Serum urea and clinical outcomes in Huntington’s disease
Objective: To investigate the relationship between serum urea levels and clinical outcomes in people with Huntington’s disease. Background: Several studies in people with Huntington’s disease…Genetic Migration Dynamics: Unraveling the Influence of Internal Migration on Huntington’s Disease Prevalence in the Amazonas State.
Objective: In this study, we investigate the influence of internal migration within Brazil on the prevalence of Huntington's disease in the state of Amazonas. Background:…Unusual Causes of Reversible Myoclonus: A Video Based Case Series
Objective: To report three patients with atypical causes of myoclonus which were completely reversible. Background: Myoclonus is characterised by sudden brief jerky movements caused by…Feasibility and Comprehensibility of the SMD Decision Tree for Early Recognition of Spasticity
Objective: The comprehensibility, feasibility, and appraisal of the Spastic Movement Disorders Decision Tree (SMD-DT) was assessed by qualitative analysis of study feedback collected from raters…Exploring youth with Tourette syndrome whose tics first manifested after age 12
Objective: To determine whether forms of Tourette syndrome (TS) first manifesting in adolescence (age 12 or older) are different from forms of TS occurring in…Dual Pathways of Holmes Tremor Suggested from the Experience of Deep Brain Stimulation
Objective: To explore the pathways related with Holmes tremor, we evaluated the tremor suppression effect of deep brain stimulation (DBS), with the diffusion tensor imaging…Sleep profiles in patients with Essential Tremor and Essential Tremor Plus: Polysomnography Insights
Objective: This study aims to assess sleep disturbances in Essential tremor (ET) and its variant, ET plus, compared to healthy controls using Polysomnography (PSG), and…Application of Neurophysiology in the Clinical Evaluation of Pediatric and Adolescent Patients with Tremor
Objective: We explored the utility of noninvasive electrophysiological tremor studies in patients referred for evaluation by pediatric movement specialists following their clinical assessment . The…Complex Movement Disorders in Late Onset TPP1 Gene Mutation (Atypical Neuronal Ceroid Lipofuscinosis Type 2)
Objective: To describe an atypical late onset phenotypical presentation of a homozygous TPP1 mutation with complex movement disorders. Background: TPP1 mutations, lead to deficiency of…GBA1 deficiency differentially affects endolysosomal trafficking in neurons and astrocytes
Objective: To characterize how GBA1 deficiency alters endolysosomal trafficking in astrocytes versus neurons. Background: Mutations in the gene glucosidase, beta acid 1 (GBA1) not only increase risk…
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