Article
Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.
Neurobiology of aging - 1 Jun 2018
Bartoletti-Stella Anna, Baiardi Simone, Stanzani-Maserati Michelangelo, Piras Silvia, Caffarra Paolo, Raggi Alberto, Pantieri Roberta, Baldassari Sara, Caporali Leonardo, Abu-Rumeileh Samir, Linarello Simona, Liguori Rocco, Parchi Piero, Capellari Sabina
Abstract excerpt
Genetics is intricately involved in the etiology of neurodegenerative dementias. The incidence of monogenic dementia among all neurodegenerative forms is unknown due to the lack of systematic studies and of patient/clinician access to extensive diagnostic procedures. In this study, we conducted targeted sequencing in 246 clinically heterogeneous patients, mainly with early-onset and/or familial neurodegenerative...
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