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Title:

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Document type:
Journal Article; Article
Author(s):
van der Zee, Julie; Gijselinck, Ilse; Van Mossevelde, Sara; Perrone, Federica; Dillen, Lubina; Heeman, Bavo; Bäumer, Veerle; Engelborghs, Sebastiaan; De Bleecker, Jan; Baets, Jonathan; Gelpi, Ellen; Rojas-García, Ricardo; Clarimón, Jordi; Lleó, Alberto; Diehl-Schmid, Janine; Alexopoulos, Panagiotis; Perneczky, Robert; Synofzik, Matthis; Just, Jennifer; Schöls, Ludger; Graff, Caroline; Thonberg, Hakan; Borroni, Barbara; Padovani, Alessandro; Jordanova, Albena; Sarafov, Stayko; Tournev, Ivailo; de...     »
Abstract:
We investigated the mutation spectrum of the TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within the European Early-Onset Dementia Consortium. We assessed pathogenicity of predicted protein-truncating mutations by measuring loss of RNA expression. Functional effect of in-frame amino acid deletions and missen...     »
Journal title abbreviation:
Hum Mutat
Year:
2017
Journal volume:
38
Journal issue:
3
Pages contribution:
297-309
Language:
eng
Fulltext / DOI:
doi:10.1002/humu.23161
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/28008748
Print-ISSN:
1059-7794
TUM Institution:
Klinik und Poliklinik für Psychiatrie und Psychotherapie
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