Case Study: Pitfalls of Commercial Genetic Testing for Huntington’s Disease
Objective: We present a family with initial false negative commercial testing for Huntington Disease (HD) and subsequent whole genome sequencing (WGS) that revealed an expanded…Hearing impairment and non-motor symptoms in Parkinson’s disease: association and impact on quality of life
Objective: The aim of the study was to investigate the possible correlation between non-motor symptoms (NMS) burden and quality of life (QoL) with hearing impairment…Ethical considerations in person-centered Parkinson’s disease care: a cross-national comparison of patients’ perspectives
Objective: To identify which ethical requirements are placed by people with Parkinson’s disease (PwPDs) and their care partners on person-centered care. Background: To improve the…Characterizing the neural response to electrical brain stimulation with spatiotemporal precision in mice.
Objective: An approach to characterize the neural response to electrical brain stimulation with spatiotemporal precision in mice. Background: Electrical brain stimulation is a clinically accessible…Does Cognitive Complaint in Parkinson’s Disease Reflect in Neuropsychological Testing?
Objective: To investigate whether the neuropsychological tests differ among participants with Parkinson’s disease (PD) presenting with the subjective cognitive complaint (PD-SCC) and PD with normal…Myoclonus Phenomenology and its Response to Antiepileptic drugs in Patients with Sub acute Sclerosing Pan encephalitis
Objective: To assess myoclonus phenomenology and its response to antiepileptic drugs in patients with SSPE. Background: Myoclonus is one of the characteristic features of Sub…Correlation between neurological phenotype, neuroimaging and clinical outcome in a single centre Wilson disease cohort.
Objective: Correlate brain MRI features with the clinical phenotype and outcomes in chronically treated Wilson Disease (WD). Background: Neurological WD is characterised by a variety…Machine learning reveals candidate genes from Parkinson’s disease associated loci
Objective: To prioritize candidate genes from Parkinson's disease (PD) genome-wide association studies (GWAS) for future functional studies. According to PubMed, most of the field still…Preliminary evidence for evolution of myoinositol and N-acteylaspartate as biomarkers of disease severity in early-stage multiple system atrophy
Objective: To quantify the longitudinal evolution of metabolic indicators of gliosis and neuronal integrity in patients with multiple system atrophy (MSA) over one year. Background:…Spinal cord stimulation for gait in Parkinsons disease in subthreshold settings
Objective: To assess optimal parameters for tonic spinal cord stimulation (SCS) for Parkinson’s Disease (PD) gait disorders in blinded settings. Background: SCS is a promising…
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