Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
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A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer diseaseGenome-wide association studies in Alzheimer's diseaseTowards understanding the roles of heparan sulfate proteoglycans in Alzheimer's diseaseMutations, associated with early-onset Alzheimer's disease, discovered in Asian countriesAdditional mechanisms conferring genetic susceptibility to Alzheimer's diseaseNetwork Topology Analysis of Post-Mortem Brain Microarrays Identifies More Alzheimer's Related Genes and MicroRNAs and Points to Novel Routes for Fighting with the DiseaseChanged membrane integration and catalytic site conformation are two mechanisms behind the increased Aβ42/Aβ40 ratio by presenilin 1 familial Alzheimer-linked mutations.The presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia.Metals and cholesterol: two sides of the same coin in Alzheimer's disease pathology.Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.Clinical genetics of Alzheimer's diseaseMedial temporal atrophy in early and late-onset Alzheimer's disease.Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APPExome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's diseaseThe genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE.The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions.Genetics of Alzheimer diseaseMutation analysis of patients with neurodegenerative disorders using NeuroX arrayGenetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic CounselorsIdentification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia.New approaches to genetic counseling and testing for Alzheimer's disease and frontotemporal degenerationAPP, 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.Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.Amyloid-beta protein clearance and degradation (ABCD) pathways and their role in Alzheimer's disease.Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series.Alzheimer's disease: epidemiology, genetics, and beyond.Genetic aspects of Alzheimer diseaseGenetics of Alzheimer's disease: recent advances.It's complicated - Factors predicting decisional conflict in prenatal diagnostic testing.Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease.Advances and perspectives from genetic research: development of biological markers in Alzheimer's disease.Alzheimer's genetics in the GWAS era: a continuing story of 'replications and refutations'.Dementia, stroke, and vascular risk factors; a review.Genetics of dementia: update and guidelines for the clinician.Clinical, biological, and imaging features of monogenic Alzheimer's Disease.Genome research in pre-dementia stages of Alzheimer's disease.Autosomal-dominant Alzheimer's disease mutations at the same codon of amyloid precursor protein differentially alter Aβ production.
P2860
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P2860
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
@en
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
@nl
type
label
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
@en
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
@nl
prefLabel
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
@en
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
@nl
P2093
P356
P1476
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
@en
P2093
Frebourg T
Guyant-Maréchal L
Hannequin D
P304
P356
10.1136/JMG.2005.033456
P407
P577
2005-07-20T00:00:00Z