3′ UTR variations may alter the mRNA expression in spinocerebellar ataxia type-2.
Objective: 1. To study the miRNA binding site variations by direct sequencing of 3’ UTR of ATXN-2gene.2. To check the mRNA expression by using qRT-PCR…TREMOR AND BRADYKINESIA ARE TWO UNRELATED SIDE EFFECTS INDUCED BY VALPROATE INTAKE
Objective: To better characterize clinical and neurophysiological features of valproate-induced tremor in patients with epilepsy and the effect of valproate on the execution of voluntary…Clinical and genetic characterization of two Portuguese families with spinocerebellar ataxia 48
Objective: Genetic and phenotypic characterization of six patients from two families, with pathogenic variants on the STUB1 gene. Background: Biallelic pathogenic variants on the STUB1…Study of age related neurodegeneration of Cerebellum Basal Ganglia direct subcortical white matter tracts using fixel-based analysis.
Objective: The goal of the study is to use diffusion weighted imaging to confirm and expand on findings of structural tracks linking cerebellum (CB) and…Detection of specific antigens in immune-mediated cerebellar ataxias
Objective: We aimed to clarify biomarkers and pathogenic autoantibodies in cerebellar ataxia, especially multiple system atrophy (MSA) and immune-mediated cerebellar ataxias (IMCAs), by detection of…Challenging diagnosis of familial Gerstmann-Straussler-Scheinker disease with normal brain image: a case report and systematic review
Objective: We report a case of familial Gerstmann-Straussler-Scheinker (GSS) disease, who presented with cerebellar ataxia, but did not show abnormalities in diffusion weighted image (DWI)…Impaired reinforcement learning in patients with cerebellar ataxia
Objective: To further characterize cerebellar learning processes as well as learning impairment pattern in patients with cerebellar dysfunction. Background: Supervised learning (i.e., learning from error)…Clinical and Genetic spectrum of a series of congenital ataxias patients.
Objective: To describe the clinical and molecular findings of a well-defined group of 11 congenital ataxia patients from 12 different families assessed in an adult…Cognitive-affective syndrome related to cerebellar hypometabolism secondary to Covid-19 infection : a case report
Objective: To describe a novel case of Covid-19-related cognitive affective syndrome with cerebellar hypometabolism and associated neuropathy. Background: Several Covid-19-related neurological diseases have been described, including…Post-stroke dystonia: Three unique cases
Objective: Describing 3 unique post-stroke dystonia cases. Background: Dystonia, the 2nd most common post-stroke movement disorder, presents commonly contralateral to the lesion, focally, and 9.5…
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