Novel variants in the SACS gene in a first Central-Eastern European family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Objective: To present genetics, clinical description and natural history of the disease in four members of a Polish family with novel variants in the SACS…GAA expansion with clinic/urodynamic findings in Friedreich’s ataxia with LUTS
Objective: This study correlate the number of GAA repetitions of alleles, the duration of the disease, and the age at the onset of the disease…Magnetic resonance imaging and pyramidal impairment in Huntington disease
Objective: To identify structural involvement of the corticospinal pathway in Huntington disease (HD) with clinical upper motor neuron signs using diffusion tensor imaging (DTI). Background:…Striatal molecular alterations in Huntington’s disease gene expansion carriers: A systematic review and meta-analysis of PET studies
Objective: To systematically examine the evidence of striatal molecular alterations in premanifest and manifest Huntington's disease gene expansion carriers (HDGECs) as measured by Positron emission…Fast and simple non-invasive screening tool for mitochondrial changes in Huntington’s disease
Objective: To use Complex I and Complex IV Human Protein Quantity Dipstick Assay Kits to analyse mitochondrial changes in buccal epithelial cells of patients with…THK-5351 tau-tracer uptake in patients with clinically diagnosed progressive supranuclear palsy
Objective: The objective of our study is to investigate characteristics of THK-5351 binding in patients with clinically diagnosed progressive supranuclear palsy (PSP) and correlate tau-tracer…Effects of age and gender on brainstem MR-planimetry
Objective: To evaluate age- and gender effects on brainstem MR-planimetric measures. (1,2). Background: Brainstem planimetry has been successfully applied to differentiate Progressive Supranuclear Palsy (PSP)…The regulation of ASIC1a on dopamine release and its implication in the pathogenesis of Parkinson’s disease
Objective: To study the distribution of acid-sensing ion channel 1a (ASIC1a) in dopaminergic neurons and its role in regulating dopamine release, and to explore its…Pronounced beta oscillations are a characteristic of the cortico-basal ganglia loop of subacute and chronic animal models of Parkinson´s disease
Objective: To compare the power spectral densities of local field potentials recorded from the cortico-basal ganglia loop of a subacute (reserpine) and a chronic (6-OHDA)…Altered brain activation in complex walking conditions in patients with Parkinson’s disease
Objective: To investigate (1) the differences in neural activation during complex walking that possesses different cognitive demands and (2) the influence of neurodegenerative disease as…
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