Engagement of the Black and African American Community in Parkinson’s Genetic Research
Objective: Increase racial diversity in Parkinson’s disease (PD) genetic research by engaging Black and African American people living with PD Background: Advancements in understanding the…Clinical and genetic characteristics of PLA2G6-parkinsonism in southwest of China and a review of heterogeneity of phenotype and genotype between Asian and Caucasian patients
Objective: Objective: To summarize clinical characteristics, imaging features and genetic data of PLA2G6 mutant patients in southwest of China, and to investigate the heterogeneity between Asian and…Clinical Features of dj1 Gene Mutation Causing Parkinson’s Disease from Single Institution
Objective: Describe a detailed clinical and genetic evaluation of patients with Parkinson's disease secondary to DJ1 gene mutation Background: Inherited Parkinson's disease (PD) represents 5-10%…Wilson’s Disease : A Senegalese Series of Seven Patients Followed at Pikine National Hospital Centre (Dakar-Senegal)
Objective: The aim of this study is to describe the epidemiological, diagnostic, therapeutic and evolutionary characteristics of Wilson's disease and to highlight the diagnostic and…Prevalence of immune-mediated diseases in long-term chelator therapy in Wilson’s Disease
Objective: To determine the prevalence of concurrent immune-mediated diseases during copper chelation therapy in Wilson’s disease (WD). Background: Wilson’s disease is a neurometabolic autosomal recessive…Adult-onset Niemann-Pick C in India: phenotype and genotype
Objective: This study was aimed to describe the clinical, radiological, and molecular profile of adults affected by NPC. Background: Adult-onset Niemann-Pick C (NPC) is a…Clinical, Neurophysiological, and Biological Insights into Levodopa-Induced Dyskinesias
Objective: The aim of this study was to determine the clinical, neurophysiological and biological features of Parkinson's Disease (PD) patients with L-Dopa-induced dyskinesias (LIDs). Background:…Quantification of an Upper Limb Rigidity Network in Parkinson Disease
Objective: To explore the cortico-subcortical network related to rigidity. Background: Rigidity of the upper limb is one of the cardinal symptoms in Parkinson’s disease (PD),…V-ATPase subunit V1G1 overexpression conferred the mice neuroprotection during MPTP exposure
Objective: Elucidating the role of lysosomal dysfunction due to altered stability and expression levels of V-type proton ATPase subunit G (V1G1) in the degradation and…Determining Cerebrospinal Fluid Alpha-Synuclein Seed Amplification Assay Status from Demographics and Clinical Data
Objective: To develop models that determine likeliness of positive detection of pathologic alpha-synuclein (asyn) in cerebrospinal fluid (CSF) as measured by seed amplification assay (SAA)…
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