WES analysis of Parkinson’s disease patients with Cancer
Objective: To provide evidences for the overlapping mechanistic basis between Parkinson's disease (PD) and cancer(CA), we explored the common genomic mechanisms between the two disease.…Rapidly onset progressive generalised dystonia parkinsonism in a young Indian male with rare FBXO 7 genetic mutation
Objective: To describe a rare case of rapidly progressive generalized dystonia parkinsonism due to FBXO7 gene mutation. Background: Parkinson’s disease is a neurodegenerative disorder of…Cerebrotendinous Xanthomatosis presenting Parkinsonism with bilateral iron accumulation in the basal ganglia
Objective: Cerebrontendinous xanthomatosis(CTX) is a treatable, autosomal recessive, lipid storage disorder disease. Herein, we present a case of CTX. It aims to refresh and improve…A detailed delineation of the clinical phenotype, natural history and quality of life in patients with North Sea Progressive Myoclonus Epilepsy
Objective: To report for the first time on a detailed description of the phenotype, natural history and quality of life (QoL) in a relatively large…Restoring AADC enzyme synthesis in AADC deficiency: MRI-Guided Delivery of AAV2-hAADC Gene Therapy to the Midbrain
Objective: Evaluate the safety and efficacy of real-time MR-guided delivery of adeno-associated virus serotype 2 (AAV2)-hAADC delivery to the SNc and VTA for the treatment…A Case of Diurnally Variable Gut Discomfort in a Patient with RLS
Objective: To report the case of a man with restless legs syndrome (RLS) manifesting as predominantly gastrointestinal discomfort. Background: RLS is an unpleasant urge to…Distribution Characteristics of Limbs Discomfort in Restless Legs Syndrome
Objective: To compare the clinical features of RLS patients with asymmetric distribution of discomfort and symmetry distribution, and provide new ideas for the diagnosis and…Daytime sleepiness in Parkinson’s disease: an indicator of impaired activities of daily living
Objective: To determine the association between excessive daytime sleepiness (EDS) and activities of daily living (ADL) in Parkinson’s disease (PD) patients. Background: EDS is a…The Preferences of Patients with Parkinson’s Disease and their Family Members for Place of End-of-Life Care
Objective: The aim of the research was to determine the preferences of patients with Parkinson´s disease (PD) and their family members for the place of…Stigma and Quality of life in Parkinson’s disease patients on different treatment regimens
Objective: To assess self reported quality of life (QOL) in patients with Parkinson’s disease (PD) under different treatment options and to evaluate the emotional burden…
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