLOAD), familial late-onset AD (fLOAD), sporadic early-onset AD (sEOAD), and autosomal dominant...
17.
Huang K, Marcora E, Pimenova A, Di Narzo A, Kapoor M, Jin S, et al.
Nat Neurosci
. 2017 Jun;
20(8):1052-1061.
PMID: 28628103
A genome-wide survival analysis of 14,406 Alzheimer's disease (AD) cases and 25,849 controls identified eight previously reported AD risk loci and 14 novel loci associated with age at onset. Linkage...
18.
Deming Y, Li Z, Kapoor M, Harari O, Del-Aguila J, Black K, et al.
Acta Neuropathol
. 2017 Mar;
133(5):839-856.
PMID: 28247064
More than 20 genetic loci have been associated with risk for Alzheimer's disease (AD), but reported genome-wide significant loci do not account for all the estimated heritability and provide little...
19.
Deming Y, Black K, Carrell D, Cai Y, Del-Aguila J, Fernandez M, et al.
BMC Neurol
. 2016 Nov;
16(1):217.
PMID: 27832767
Background: Alzheimer's disease (AD) pathology appears several years before clinical symptoms, so identifying ways to detect individuals in the preclinical stage is imperative. The cerebrospinal fluid (CSF) Tau/Aβ ratio is...
20.
Fernandez M, Black K, Carrell D, Saef B, Budde J, Deming Y, et al.
Eur J Hum Genet
. 2016 Sep;
24(12):1828-1830.
PMID: 27650968
The accumulation of the toxic Aβ peptide in Alzheimer's disease (AD) largely relies upon an efficient recycling of amyloid precursor protein (APP). Recent genetic association studies have described rare variants...