Distinct patterns of Gene Expression in Skin-biopsy Derived Fibroblasts of Patients with Parkinson’s disease
Objective: In this study, we aimed to investigate global gene expression alterations in cultured skin fibroblasts from individuals with idiopathic Parkinson’s disease (PD) compared to…Studying monogenic Parkinson’s disease by building a global cohort of mutation carriers
Objective: ObjectiveTo build a multi-ancestry cohort of individuals with pathogenic variants in genes known to cause Parkinson’s disease (PD) to study monogenic PD at a…RAB32 variant p.Ser71Arg in the ROstock PArkinson’s Disease Study (ROPAD)
Objective: To identify and characterize PD patients with RAB32 variant p.Ser71Arg in the ROstock PArkinson’s Disease Study (ROPAD; ClinicalTrials.gov NCT03866603). Background: A recent preprint provided…Screening for newly PD-associated RAB32 p.S71R variant in Latin America
Objective: Our aim was to identify whether a novel putative pathogenic variant in RAB32, a gene recently associated with familial forms of Parkinson’s Disease (PD),…DPPX Autoimmune Encephalitis Associated with Severe Multifocal Dystonia.
Objective: To describe a novel motor phenomenology in an individual diagnosed with anti-DPPX encephalitis at our institution and to compare it with previously known phenotypic…Therapeutic challenges of long-standing chelator therapy in Wilson’s Disease
Objective: To determine the frequency of side effects of long-term copper chelation therapy in Wilson’s disease (WD). Background: WD is a neurometabolic autosomal recessive disorder…Movement-Related Potentials Recorded Using Cerebellar Deep Brain Stimulation Leads
Objective: Investigate cerebellar local field potentials (LFPs) associated with movement using DBS leads in patients with spinocerebellar ataxia. Background: The Bereitschaftspotential (BP) detectable via EEG…Altered levels of interleukin-6 in Parkinson’s disease patients with and without Covid-19
Objective: Comparison of serum IL-6 levels in Parkinson's disease (PD) patients with and without Сovid-19. Background: Scientists say that the infectious agent SARS-CoV-2 increases the…Case Studies of Real-World Brain Sensing Showing Patient-Specific Trends to Inform Therapy Management in Parkinson’s Disease
Objective: Explore the utility of chronic brain sensing in identifying patient-specific trends that could be useful to tailor deep brain stimulation (DBS) in Parkinson’s disease…Exploring the Therapeutic Potential of Microglial Modulation in Parkinson’s Disease: A Study on Structural Synaptic Plasticity
Objective: We aim to explore the role of glial cells in Parkinson's disease and assess whether modulating microgliafunction could offer therapeutic benefits. Specifically, we investigate…
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