Article
Association of the New Variant Tyr424Asp at TBK1 Gene with Amyotrophic Lateral Sclerosis and Cognitive Decline.
Journal of Alzheimer's disease : JAD - 1 Jan 2018
Piaceri Irene, Bessi Valentina, Matà Sabrina, Polito Cristina, Tedde Andrea, Berti Valentina, Bagnoli Silvia, Braccia Arianna, Del Mastio Monica, Pignone Alberto Moggi, Pupi Alberto, Sorbi Sandro, Nacmias Benedetta
Abstract excerpt
A new risk gene associated with amyotrophic lateral sclerosis (ALS) has recently been identified: the Tank-binding kinase 1 (TBK1) gene. Up to now, 90 TBK1 variants have been described in ALS patients with or without frontotemporal dementia (FTD), thus making TBK1 the third or fourth most frequent genetic cause of ALS and FTD. A point mutation analysis in a cohort of 69 Italian ALS patients was performed in order...
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