Article
Genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome: A Next Generation Sequencing study.
Parkinsonism & related disorders - 1 Mar 2021
Picillo Marina, Ginevrino Monia, Dati Giovanna, Scannapieco Sara, Vallelunga Annamaria, Siano Pietro, Volpe Giampiero, Ceravolo Roberto, Nicoletti Valentina, Cicero Edoardo, Nicoletti Alessandra, Zappia Mario, Peverelli Silvia, Silani Vincenzo, Pellecchia Maria Teresa, Valente Enza Maria, Barone Paolo
Abstract excerpt
OBJECTIVE: To perform the genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome. METHODS: A Next Generation Sequencing - based targeted sequencing of 32 genes associated to various neurodegenerative phenotypes, plus a screening for SNCA Copy Number Variations and C9orf72 repeat expansion, was applied in a cohort of 85 Italian patients presenting with parkinsonism and...
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