Pre-synaptic dopaminergic deficit in a patient with familial FTD
Objective: Clinical description of a patient with familial FTD with a rapidly progressive parkinsonism. Background: FTD typically presents with behavioral and cognitive deficits, but extrapyramidal…Atypical and slowly progressive FTDP-17 caused by MAPT p.R406W mutations – similarities to AD and PSP.
Objective: We compiled clinical data of a new kindred with the MAPT c.1216C>T (p.Arg406Trp; R406W) mutation and systematically reviewed previously described cases with this mutation.…PBB3 Imaging in Parkinsonian disorders: evidence for binding to abnormally aggregated proteins in addition to tau proteins
Objective: To study selective regional binding for tau pathology in vivo, using PET with [11C]PBB3 ([11C]methylamino pyridin-3-yl buta-1,3-dienyl benzo[d]thiazol-6-ol) in tauopathies, and in conditions not…IGF-1 levels are associated with CSF pathology and executive dysfunction in de novo Parkinson’s disease patients
Objective: To investigate whether serum insulin-like growth factor-1 (IGF-1) is associated with clinical-neuropsychiatric, imaging and CSF markers of PD pathology in patients with early, drug-naïve…Low cerebrospinal fluid 3,4-dihydroxyphenylacetic acid and 3,4-dihydroxyphenylglycol levels are biomarkers of Parkinsonian disorders, including PSP
Objective: To assess whether Progressive Sopranuclear Palsy (PSP) patients show, in CSF an alteration of catecholamine metabolites. Background: It was reported previously that, consistent with…Allele specificity in neurodegenerative olfactory dysfunction
Objective: Assess olfactory dysfunction in carriers of the p.N279K and p.P301L MAPT mutations, which cause FTDP-17, to understand how genotypic differences contribute to the severity…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…A pilot study of whole exome sequencing in progressive supranuclear palsy
Objective: To identify genetic variants associated with Progressive Supranuclear Palsy (PSP) using whole exome sequencing. Background: PSP is a rare tauopathy but is the second…High throughput pooled-DNA sequencing of mendelian/susceptibility Parkinson’s disease genes in Spanish population
Objective: The primary outcome of our study was the identification of rare variants in 5 major Mendelian PD genes (SNCA, PARK2, PINK1, DJ1, LRRK2) and…Phosphorylation by GSK-3β enhances binding of metal ion induced tau oligomers to neutral lipid surfaces
Objective: To dissect the complex interplay of tau hyperphosphorylation, metal ion induced oligomer formation and membrane interactions applying single particle fluorescence techniques. Background: Fibrillar deposits…
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