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Article

Severe<i>GBA1</i>variants drive the GBA-PD clinical phenotype: implications for counselling and clinical trials

2024-12-11

Abstract excerpt

<h4>Background</h4> Variants in the GBA1 gene are the commonest genetic risk factor for Parkinson disease (PD). Genotype- phenotype correlations exist but with conflicting data, particularly in the cognitive domain. <h4>Objectives</h4> Comparing clinical phenotypes in a multicentre, international cohort incorporating GBA-PD and idiopathic PD (iPD) patients. <h4>Methods</h4> Patients underwent a comprehensive asses...

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Literature Corpus work
78819452-b45b-58d0-9f48-df4d62c57683
DOI
10.1101/2024.12.09.24318560
Open publication

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Severe<i>GBA1</i>variants drive the GBA-PD clinical phenotype: implications for counselling and clinical trialsDOI 10.1101/2024.12.09.24318560
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