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Article

A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.

Neuropathology and applied neurobiology - 1 Jun 2014

Lashley Tammaryn, Rohrer Jonathan D, Mahoney Colin, Gordon Elizabeth, Beck Jon, Mead Simon, Warren Jason, Rossor Martin, Revesz Tamas

Abstract excerpt

AIMS: Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disease and is the second most common form of young onset dementia after Alzheimer's disease (AD). An autosomal dominant pattern of inheritance is present in around 25-50% of FTLD cases indicating a strong genetic c...

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Source

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Identifiers

PMID: 24286341
DOI: 10.1111/nan.12100
PMCID: PMC4260146

Genes

GRN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24286341-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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