Multimodal voxel-based analysis of the infratentorial brain region in Richardson’s syndrome, progressive supranuclear palsy-parkinsonism, Parkinson variant of multiple system atrophy and Parkinson’s disease
Objective: Voxel-based analysis was applied to MRI parameters of iron content (transverse relaxation rate, R2*), microstructural integrity including mean diffusivity (MD) and fractional anisotropy (FA)…The relevance of movement disorders gene panels in clinical practice: How many patients are we sorting out?
Objective: To investigate the impact of movement disorder gene panels in clinical practice and the proportion of patients receiving a definite genetic diagnosis through Next…Mutant WDR45 links NBIA to impaired autophagy, mitochondrial dysfunction and oxidative stress
Objective: To examine the impact of mutant WDR45 on autophagy,mitochondrial function,and oxidative stress capacity in patient's fibroblasts. Background: Mutations in the WD repeat domain 45…Neurodegeneration with brain iron accumulation (NBIA): Two cases with different subtypes and a rare mutation
Objective: We present two cases with clinical, radiological and genetical (a very rare mutation) findings of neurodegeneration with brain iron accumulation (NBIA). Results: Case 1.…
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