Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease.

Archives of neurology - 1 May 2010

Yu Chang-En, Marchani Elizabeth, Nikisch Georg, Müller Ulrich, Nolte Dagmar, Hertel Andreas, Wijsman Ellen M, Bird Thomas D

Abstract excerpt

OBJECTIVE: To connect a new family with early-onset Alzheimer disease (EOAD) in Germany to the American Volga German pedigrees. DESIGN: Pedigree molecular genetic analysis. SETTING: University Medical Centers in Fulda and Giessen, Germany, and in Seattle, Washington. RESULTS: The families from Fulda, Germany, and the American Volga German families with EOAD share the same N141I PSEN2 mutation on an identical...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to Alzheimer Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Founder Effect

Share to Germany

Share to Inheritance Patterns

Share to Presenilin-2

Share to Russia

Share to United States

Source

Open in PubMed Open full text

Identifiers

PMID: 20457965
DOI: 10.1001/archneurol.2010.87
PMCID: PMC3016011

Genes

PSEN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease.PMID 20457965Read ↗

Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease.Semantic proximity Read ↗

Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction.Semantic proximity Read ↗

Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N141I).Semantic proximity Read ↗

Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.Semantic proximity Read ↗

Apolipoprotein E genotype and neuropathological phenotype in two members of a German family with chromosome 14-linked early onset Alzheimer's disease.Semantic proximity Read ↗

Novel PS1 mutation in a Bavarian kindred with familial Alzheimer disease.Semantic proximity Read ↗

Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.Semantic proximity Read ↗

Evaluation of the Clinical Features Accompanied by the Gene Mutations: The 2 Novel PSEN1 Variants in a Turkish Early-onset Alzheimer Disease Cohort.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.