Pronounced Cervical Dystonia in Ataxia with Vitamin E Deficiency
Objective: Objective: To describe a case report of an atypical phenotype of ataxia with vitamin E deficiency (AVED) and marked cervical dystonia. Background: Background: AVED…Atypical parkinsonism syndromes: clinical presentations
Objective: Here, our aim was to identify the characteristics of atypical clinical presentations of atypical parkinsonism syndromes in our cohort and our secondary aim was…Validity and responsiveness of the EQ-5D-3L in Friedreich-Ataxia
Objective: The objective was to validate the well-established EQ-5D in Friedreich’s ataxia (FA). Background: Health-related quality of life (HRQoL) is increasingly researched in FA. The…Detecting clinical fluctuations in chronic biomarker recordings: experiences with chronic subthalamic peak beta band recordings in a large Parkinson’s disease patient cohort
Objective: Since the understanding of electrophysiological biomarker dynamics during every-day activities is crucial for adaptive deep brain stimulation (aDBS), this study aims to investigate characteristics…gender differences of fatigue and sleep characteristics in parkinson’s disease patients
Objective: to study the gender differences in fatigue and sleep characteristics in a cohort of Parkinson’s disease (PD) patients Background: Fatigue is a common problem…LRRK2 PROTAC® degrader molecules induce robust biomarker responses in preclinical in vivo pharmacology studies following acute and chronic oral dosing
Objective: Report on the non-clinical in vivo pharmacokinetic and pharmacodynamic biomarker response to PROteolysis TArgeting Chimera (PROTAC®) molecules designed to induce degradation of leucine rich…Tai Chi training of people with Parkinson’s disease (PD) – neuropsychological and electrophysiological analyses
Objective: To analyze the influence of Tai Chi training on neurological changes, neuropsychology, quality of life (QoL) and EEG in PD patients. Background: Besides pharmacological…A human tissue engineered nigrostriatal system as a testbed for understanding PD pathophysiology and therapeutic development
Objective: The objective of these studies is to develop a tissue engineered nigrostriatal system involving human dopaminergic and striatal cells to recapitulate many of the…RNA editing contributes to the inflammatory astrocytic response in Parkinson’s disease.
Objective: 1) Using an IPSC derived cell model to explore astrocytic responses alone and cocultured neurons to alpha-synuclein oligomer (αsynO) treatment.2) Determine the extent to…Combined GWAS of Dementia with Lewy Bodies, REM-Sleep Behavior Disorder, Parkinson’s Disease and Alzheimer’s Disease
Objective: To identify genetic variants that are either shared between or specific for Dementia with Lewy Bodies (DLB), REM Behavior Disorder (RBD), Parkinson’s disease (PD)…
