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

Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease

16 Jun 2004

Abstract excerpt

OBJECTIVE: To describe a novel missense mutation, Asp678Asn (D678N), in the amyloid precursor protein (APP) gene in a Japanese pedigree of probable familial Alzheimer's disease (FAD). SUBJECT: The proband was a women of 72. Symptoms of dementia that fulfilled the criteria for probable Alzheimer's disease appeared at about 60 years of age, and slowly worsened over more than 10 years without evident cerebrovascular...

Read the complete abstract on PubMed

Topics

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

Share to Alzheimer's disease research and treatments
Share to Amyotrophic Lateral Sclerosis Research
Share to Dementia and Cognitive Impairment Research

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

Source

Identifiers

PMID: 15201367
DOI: 10.1136/jnnp.2003.010611

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 · 12 closest

Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's diseasePMID 15201367Read ↗

Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene.Semantic proximity Read ↗

Monogenetic determinants of Alzheimer's disease: APP mutations.Semantic proximity Read ↗

Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene.Semantic proximity Read ↗

Screening Alzheimer's disease patients for mutations in the amyloid precursor protein gene.Semantic proximity Read ↗

Phenotypic variability in early-onset dementia segregating with a novel APP (p.I718M) variant.Semantic proximity Read ↗

A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid.Semantic proximity Read ↗

Good gene, bad gene: new APP variant may be both.Semantic proximity Read ↗

A mutation in the Amyloid Precursor Protein Associated with Hereditary Alzheimer's DiseaseSemantic proximity Read ↗

Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's diseaseSemantic proximity Read ↗

Amyloid precursor protein mutation causes Alzheimer's disease in a Swedish family.Semantic proximity Read ↗

Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population.Semantic proximity Read ↗

Screening for the beta-amyloid precursor protein mutation (APP717: Val----Ile) in extended pedigrees with early onset Alzheimer's disease.Semantic proximity Read ↗

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