Interrogating Parkinson’s disease associated mutations at single cell resolution
Objective: To uncover potentially causative Parkinson’s disease (PD) somatic mutations in post-mortem substantia nigra pars compacta (SNpc) tissues from sporadic PD patients using single cell…Utility of the long-read single-molecule nanopore sequencing for detection of repeat number and epigenetic modifications relevant for X-linked dystonia-parkinsonism
Objective: To investigate the utility of long-read single-molecule nanopore sequencing for simultaneous detection of repeat number and methylation of the SINE-VNTR-Alu (SVA) retrotransposon in the…Parkinsonism in individuals with genetic neurodevelopmental disorders: A systematic review
Objective: It is increasingly recognized that individuals with genetic neurodevelopmental disorders (GNDs) such as 22q11.2 deletion syndrome can suffer from parkinsonism. We aim to provide…Lysosomal storage disorder genes variants in Parkinson’s disease: a large cohort study in Chinese mainland population
Objective: In this study, we investigated the association between rare variants in lysosomal storage disorders (LSDs) genes and Parkinson’s disease in large Chinese mainland cohorts.…Impaired glucocerebrosidase transport to lysosomes in cultured macrophages derived from blood monocytic cells of patients with Parkinson’s disease associated with mutations in the GBA gene
Objective: To study the glucocerebrosidase (GCase) activity and translocation to lysosomes in cultured macrophages derived from patient blood monocytic cells (PBMC) of Parkinson's disease patients…α-synuclein and deficits of membrane trafficking in Parkinson’s Disease
Objective: Aim of the study is to understand the physical and functional relationships between the PD-associated protein α-synuclein and some of the Soluble N-ethylmaleimide-sensitive-factor Attachment…Perivascular spaces in the basal ganglia and long-term motor prognosis in newly diagnosed Parkinson’s disease
Objective: To investigate the association between enlarged perivascular spaces (PVSs) in the basal ganglia (BG-PVSs) and long-term motor outcomes in Parkinson’s disease (PD). Background: PVSs…Movement-related dynamics of β-γ phase-amplitude coupling in repetitive movement tasks of Parkinson disease
Objective: In this study, we aim to understand the functional role of β-γ phase amplitude coupling (PAC) during repetitive movement tasks and its relationship with…Clinical correlates of Parkinson’s disease metabolic pattern: not only a diagnostic tool
Objective: To define and cross-validate the glucose metabolism abnormalities related to Parkinson's Disease (PD), and to analyze pattern relationship with clinical phenotype Background: In PD,…Brain activity of the emotional circuit in Parkinson’s disease patients with freezing of gait
Objective: The aim of this observational study was to assess brain functional MRI (fMRI) activity during a “FoG observation task” in PD-FoG patients relative to…
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