GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.

doi:10.1002/mds.28195

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Article

GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.

Movement disorders : official journal of the Movement Disorder Society - 1 Nov 2020

Petrucci Simona, Ginevrino Monia, Trezzi Ilaria, Monfrini Edoardo, Ricciardi Lucia, Albanese Alberto, Avenali Micol, Barone Paolo, Bentivoglio Anna Rita, Bonifati Vincenzo, Bove Francesco, Bonanni Laura, Brusa Livia, Cereda Cristina, Cossu Giovanni, Criscuolo Chiara, Dati Giovanna, De Rosa Anna, Eleopra Roberto, Fabbrini Giovanni, Fadda Laura, Garbellini Manuela, Minafra Brigida, Onofrj Marco, Pacchetti Claudio, Palmieri Ilaria, Pellecchia Maria Teresa, Petracca Martina, Picillo Marina, Pisani Antonio, Vallelunga Annamaria, Zangaglia Roberta, Di Fonzo Alessio, Morgante Francesca, Valente Enza Maria

Abstract excerpt

BACKGROUND: Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD). The impact of different variants on the PD clinical spectrum is still unclear. OBJECTIVES: We determined the frequency of GBA-related PD in Italy and correlated GBA variants with motor and nonmotor features and their occurrence over time. METHODS: Sanger sequencing of the whole GBA gene was performed. Variants were...

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PMID: 32658388
DOI: 10.1002/mds.28195

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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