LRRK2 and GBA Founder Mutations and their Interactions in Parkinson’s Disease
Objective: To evaluate the symptoms of Parkinson’s disease (PD) and time to diagnosis in single and dual carriers of LRRK2 G2019S and GBA N370S. Background:…Association of Gaucher-related and Parkinson’s-private GBA1 variants with progression of PD: A longitudinal mixed model analysis.
Objective: To compare progression of motor- and non-motor symptoms in people with Parkinson’s disease (PD) with Gaucher-related gene glucocerebrosidase (GBA1) variants compared to people with…MDSGene Update and Expansion: Clinical and Genetic Spectrum of LRRK2 Variants in Parkinson´s Disease
Objective: To provide a comprehensive and systematic overview of published data on carriers of pathogenic variants in the LRRK2 gene, including demographic, clinical, and genetic…Predictive Value of Brain Structural Changes on Motor Outcomes Following VIM Thalamotomy in Essential Tremor: Preliminary Results
Objective: To identify structural MRI factors that correlate with variations in motor outcomes for essential tremor (ET) patients after Gamma Knife thalamotomy (GKT). Background: Stereotactic…The Genetic Landscape of Parkinson’s Disease in an Italian Cohort and the Need for a Standardized Approach
Objective: Our study aimed to identify the genetic determinants and their prevalence in an Italian cohort of Parkinson’s disease (PD) patients. Background: Advances in genetics…Implications of BSCL2 Mutation in the Pathogenesis of Parkinson’s Disease
Objective: To report a case of a probable association between a mutation in the BSCL2 gene (Berardinelli-Seip Congenital Lipodystrophy 2) and Parkinson's disease (PD). Background:…Utility of using long-read whole genome sequencing to solve exome negative early-onset and familial Parkinson’s disease: a series of 106 individuals
Objective: (i) To identify complex variants usually not visible by short-read whole exome sequencing in known genes of Parkinson’s disease (PD) such as structural variants…Transcriptome analysis of proteasome and inflammation in the substantia nigra of Parkinson’s disease patients: the GEO database.
Objective: In this study, we analyzed transcriptome data regarding protein degradation pathways and inflammation sourced from GEO database. Background: Parkinson's disease (PD) is the second…Deep brain stimulation of bilateral ventral intermediate nucleus in patients with neuronal intranuclear inclusion disease
Objective: To evaluate the effect and the side effects of deep brain stimulation on the tremor of a patient with neuronal intranuclear inclusion disease (NIID).…Strategic Training Framework for Advancing Research Capacity through GP2
Objective: To promote and facilitate learning by providing resources and expertise to address the training needs of the Global Parkinson’s Genetics Program (GP2; www.gp2.org) and…
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