Diagnosing Young-Onset and Familial Parkinson’s Disease Using an Extensive Targeted Panel
Objective: To explore the diagnostic yield of a large PD-targeted panel that contains 85 genes in a Taiwanese cohort of young-onset and familial PD. Background:…Understanding Parkinson’s disease in Spain: genetic and clinical insights
Objective: The aim of this study was to investigate genetic variants associated with Parkinson's disease (PD) in a cohort of PD patients from southern Spain…Novel ASO Targeting IGHMBP2 Cryptic Splice Variant: Efficacy and Safety
Objective: Our objective was to target a specific cryptic splice site variant affecting immunoglobulin mu‐binding protein 2 (IGHMBP2) protein levels with a novel antisense oligonucleotide…Neurodegeneration with brain iron accumulation in pediatric population: Clinico-radiologic and genetic features
Objective: To correlate, clinical and magnetic resonance imaging (MRI) characteristics with genetics, of pediatric patients with Neurodegeneration with brain iron accumulation (NBIA). Background: NBIA is…Spastic Ataxia and Motorneuron disease as possible manifestations of ATP13A2 (PARK 9) variants
Objective: To describe 5 late-onset sporadic cases carrying either biallelic or monoallelic variants in ATP13A2, showing either spastic ataxia(Spatax) or primary lateral sclerosis (PLS) as…Fatigue in PD is related to decreased efficiency of the frontal network
Objective: We aimed to explore whether electroencephalography (EEG) could measure fatigue objectively and the pathophysiology of fatigue in PD. Background: Fatigue is a common, frustrating…Non-invasive transcranial Eectrical Stimulation (tRNS and tACS) targeting the Pallidum in normal Controls and PD Patients by rotating electrical Fields
Objective: To identify if low intensity transcranial electric stimulation targeting the pallidum influences motor cortex excitability. Background: Low intensity electrical stimulation has been shown to…Phenotypic characterization of an ATP13A2 knockout rat model of Parkinson’s disease
Objective: This project aimed to characterize the first-ever transgenic ATP13A2 knockout rat model to elucidate the underlying mechanisms of ATP13A2-associated pathology. Background: Most Parkinson’s disease…Association Between Glycated Hemoglobin (HbA1c) Levels And Motor Symptoms In Indian Subjects With Parkinson’s Disease: A Cross Sectional Observational Study
Objective: India is known for its diversity and genetic heterogeneity and our research seeks to fill the current gap in understanding how glycated hemoglobin (HbA1c)…Effects of Sample Collection Methods on Skin Sebum Volatilome Composition in Parkinson’s Disease Patients – a Methodological Pilot Study
Objective: To assess replicability of skin sebum volatile organic compound (VOC) composition 1) within the same subjects; 2) in frozen vs fresh samples, and 3)…
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