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

Genetic variability in CHMP2B and frontotemporal dementia.

Neuro-degenerative diseases - 1 Jan 2006

Momeni Parastoo, Rogaeva Ekaterina, Van Deerlin Vivianna, Yuan Wuxing, Grafman Jordan, Tierney Michael, Huey Edward, Bell Jason, Morris Chris M, Kalaria Rajesh N, van Rensburg Susan J, Niehaus Dana, Potocnik Felix, Kawarai Toshitaka, Salehi-Rad Shabnam, Sato Christine, St George-Hyslop Peter, Hardy John

Abstract excerpt

A nonsense/protein chain-terminating mutation in the CHMP2B gene has recently been reported as a cause of frontotemporal dementia (FTD) in the single large family known to show linkage to chromosome 3. Screening for mutations in this gene in a large series of FTD families and individual patients...

Read the complete abstract on PubMed

Topics

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

Share to Aged, 80 and over
Share to Amino Acid Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dementia

Share to Endosomal Sorting Complexes Required for Transport

Share to Molecular Sequence Data

Share to Nerve Tissue Proteins

Share to Pedigree

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 16954699
DOI: 10.1159/000094771

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16954699-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic variability in CHMP2B and frontotemporal dementia.PMID 16954699Read ↗

CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia.Semantic proximity Read ↗

Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family.Semantic proximity Read ↗

Frontotemporal dementia caused by CHMP2B mutations.Semantic proximity Read ↗

CHMP2B mutations are not a common cause of frontotemporal lobar degeneration.Semantic proximity Read ↗

Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival.Semantic proximity Read ↗

CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.Semantic proximity Read ↗

Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients.Semantic proximity Read ↗

No association of chromatin-modifying protein 2B with sporadic frontotemporal dementia.Semantic proximity Read ↗

Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B geneSemantic proximity Read ↗

A novel splice-site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review.Semantic proximity Read ↗

The role of CHMP2B in frontotemporal dementiaSemantic proximity Read ↗

TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3).Semantic proximity Read ↗

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