Leading Therapeutic Molecules Target Transcription Factors Binding to Repressor Region in FXN Gene
Objective: To investigate interactions of transcription factors (TFs) binding to repressor region located upstream to FXN gene with leading therapeutic molecules. Background: Low levels of…Specificity of neuronal activity in globus pallidus in patients with DYT1 dystonia
Objective: The aim of this study was a comparative analysis of the neuronal activity of globus pallidus in patients with DYT1 dystonia and idiopathic dystonia.…Initial experience with levodopa-entacapone-carbidopa intestinal gel infusion (LECIG) for the management of advanced Parkinson’s disease in Slovenia
Objective: To study the initial experience with levodopa-entacapone-carbidopa intestinal gel infusion (LECIG) in routine clinical practice at two University Medical Centers in Slovenia. Background: The…Meta-analysis between LARGE-PD cohorts reveals new potential susceptibility regions on the chromosome X
Objective: Perform Chromosome X-Wide Association Study (XWAS) per country from The Latin American Research Consortium on the Genetics of PD (LARGE-PD) and meta-analyze the results…Montreal Cognitive Assessment cutoff point for cognitive impairment in Mexican subjects with PD: A neuropsychological approach
Objective: To determine an optimal cutoff point of the MoCA for cognitive impairment detection in Mexican persons with PD. Background: Cognitive impairment (CI) is frequent…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…“Belly Dance Tremor” – Hip and Truncal tremor in Parkinson’s disease
Objective: To report unusual presentation of Young-Onset Parkinson’s disease with disabling hip and trunk rest tremor resembling “belly dance”. Background: Proximal tremor is not commonly…AN ATYPICAL ONSET OF PRIMARY FAMILIAL BRAIN CALCIFICATION: A CASE REPORT.
Objective: To describe a case of PFBC with atypical clinical onset. Background: Primary Familial Brain Calcification (PFBC), also known as Fahr's Disease, is a rare…CerebNet: Deep learning cerebellar subsegmentation for fast and reliable atrophy quantification
Objective: Establish a fast and reliable automatic tool for cerebellar subsegmentation. Background: Quantifying the volume of the cerebellum and its lobes is of profound interest…Mutation in TUBB4a causing from dystonia to spastic quadriparesis across one family
Objective: Here we want to present one family in which there is diverse phenotype with probable pathogenic novel mutation in TUBB4A gene. Background: Mutation in…
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