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■ Search Result - Abbreviation : PSEN1

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Abbreviation: PSEN1
Appearance Frequency: 289 time(s)
Long forms: 5

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Long Form No. Long Form Research Area Co-occurring Abbreviation PubMed/MEDLINE Info. (Year, Title)
presenilin 1
(258 times)
Neurology
(147 times)
AD (118 times)
APP (84 times)
PSEN2 (78 times)
1997 No association or linkage between an intronic polymorphism of presenilin-1 and sporadic or late-onset familial Alzheimer disease.
presenilin 1 gene
(28 times)
Neurology
(20 times)
AD (10 times)
EOAD (4 times)
PS1 (4 times)
1997 Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease.
penetrant early-onset AD: Presenilin 1
(1 time)
Genetics
(1 time)
AD (1 time)
APP (1 time)
PSEN2 (1 time)
2006 Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families.
presenilin-1 protein
(1 time)
Nerve Degeneration
(1 time)
AD (1 time)
2016 The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.
PSEN1 mutation carriers
(1 time)
Geriatrics
(1 time)
CSF (1 time)
CTh (1 time)
EOAD (1 time)
2012 PSEN1 mutation carriers present lower cerebrospinal fluid amyoid-beta42 levels than sporadic early-onset Alzheimer's disease patients but no differences in neuronal injury biomarkers.