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…Bilateral Putaminal AAV2-GDNF Delivery the Treatment of Advanced Parkinson’s Disease
Objective: To investigate the safety, tolerability, and early clinical efficacy of escalating doses of AAV2-GDNF delivered into the bilateral putamen of patients with advanced PD…Relationship between restless legs syndrome and various factors in pregnancy
Objective: The aim of this study was to examine the correlation between previous pregnancies and gestational age with the occurrence of RLS in pregnant women…Automatic quantification of micro-sleep stability in isolated REM sleep behavior disorder and Parkinson’s disease
Objective: To investigate micro-sleep stability in patients with Parkinson’s disease (PD) with REM sleep behavior disorder (PD+RBD), PD patients without RBD (PDnoRBD), patients with isolated…Dyadic analysis of the Parkinson’s disease impact on the patient-spouse couple
Objective: The present research aims to understand the dyadic functioning of couples faced with Parkinson’s disease (PD) considering disease progression. Background: PD has detrimental effects…
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