Analysis of LINGO1 and LINGO2 genes in essential tremor and Parkinson’s disease
Objective: We studied the involvement of LINGO1 and LINGO2 in Russian patients with ET and PD. Background: Genetics of ET is unclear. Three candidate loci…Comparing tremor- and non-tremor effects of ethanol in patients with essential tremor
Objective: To explore the relationship between self-reported non-tremor effects of ethanol and objective tremor severity in Essential Tremor (ET). Background: Ethanol has been demonstrated to…Modelling spinocerebellar ataxia 15 with iPS cell derived neurons
Objective: Here we set out to study the cellular pathology of ITPR1-deletions underlying SCA15 in a human model of iPSC-derived cortical neurons. Background: Spinocerebellar Ataxia…Cerebellar ataxia and pregnancy
Objective: IVIG is a good treatment for autoimmune cerebellar ataxia (high anti-GAD antibody). Background: IVIG should be considered as a therapy for cerebellar ataxia related…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…
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