The functional consequences of the ‘African GBA1 allele’ of rs3115534 in Parkinson’s Disease
Objective: To gain insights into the pathophysiology by which the G-allele of rs3115534 confers risk for PD. Background: A recent paper defined the G-allele of…RAB32 c.213C>G (p.Ser71Arg) explains Parkinson’s disease in two UK families: description of the clinical and biochemical features
Objective: To describe the clinical features, family structure of two families identified to have the recently described pathogenic variant RAB32 c.213C>G (p.Ser71Arg). Background: Genetic mutations…Utilizing a global network to study environmental factors relating to Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)
Objective: To identify and collect data on non-genetic variables from individuals with and without Parkinson’s disease (PD) in the Global Parkinson’s Genetics Program (GP2, http://gp2.org/).…Parkinson’s Disease Risk Genotypes at the GPNMB Locus Associate with Extent of Post-mortem Lewy Pathology
Objective: To determine whether Parkinson’s disease (PD) risk genotypes at the GPNMB locus associate with distribution of Lewy pathology in brain samples from a spectrum…5HTTLPR (44bp Ins/Del) polymorphism: Serotonergic subtype of Parkinson’s Disease
Objective: To find out the association of 5HTTLPR (44bp Ins/Del) polymorphism with PD neurotransmitter subtypes Background: Parkinson’s Disease (PD) can be sub divided into serotonergic,…A Case of Paradoxical Gait Response to Levodopa in Parkin-Gene-Related Early-Onset Parkinson’s Disease
Objective: We present a case with a paradoxical gait response to levodopa in Parkin gene-related early-onset Parkinson's Disease. Background: Parkin (PRKN) mutations are the predominant…Association between Hyperglycemic Crisis Severity and Movement Disorders in Hispanic Patients with De Novo Hyperglycemia: A Cross-Sectional Study
Objective: Exploring the correlation between hyperglycemic crisis (HC) severity and movement disorders (MD) in Hispanic patients with De Novo Hyperglycemia (DNH). Background: Limited research exists…A Unique case of Ataxia, Neuropathy, and chronic cough: CANVAS
Objective: We describe a unique case of a 68-year-old man with chronic ataxia, spasmodic cough, neuropathy and hearing loss who was initially felt to have…Real-Time Removal of Stimulus Artifact for Closed-Loop Deep Brain Stimulation by Synchronized Sample-And-Hold Artifact Blanking (SSAB): Verification in Animal Model
Objective: To develop and validate a real-time stimulus artifact removal analog front-end (AFE) by synchronized sample-and-hold artifact blanking (SSAB) technique with the Parkinsonian minipig model…Characteristics of tremor frequency oscillatory neurons in the basal ganglia and thalamus in Parkinson’s tremor
Objective: To characterize tremor frequency oscillatory neurons in the basal ganglia and thalamus in patients with Parkinson’s tremor. Background: Evidence that the basal ganglia and…
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