Lysosomal network defects in parkinsonian patients carrying rare variants in lysosomal hydrolytic enzyme genes
Objective: Functional validation of rare variants of lysosomal genes potentially associated with early onset Parkinson's disease (EOPD) Background: The genetic load in EOPD is high;…Increased alpha-internexin levels are associated with a higher risk of Parkinson’s disease
Objective: This study aims to evaluate the causal relationship between plasma alpha-internexin levels and the risk of Parkinson’s disease (PD). Background: Alpha-internexin, implicated in neuronal…Contribution of Genetics to Onset of PD with Leg Tremor
Objective: To determine frequency and determinants of resting tremor in the leg as first motor symptom in Parkinson Disease (PD), especially as related to age…Genetic determinants of the progression of Lewy body pathology
Objective: To identify genetic risk factors associated with the distribution of Lewy body (LB) and Alzheimer’s disease (AD) co-pathology in the Lewy body disease (LBD)…Rare Variant Association Analysis in Kazakhstani Parkinson’s Disease Population: Preliminary Results from GP2 CAT-PD Study
Objective: To identify rare genetic variants in genes, previously associated with Parkinson’s disease (PD) within a population consisting of individuals with PD and unaffected controls…Juvenile DBP Deficiency – Case series
Objective: To report clinical phenotypes of 2 siblings with symptoms of Juvenile-onset D-bifunctional protein (DBP) deficiency. Background: HSD17B4 gene codes for DBP, a peroxisomal protein with…Mutation of the ATP5F1A gene associated with dystonia, spasticity, myoclonus, cognitive impairment and epilepsy – a rare case report of a patient
Objective: We present a patient with generalized dystonia with spasticity, craniofacial dysmorphism and myoclonus on the left upper limb due to mutation of the ATP5F1A…Miniscope-based neural circuit profiling in freely behaving animals for preclinical therapeutic assessment
Objective: To advance translational research by revealing detailed relationships between neural circuit activity and behavioural symptoms in preclinical models Background: Conventional preclinical tests for CNS…Neural oscillatory dynamics in Parkinson disease and dystonia: Insights from EEG analysis
Objective: Changes in total power and entropy across raw data may enable the identification of comprehensive shifts in neural dynamics that may align with clinical…Monopolar sensing improves the efficiency of DBS programming in Parkinson’s disease
Objective: Compare the clinical outcomes of optimal settings between in-clinic monopolar sensing (MS) and standard of care monopolar review (MR) for deep brain stimulation in…
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