sFIDA: A sensitive diagnostic assay for quantification of α-synuclein aggregates
Objective: Optimizing of our sFIDA (surface-based fluorescence intensity distribution analysis) assay for specific detection and quantification of single α-synuclein aggregates. Background: Parkinson's disease (PD) is…Sensor based gait analysis: Diagnostic application for apomorphine titration
Objective: The goal of the present study was to quantify individual gait changes by eGaIT during the standardized titration test for subcutaneous apomorphine treatment. Background:…Efficacy and safety of a L-dopa delivery and monitoring medical device
Objective: The objective of this study is to evaluate algorithms in a medical device for l-dopa delivery and monitoring. This wearable medical device will measure…Analysis of MAPT, GRN and C9orf72 genes in progressive supranuclear palsy, corticobasal syndrome and frontotemporal lobar degeneration in Russian population
Objective: To investigate MAPT variants and haplotypes, GRN mutations, and C9orf72 expansion in a cohort of Russian patients with progressive supranuclear palsy (PSP), cotricobasal syndrome…FBOX07 mutation with juvenile parkinsonism and behavioral disorders
Objective: FBX07 (PARK15) mutations cause juvenile parkinsonism with autosomal ressesive inheritance. Juvenile parkinsonism, pyramidal tract signs and atypical symptoms such as dystonia, chorea, behavioral disturbances,…A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family
Objective: To present the clinical features and genetic findings of a Turkish family a new DJ1 mutation and presenting with early-onset levodopa responsive parkinsonism and…Exome sequencing in the Czech patients with early-onset Parkinson’s disease
Objective: To evaluate prevalence of disease causing mutations and other rare variants in patients with the Early-Onset Parkinson's disease (EOPD). Background: Currently, there are four…Protective effects of ATP13A2 in Parkinson’s disease models
Objective: Decipher the role of ATP13A2 in Parkinson's disease. Background: ATP13A2 is a lysosomal P-type ATPase with significant implications in Parkinson's disease (PD). Little is…Premotor phase of PD in two GBA mutation carriers
Objective: To identify premotor phase of Parkinson's disease (PD) in obligate GBA heterozygous carriers. Background: GBA mutation carriers are in greater risk of developing PD.…A heterozygous splicing variant in NPC2 in a patient with PSP
Objective: Clinical, neuroimaging, genetic and biochemical characterization of a patient with a PSP-like phenotype carrying a splicing mutation in NPC2. Background: Niemann-Pick type C disease…
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