rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
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BEFREE |
We clinically characterized and whole-exome genotyped 71 individuals with AD from the Paisa genetic isolate, segregating the (PSEN1) E280A dominant fully penetrant mutation, and analyzed the potential recessive effects of ~ 50,000 common functional genomic variants to the ADAOO.
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31664702 |
2020 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
|
BEFREE |
The most common mutation in the PSEN1 gene is the E280A mutation. iPSCs are an optimal choice for modeling AD, as they can be differentiated in vitro into neural cells.
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30769329 |
2019 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
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BEFREE |
WITHDRAWN: Mental Disorders in Young Adults from Families with the Presenilin-1 Gene Mutation E280A in the Preclinical Stage of Alzheimer's Disease.
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31381509 |
2019 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
|
BEFREE |
Precuneus Failures in Subjects of the PSEN1 E280A Family at Risk of Developing Alzheimer's Disease Detected Using Quantitative Electroencephalography.
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28550254 |
2017 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
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BEFREE |
A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease.
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26949549 |
2016 |
rs63750231
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Alzheimer's Disease
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|
0.100 |
GeneticVariation
|
BEFREE |
We assessed underlying electrophysiological modulations in patients with mild cognitive impairment (MCI), patients in the MCI stages of familial AD carrying the mutation E280A of the presenilin-1 gene (MCI-FAD), and healthy controls.
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27372640 |
2016 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
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BEFREE |
Diagnostic accuracy of CERAD total score in a Colombian cohort with mild cognitive impairment and Alzheimer's disease affected by E280A mutation on presenilin-1 gene.
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26478578 |
2016 |
rs63750231
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Alzheimer's Disease
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|
0.100 |
GeneticVariation
|
BEFREE |
This is the first study demonstrating that the APOE*E2 allele modifies the natural history of AD typified by the age of onset in E280A mutation carriers.
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26619808 |
2016 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
|
BEFREE |
Cross-sectional measures of 18F-florbetapir positron emission tomography, 18F-fludeoxyglucose positron emission tomography, structural magnetic resonance imaging, cerebrospinal fluid (CSF), and plasma biomarkers of AD were assessed from 54 PSEN1 E280A kindred members (age range, 20-59 years).
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25580592 |
2015 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
|
BEFREE |
The findings support the notion that a deficit in the mechanism responsible for coordinating the performance of two tasks may be a clinical marker for the early detection of AD due to the E280A presenilin-1 gene mutation.
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25352452 |
2015 |
rs63750231
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Alzheimer's Disease
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|
0.100 |
GeneticVariation
|
BEFREE |
We capitalized on longitudinal data collected from 1995 to 2010 from cognitively unimpaired presenilin 1 (PSEN1) E280A mutation carriers from the world's largest known early-onset autosomal dominant Alzheimer's disease kindred to identify a composite cognitive test with the greatest statistical power to track preclinical Alzheimer's disease decline and estimate the number of carriers age 30 years and older needed to detect a treatment effect in the Alzheimer's Prevention Initiative's (API) preclinical Alzheimer's disease treatment trial.
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24816373 |
2014 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
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BEFREE |
Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease.
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22710270 |
2013 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
|
BEFREE |
Brain imaging and fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the presenilin 1 E280A kindred: a case-control study.
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23137948 |
2012 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
|
BEFREE |
Florbetapir PET analysis of amyloid-β deposition in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional study.
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23137949 |
2012 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
|
BEFREE |
The findings support the notion that a deficit in the coordination mechanism of the central executive may be a pre-clinical marker for the early detection of AD due to the E280A presenilin-1 gene mutation.
|
22133015 |
2012 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
|
BEFREE |
Deposition of hyperphosphorylated tau in cerebellum of PS1 E280A Alzheimer's disease.
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21159009 |
2011 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
|
BEFREE |
We used a neuropsychological battery and a short-term memory binding task to assess patients with sporadic Alzheimer's disease (Experiment 1), familial Alzheimer's disease (Experiment 2) due to the mutation E280A of the Presenilin-1 gene and asymptomatic carriers of the mutation.
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21435348 |
2011 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
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BEFREE |
To identify individuals at risk for Alzheimer disease (AD) we used high-density ERPs to examine brain physiology in young presymptomatic individuals (average age 34.2 years) who carry the E280A mutation in the presenilin-1 (PSEN1) gene and will go on to develop AD around the age of 45.
|
21775732 |
2011 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
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BEFREE |
ERP generator anomalies in presymptomatic carriers of the Alzheimer's disease E280A PS-1 mutation.
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19650138 |
2010 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
|
BEFREE |
Presenilin-1 280Glu-->Ala mutation alters C-terminal APP processing yielding longer abeta peptides: implications for Alzheimer's disease.
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18317569 |
2008 |
rs63750231
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Alzheimer's Disease
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0.100 |
GeneticVariation
|
BEFREE |
DNA was available from 114 carriers of the E280A PS1 mutation, including 52 subjects with AD.
|
12891668 |
2003 |
rs63750231
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Alzheimer's Disease
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|
0.100 |
GeneticVariation
|
BEFREE |
E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles.
|
9298817 |
1997 |