FXTAS-like Phenotype with p.P626L Missense Mutation: A case report
Objective: To describe p.P626L missense mutation of FMR1 gene in a patient with clinical phenotype of Fragile X Associated Tremor and Ataxia Syndrome (FXTAS). Background:…A promising model for cognitive dysfunction in Parkinson’s Disease by AAV-mediated alpha-synuclein overexpression in hippocampus
Objective: Our aim is to model cognitive dysfunction of Parkinson's disease (PD) together with motor deficits by targeted overexpression of alpha-synuclein (a-syn) in bilateral dentate…PLA2G6-related juvenile-onset Parkinsonism: clinical features and cognitive profile in a cohort of Chinese patients
Objective: Among young or juvenile onset Parkinson (PD) patients, we assessed cognitive and clinical performances, comparing homozygotes and compound heterozygotes who carry PLA2G6 pathogenic mutations…Lysosphingolipids accumulation in macrophage model of Gaucher disease
Objective: The aim of this study was to investigate if GCase deficiency in macrophage model of GD lead to lysosphingolipids accumulation. Background: Mutations in the…PTRHD1 loss-of-function mutation in an African family with parkinsonism and intellectual disability
Objective: To investigate the clinical features and identify the disease-causing gene in a black South African family affected by juvenile-onset parkinsonism and intellectual disability. Background:…STN DBS modulates cortical auditory processing in advanced Parkinson’s Disease; a MEG-study
Objective: To find out how deep brain stimulation (DBS) impacts cortical auditory processing in advanced Parkinson's disease (PD) patients. Background: Motor symptoms of PD can…The use of DaT scan for diagnosis of Idiopathic Parkinson’s disease and Parkinson’s Plus syndromes in clinical practice (HEFT experience)
Objective: To assess the clear indication for which DaT scan was requested, its specificity and sensitivity and factors that might be considered for future clinical…Brain network activation (BNA): A new biomarker for Parkinson’s disease?
Objective: We aimed to assess the ability of the Brain Network Activation (BNA) EEG analysis algorithm to differentiate between early-stage Parkinson’s disease (PD) patients and…Gender Differences in Parkinson’s disease: Transcranial Magnetics Stimulation Study of Newly Diagnosed Drug-Naïve PD Patients
Objective: In early Parkinson’s disease (PD), functional changes may be detected in primary motor cortex (M1) using transcranial magnetic stimulation (TMS). We hypothesised that, if…Clinical subtypes of Parkinson’s disease based on nonmotor symptoms: A cluster analysis
Objective: To classify patients with early Parkinson's disease based on nonmotor symptoms using a data-driven approach. Background: Heterogeneity of Parkinson’s disease provides the basis for…
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