TBK1 is associated with ALS and ALS-FTD in Sardinian patients.

doi:10.1016/j.neurobiolaging.2016.03.028

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Article

TBK1 is associated with ALS and ALS-FTD in Sardinian patients.

Neurobiology of aging - 1 Jul 2016

Borghero Giuseppe, Pugliatti Maura, Marrosu Francesco, Marrosu Maria Giovanna, Murru Maria Rita, Floris Gianluca, Cannas Antonino, Occhineri Patrizia, Cau Tea B, Loi Daniela, Ticca Anna, Traccis Sebastiano, Manera Umberto, Canosa Antonio, Moglia Cristina, Calvo Andrea, Barberis Marco, Brunetti Maura, Gibbs J Raphael, Renton Alan E, Errichiello Edoardo, Zoledziewska Magdalena, Mulas Antonella, Qian Yong, Din Jun, Pliner Hannah A, Traynor Bryan J, Chiò Adriano

Abstract excerpt

Recently, mutations in the TANK-binding kinase 1 (TBK1) gene were identified as a cause for amyotrophic lateral sclerosis (ALS) with or without comorbid frontotemporal dementia. We have assessed the frequency and clinical characteristics of TBK1 mutations in a cohort of ALS patients of Sardinian ancestry. Whole-exome sequencing was performed on Hiseq2000 platform (Illumina). Genome analysis Toolkit was used to...

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Identifiers

PMID: 27156075
DOI: 10.1016/j.neurobiolaging.2016.03.028
PMCID: PMC8961272

Genes

TBK1
SQSTM1
TANK

Variants

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.

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