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Document type:
journal article 
Author(s):
Baradaran-Heravi, Yalda; Dillen, Lubina; Nguyen, Hung Phuoc; Van Mossevelde, Sara; Baets, Jonathan; De Jonghe, Peter; Engelborghs, Sebastiaan; De Deyn, Peter P; Vandenbulcke, Mathieu; Vandenberghe, Rik; Van Damme, Philip; Cras, Patrick; Salmon, Eric; Synofzik, Matthis; Heutink, Peter; Wilke, Carlo; Simon-Sanchez, Javier; Rojas-Garcia, Ricard; Turon-Sans, Janina; Lleó, Alberto; Illán-Gala, Ignacio; Clarimón, Jordi; Borroni, Barbara; Padovani, Alessandro; Pastor, Pau; Diez-Fairen, Monica; Aguilar,...    »
 
Title:
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients. 
Abstract:
We evaluated the genetic contribution of the T cell-restricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. Exonic resequencing of TIA1 in 1120 patients (693 FTD, 341 ALS, 86 FTD-ALS) and 1039 controls identified in total 5 rare heterozygous missense variants, affecting the TIA1 low-complexity domain (LCD). Only 1 missense variant, p.Met290Thr, identified in a familial FTD patient with disease onset at...    »
 
Journal title abbreviation:
Neurobiol Aging 
Year:
2018 
Journal volume:
69 
Pages contribution:
293.e9-293.e11 
Language:
eng 
Print-ISSN:
0197-4580 
TUM Institution:
Klinik und Poliklinik für Psychiatrie und Psychotherapie