Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort
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 patients carryi... Mehr ...
Verfasser: | |
---|---|
Dokumenttyp: | journalarticle |
Erscheinungsdatum: | 2015 |
Schlagwörter: | Medicine and Health Sciences / Biology and Life Sciences / AMYOTROPHIC-LATERAL-SCLEROSIS / BINDING KINASE 1 / LOBAR DEGENERATION / REPEAT EXPANSION / HEXANUCLEOTIDE REPEAT / CRYSTAL-STRUCTURE / SQSTM1 / MUTATIONS / C9ORF72 / OPTINEURIN / ALS |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26917541 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://biblio.ugent.be/publication/8547526 |