Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort
Abstract: Objective: To assess the genetic contribution of TBK1, a gene implicated in amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and FTD-ALS, in Belgian FTD and ALS patient cohorts containing a significant part of genetically unresolved patients. Methods: We sequenced TBK1 in a hospital-based cohort of 482 unrelated patients with FTD and FTD-ALS and 147 patients with ALS and an extended Belgian FTD-ALS family DR158. We followed up mutation carriers by segregation studies, transcript and protein expression analysis, and immunohistochemistry. Results: We identified 11 pa... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2015 |
Schlagwörter: | Biology / Human medicine |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26496058 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://hdl.handle.net/10067/1290130151162165141 |