Raquel Real

The paper evaluates the NeuroBooster Array's accuracy in detecting GBA1 variants, finding it correctly identifies most carriers but has notable false positives and missed calls.

This study identifies pathogenic and intermediate repeat expansions in Parkinson's disease and parkinsonism across 11 ancestries, highlighting ATXN2's role in PD risk and ancestry-specific patterns.

The paper reports the structures of α-synuclein filaments from individuals with Parkinson's disease and dementia, revealing differences in dimerisation and twist reversal between pathogenic and non-pathogenic variants.

CNV-Finder uses deep learning to detect copy number variations from array data, improving accuracy and reducing manual workload for downstream analyses.

This study conducts a GWAS on Pick's disease and identifies two SNPs associated with risk, though not at genome-wide significance, suggesting potential genetic factors beyond MAPT mutations.

The paper uses longitudinal proteomic data to identify molecular subtypes of Parkinson's disease, revealing conserved modules and their associations with clinical phenotypes.

This study identifies genetic variants associated with Parkinson's disease in African and African admixed populations, highlighting differences from European and Asian populations.

This study identifies genetic variants associated with REM sleep behavior disorder in Parkinson's disease and explores genetic correlations with neuropsychiatric traits.

The paper investigates how the 17q21.31 locus influences Parkinson's disease through KANSL1 activity, showing haplotype-specific effects on key biological processes.

This study compares molecular and cellular signatures of Parkinson's disease and Parkinson's disease with dementia using single-nuclear transcriptomics, finding distinct gene expression patterns and biological pathways.

The paper reports genetic findings from a UK-wide study of early-onset and familial Parkinson's disease, identifying pathogenic variants in known PD genes and highlighting the need for further monogenic causes.

This study identifies six novel genetic loci associated with Parkinson's disease mortality and motor progression using genome-wide survival analysis.

This paper identifies three novel genetic variants associated with levodopa-induced dyskinesia in Parkinson's disease and confirms associations with ANKK1 and BDNF, while also finding gender, age at onset, and anxiety as risk factors.

This study identifies genetic variants associated with motor progression in Parkinson's disease using GWAS and functional analysis.

The paper describes a virtual hackathon event that brought together early career scientists to develop tools for Parkinson's disease research using open science principles.

The paper examines how a polygenic Parkinson's disease genetic risk score modifies the risk of parkinsonism in Gaucher disease patients.

This study identifies APOE-ε4 and LRP1B as genetic risk factors for Parkinson's disease dementia using genome-wide survival analysis in 3,964 PD cases.