Article
Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.
Scientific reports - 18 Mar 2021
Sassi Celeste, Capozzo Rosa, Hammer Monia, Zecca Chiara, Federoff Monica, Blauwendraat Cornelis, Bernstein Nick, Ding Jinhui, Gibbs J Raphael, Price Timothy, Singleton Andrew, Logroscino Giancarlo
Abstract excerpt
Frontotemporal dementia (FTD) refers to a complex spectrum of clinically and genetically heterogeneous disorders. Although fully penetrant mutations in several genes have been identified and can explain the pathogenic mechanisms underlying a great portion of the Mendelian forms of the disease, still a significant number of families and sporadic cases remains genetically unsolved. We performed whole exome...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.