Article
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Journal of neurology - 1 Jan 2022
Vecchia Stefania Della, Tessa Alessandra, Dosi Claudia, Baldacci Jacopo, Pasquariello Rosa, Antenora Antonella, Astrea Guja, Bassi Maria Teresa, Battini Roberta, Casali Carlo, Cioffi Ettore, Conti Greta, De Michele Giovanna, Ferrari Anna Rita, Filla Alessandro, Fiorillo Chiara, Fusco Carlo, Gallone Salvatore, Germiniasi Chiara, Guerrini Renzo, Haggiag Shalom, Lopergolo Diego, Martinuzzi Andrea, Melani Federico, Mignarri Andrea, Panzeri Elena, Pini Antonella, Pinto Anna Maria, Pochiero Francesca, Primiano Guido, Procopio Elena, Renieri Alessandra, Romaniello Romina, Sancricca Cristina, Servidei Serenella, Spagnoli Carlotta, Ticci Chiara, Rubegni Anna, Santorelli Filippo Maria
Abstract excerpt
BACKGROUND: Monoallelic variants in the KIF1A gene are associated with a large set of clinical phenotypes including neurodevelopmental and neurodegenerative disorders, underpinned by a broad spectrum of central and peripheral nervous system involvement. METHODS: In a multicenter study conducted in patients presenting spastic gait or complex neurodevelopmental disorders, we analyzed the clinical, genetic and...
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