GBA1 deficiency differentially affects endolysosomal trafficking in neurons and astrocytes
Objective: To characterize how GBA1 deficiency alters endolysosomal trafficking in astrocytes versus neurons. Background: Mutations in the gene glucosidase, beta acid 1 (GBA1) not only increase risk…PD GENEration: a genetic analysis beyond the classical 7 Parkinson’s disease genes
Objective: To expand the analysis of whole-exome sequencing (WES) data from patients with Parkinson’s Disease (PD) from the PD GENEration cohort. We looked for variants…Assessing Genome-wide Genetic Risk for Parkinson’s Disease in European Sub-Populations Across the Global Parkinson’s Genetics Program and National Biobanks
Objective: To assess genome-wide genetic risk for Parkinson’s disease (PD) within and across genetically determined European ancestries (European, Ashkenazi Jewish, and Finnish) from the Global…Genetic Analysis of Mendelian mutations in A Large Chinese Early-onset and Familial Parkinson’s Disease
Objective: This study aims to determine the mutation spectrum of Mendelian Parkinson’s disease (PD) genes and clinical features of mutation carriers within a cohort of early-onset…GBA Mutation Profile in Parkinson’s Disease: Insights from a Movement Disorders Center in Brazil
Objective: To identify the prevalence of pathogenic variants of the GBA1 mutation among patients with parkinsonism who have undergone genetic testing. Background: GBA gene encodes…Neural oscillatory dynamics in Parkinson disease and dystonia: Insights from EEG analysis
Objective: Changes in total power and entropy across raw data may enable the identification of comprehensive shifts in neural dynamics that may align with clinical…Vestibulo-ocular reflex and cognitive dysfunction in denovo Parkinson’s disease
Objective: To investigate the relationship between cognitive function and vestibulo-ocular reflex (VOR) gain in denovo Parkinson’s disease (PD). Background: Saccades are rapid eye movements necessary…Determining Cerebrospinal Fluid Alpha-Synuclein Seed Amplification Assay Status from Demographics and Clinical Data
Objective: To develop models that determine likeliness of positive detection of pathologic alpha-synuclein (asyn) in cerebrospinal fluid (CSF) as measured by seed amplification assay (SAA)…Pregnancy and delivery in women with Parkinson’s disease: A case series
Objective: To explore pregnancy, delivery, birth outcomes and disease course throughout pregnancy in women with Early Onset Parkinson’s disease (EOPD) who underwent pregnancy after onset…Proposed framework to evaluate the ability of digital measures to track early stage Parkinson’s disease progression
Objective: To introduce a technical framework for evaluating digital measures for their ability to track Parkinson’s disease (PD) progression and apply the framework to digital…
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