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)…Plasma biomarkers for rapid eye movement sleep behavior disorder in Parkinson’s disease: a prospective cohort study
Objective: We aimed to investigate the plasma biomarkers of rapid eye movement sleep behavior disorder (RBD) in a large PD cohort. Background: RBD is one of the most…Longitudinal Gait Speed Analysis at Prodromal and Early Stage of Parkinson’s Disease
Objective: We aimed at exploring gait speed (GS) as a potential biomarker of disease evolution in early stages of PD with three objectives. 1- To…
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