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Abbreviation : PSEN1
Long Form : presenilin 1 gene
No. Year Title Co-occurring Abbreviation
2018 Neuropathology and biochemistry of early onset familial Alzheimer's disease caused by presenilin-1 missense mutation Thr116Asn. FAD
2017 Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia. ---
2017 Influence of low frequency PSEN1 variants on familial Alzheimer's disease risk in Brazil. AD, APOE
2017 Very early-onset sporadic Alzheimer's disease with a de novo mutation in the PSEN1 gene. ---
2016 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. CERAD, FAD, MCI, ROC
2016 Expression of the Alzheimer's Disease Mutations AbetaPP695sw and PSEN1M146I in Double-Transgenic Gottingen Minipigs. AbetaPP, PSEN1M146I, PSEN2
2016 Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a M146I mutation in PSEN1. AD, iPSCs
2016 Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1. AD, iPSCs
2013 Clinical and neuropathological findings in a patient with familial Alzheimer disease showing a mutation in the PSEN1 gene. AD
10  2013 Mutant presenilin 1 expression in excitatory neurons impairs enrichment-mediated phenotypes of adult hippocampal progenitor cells. AHNPCs, EE, FAD, PS1
11  2012 A novel PSEN1 H163P mutation in a patient with early-onset Alzheimer's disease: clinical, neuroimaging, and neuropathological findings. ---
12  2012 Different clinical phenotypes in siblings with a presenilin-1 P264L mutation. AD
13  2011 Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome? AD
14  2011 Specific Silencing of L392V PSEN1 Mutant Allele by RNA Interference. RNAi, siRNAs
15  2009 A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype. PSEN2
16  2007 A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease. AD
17  2007 A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis. EOAD, SP
18  2007 Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype. ---
19  2007 Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene. AD, EOAD, PS1
20  2006 Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene. ---
21  2004 A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis. FAD-SP
22  2004 Effects of RNA interference-mediated silencing of gamma-secretase complex components on cell sensitivity to caspase-3 activation. PS1, PS1, RNAi
23  2004 Genetic aspects of Alzheimer's disease. AD, ApoE4, APP, EOAD, LOAD, PSEN2
24  2004 New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism. ---
25  2003 Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu). ---
26  2002 A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum. ---
27  1999 DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations. AD, DGGE, EOAD
28  1997 Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease. ---