Article
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2023
Di Fonzo Alessio, Percetti Marco, Monfrini Edoardo, Palmieri Ilaria, Albanese Alberto, Avenali Micol, Bartoletti-Stella Anna, Blandini Fabio, Brescia Gloria, Calandra-Buonaura Giovanna, Campopiano Rosa, Capellari Sabina, Colangelo Isabel, Comi Giacomo Pietro, Cuconato Giada, Ferese Rosangela, Galandra Caterina, Gambardella Stefano, Garavaglia Barbara, Gaudio Andrea, Giardina Emiliano, Invernizzi Federica, Mandich Paola, Mineri Rossana, Panteghini Celeste, Reale Chiara, Trevisan Lucia, Zampatti Stefania, Cortelli Pietro, Valente Enza Maria
Abstract excerpt
BACKGROUND AND OBJECTIVE: Early-onset Parkinson's disease (EOPD) commonly recognizes a genetic basis; thus, patients with EOPD are often addressed to diagnostic testing based on next-generation sequencing (NGS) of PD-associated multigene panels. However, NGS interpretation can be challenging in a diagnostic setting, and few studies have addressed this issue so far. METHODS: We retrospectively collected data from...
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