Identification of Rare Genetic Variants In Italian Patients With Dementia By Targeted Gene Sequencing

In this study, we conducted targeted sequencing in 246 clinically heterogeneous patients, mainly with early-onset and/or familial neurodegenerative dementia, using a custom-designed Next Generation Sequencing (NGS) panel covering 27 genes known to harbor mutations that can cause different types of dementia, in addition to the detection of C9orf72 repeat expansions.

Source: Neurobiology of Aging - February 12, 2018 Category: Neuroscience Authors: Anna Bartoletti-Stella, Simone Baiardi, Michelangelo Stanzani-Maserati, Silvia Piras, Paolo Caffarra, Alberto Raggi, Roberta Pantieri, Sara Baldassari, Leonardo Caporali, Samir Abu-Rumeileh, Simona Linarello, Rocco Liguori, Piero Parchi, Sabina Capellari Source Type: research