The effect of ADORA2A gene polymorphism on the dyskinesia of Parkinson’s Disease
Objective: To investigate the relationship of levodopa-induced dyskinesia with ADORA2A gene polymorphisms in PD patients. Background: With the progression of the disease, motor complications and…Differential Gene Expression in Parkinson Disease and Chronic Traumatic Encephalopathy
Objective: The research would like to determine if similar overexpressed genes between CTE and PD may explain the occurrence of parkinsonism in CTE. This was…Methylation status of SNCA gene in patients with Parkinson disease in Russian population
Objective: To study methylation status of SNCA gene in patients with Parkinson disease in Russian population Background: The genetic background of Parkinson disease (PD) has…The Genetic Basis of paediatric movement disorders: experience from the SYNaPS Study
Objective: To identify genetic causes of paediatric movement disorders in a large multi-ethnic cohort of patients by genetic investigations. Background: Pediatric movement disorders which are…GBA and ATP13A mutation and PD: clinical phenotype, eye movements and pathogenic implications
Objective: To characterize a patient with GBAand ATP13A2gene mutations. Background: Mutations of GBA(Glucocerebrosidase) and ATP13A2(P5-ATPase) genes are risk factors for Parkinson’s disease (PD). Homozygous mutations…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…
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