Gene rearrangement as the cause of hereditary Hypomyelinating Leukodyistrophy disease type 5 (HLD5)
Objective: To define the clinical, neurophysiological, neuroimaging and pathological findings from a patient carrying a FAM126A homozygous exon 3-7 deletion. Background: Hypomyelinating leukodystrophies constitute a…Racial and Ethnic Differences in Suicidal Ideation in North American patients with Huntington’s Disease: Analysis using the ENROLL-HD Dataset
Objective: To identify racial and ethnic differences in history of suicidal ideation among Huntington’s Disease patients, using the ENROLL-HD, 2020 periodic dataset. Background: Suicidal ideation…Assessing akinesia domains during multitasking in Parkinson’s disease
Objective: To explore performance differences in single- versus dual-tasking conditions between healthy controls (HC) and Parkinson's disease (PD) patients. Background: Akinesia, comprising slowness (bradykinesia), reduction…Case of neuroferritinopathy with isolated dystonic leg cramps and normal neuroimaging
Objective: To describe a case of genetically proven neuroferritinopathy with isolated dystonic leg cramps and normal neuro-imaging. Background: Neuroferritinopathy(NF) is an autosomal dominant condition characterized…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…A newly implemented NGS-based method to detect GBA1 variants in patients with Parkinson’s disease
Objective: We aim to implement a new cost-effective and reliable next-generation-sequencing-based technology to test GBA1 gene in Parkinson disease (PD) patients. Background: Heterozygous variants in the…Integrated analysis of phase 3 trials of foslevodopa/foscarbidopa demonstrated that majority of reported infusion site AEs including infections were non serious, mild to moderate in severity and did not result in treatment discontinuation.
Objective: To characterize reported infusion site infection adverse events (AEs) and their clinical management in patients with Parkinson’s disease (PD) treated with foslevodopa/foscarbidopa (LDP/CDP). Background:…Cortical gamma oscillations in Parkinson’s disease: ipsi- and contralateral deep brain stimulation-induced entrainment
Objective: To characterize deep brain stimulation (DBS) parameters for bilateral induction of cortical finely tuned gamma (FTG) via unilateral stimulation. Background: FTG oscillations are reported…Apathy, white-matter microstructure, and effort-based decision making in Parkinson’s Disease
Objective: To investigate the influence of reward and effort on behavior in PD patients with and without apathy, using a drift-diffusion model to analyze neuroimage…Modulation of autophagy and neuroinflammation by Niclosamide in MPTP Induced- Parkinson’s disease model
Objective: The current investigation aimed to investigate the neuroprotective effect of niclosamide (NI) on autophagy and neuroinflammatory pathways in Parkinson’s disease (PD). Background: Autophagy dysregulation…
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