Rare Neurodegenerative Phenotypes in Patients Carrying Homozygous GBA1 Mutations
Objective: To describe patients with Type 1 Gaucher disease who developed a rare neurodegenerative disease other than synucleinopathies. Background: Lysosomal dysfunction as a contributor to…Nanopore single-molecule sequencing to investigate mitochondrial DNA CpG methylation in Parkinson’s disease
Objective: Nanopore whole-genome sequencing of native DNA to investigate mitochondrial DNA (mtDNA) CpG methylation from patients with Parkinson’s disease (PD) and healthy controls. Background: PD…Increased stroke risk in Parkinson’s disease patients with LRRK2 mutations
Objective: To determine whether genetic forms of Parkinson’s Disease (PD), such as LRRK2-mutated PD (LRRK2-PD) and GBA-mutated PD (GBA-PD), have a different vascular risk compared…Familial Parkinson’s disease (PD) with anticipation phenomenon. Undescribed variant in the LRRK2 gene (c.4001G> A (p.Arg1334Gln))
Objective: We describe a family with 4 members affected by PD, carrying a new variant of the LRRK2 gen, with anticipation phenomenon in succeding generation.…East Asian Parkinson’s Disease Genomics Consortium – An introduction
Objective: To further understand the genetic architecture of Parkinson’s disease (PD) in East Asian and to establish a consortium that collaborates on genetic studies in…HYPERSEXUAL DISORDER IN GBA-ASSOCIATED PARKINSON’S DISEASE: CASE REPORT
Objective: To describe a patient with PD and hypersexual disorder carrying a GBA variant. Background: Compulsive sexual behavior occurs in 4% of patients with Parkinson’s…Glucocerebrosidase activity does not predict Parkinson’s Disease risk or severity
Objective: To explore the association between GCase activity, PD phenotype and probability for prodromal PD among PD and non-manifesting carriers (NMC) of mutations in the…Investigating LRRK2 and GBA genetic variability in underrepresented populations
Objective: To address the pressing need through promoting collaborative translational work evaluating genetic signatures in Latinx and African-American (AA) participants with and without Parkinson’s disease…Blood-based circulating microRNAs for discriminating between Parkinson’s disease subtypes
Objective: The aim of this study was to establish candidate blood miRNAs biomarkers for PD by comparing differences in miRNAs expression between distinct PD subtypes. Background: Blood…Clinical and genetic analysis of psychosis in Parkinson’s disease
Objective: This study aimed to examine the association of seven selected polymorphisms of DRD2, ANKK1, COMT and DAT genes with Parkinson’s disease psychosis (PDP) onset.…
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