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Article

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2018

Blauwendraat Cornelis, Wilke Carlo, Simón-Sánchez Javier, Jansen Iris E, Reifschneider Anika, Capell Anja, Haass Christian, Castillo-Lizardo Melissa, Biskup Saskia, Maetzler Walter, Rizzu Patrizia, Heutink Peter, Synofzik Matthis

Abstract excerpt

PurposeTo define the genetic spectrum and relative gene frequencies underlying clinical frontotemporal dementia (FTD).MethodsWe investigated the frequencies and mutations in neurodegenerative disease genes in 121 consecutive FTD subjects using an unbiased, combined sequencing approach, complemented by cerebrospinal fluid Aβ1-42 and serum progranulin measurements. Subjects were screened for C9orf72 repeat...

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Identifiers

PMID: 28749476
DOI: 10.1038/gim.2017.102
PMCID: PMC5846812

Genes

GRN
MAPT
CHCHD10
CTSF
PSEN1
PSEN2
SQSTM1
TARDBP
TBK1
UBQLN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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