A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.
about
Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural predictionYoung onset dementiaGenetics, transcriptomics, and proteomics of Alzheimer's diseasePresenilin 1 interacts with acetylcholinesterase and alters its enzymatic activity and glycosylation.Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations.Correlating familial Alzheimer's disease gene mutations with clinical phenotype.The paradox of syndromic diversity in Alzheimer disease.Genetics of dementia: update and guidelines for the clinician.Two Novel Mutations in the First Transmembrane Domain of Presenilin1 Cause Young-Onset Alzheimer's Disease.Neurons derived from sporadic Alzheimer's disease iPSCs reveal elevated TAU hyperphosphorylation, increased amyloid levels, and GSK3B activation.Clinical picture of a patient with a novel PSEN1 mutation (L424V).Neuropsychological study of familial Alzheimer's disease caused by mutation E280A in the presenilin 1 gene.Early psychiatrics symptoms in familial Alzheimer's disease with presenilin 1 mutation (I83T).
P2860
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P2860
A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.
description
2002 nî lūn-bûn
@nan
2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
A novel mutation (V89L) in the ...... rked behavioural disturbances.
@ast
A novel mutation (V89L) in the ...... rked behavioural disturbances.
@en
type
label
A novel mutation (V89L) in the ...... rked behavioural disturbances.
@ast
A novel mutation (V89L) in the ...... rked behavioural disturbances.
@en
prefLabel
A novel mutation (V89L) in the ...... rked behavioural disturbances.
@ast
A novel mutation (V89L) in the ...... rked behavioural disturbances.
@en
P2093
P50
P356
P1476
A novel mutation (V89L) in the ...... arked behavioural disturbances
@en
P2093
P304
P356
10.1136/JNNP.72.2.266
P407
P577
2002-02-01T00:00:00Z