Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.

Item
http://www.wikidata.org/entity/Q40238153
The presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia.Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes.Presenilin/gamma-Secretase and Inflammation.APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.Neuronal calcium mishandling and the pathogenesis of Alzheimer's diseaseFamilial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.Direct Conversion of Human Fibroblasts into Neural Progenitors Using Transcription Factors Enriched in Human ESC-Derived Neural Progenitors.Different clinical phenotypes in siblings with a presenilin-1 P264L mutation.A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-β Production and Tau Phosphorylation.A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas.Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer's disease.
P2860

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.

Item
http://www.wikidata.org/entity/Q40238153
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Biological effects of four PSE ...... resis and cotton wool plaques.
@en
type
label
Biological effects of four PSE ...... resis and cotton wool plaques.
@en
prefLabel
Biological effects of four PSE ...... resis and cotton wool plaques.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P356
P1433
P1476
Biological effects of four PSE ...... resis and cotton wool plaques.
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921