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Article

Frequency of progranulin mutations in a German cohort of 79 frontotemporal dementia patients.

Journal of neurology - 1 Dec 2009

Schlachetzki Johannes Carolus Magnus, Schmidtke Klaus, Beckervordersandforth Jan, Borozdin Wiktor, Wilhelm Christian, Hüll Michael, Kohlhase Jürgen

Abstract excerpt

Mutations of the progranulin gene lead to progranulin haploinsufficiency and to frontotemporal lobar degeneration (FTD) with TDP-43 positive inclusions. It is assumed that unknown genetic, epigenetic and environmental factors are responsible for the observed marked degree of phenotypic variabilit...

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Identifiers

PMID: 19618231
DOI: 10.1007/s00415-009-5248-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19618231-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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