A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.

A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.

Item
http://www.wikidata.org/entity/Q48098476
Role of ROS and RNS Sources in Physiological and Pathological ConditionsReexamining Alzheimer's disease: evidence for a protective role for amyloid-beta protein precursor and amyloid-betaCleavage of amyloid precursor protein by an archaeal presenilin homologue PSHBACE1 elevation is associated with aberrant limbic axonal sprouting in epileptic CD1 mice.Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican Hispanics with dementiaGenetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations.Alzheimer disease pathology as a host responseFamilial 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.Compounding artefacts with uncertainty, and an amyloid cascade hypothesis that is 'too big to fail'.Is gene discovery research or diagnosis?Insulin promotes survival of amyloid-beta oligomers neuroblastoma damaged cells via caspase 9 inhibition and Hsp70 upregulation.A perfect storm: Converging paths of epilepsy and Alzheimer's dementia intersect in the hippocampal formation.Widespread white matter and conduction defects in PSEN1-related spastic paraparesis.Clinical and neuropathological findings in a patient with familial Alzheimer disease showing a mutation in the PSEN1 gene.A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas.
P2860

A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.

Item
http://www.wikidata.org/entity/Q48098476
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
A presenilin 1 mutation (L420R ...... , but not spastic paraparesis.
@en
A presenilin 1 mutation (L420R ...... , but not spastic paraparesis.
@nl
type
label
A presenilin 1 mutation (L420R ...... , but not spastic paraparesis.
@en
A presenilin 1 mutation (L420R ...... , but not spastic paraparesis.
@nl
prefLabel
A presenilin 1 mutation (L420R ...... , but not spastic paraparesis.
@en
A presenilin 1 mutation (L420R ...... , but not spastic paraparesis.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
A presenilin 1 mutation (L420R ...... , but not spastic paraparesis.
@en
P2093
P2860
P304
P31
P356
10.1111/J.1440-1789.2007.00766.X
P433
P478
P50
P577
P698
P921