Childhood onset progressive myoclonus and ataxia in a patient with novel TBC1D2B gene mutation
Objective: Myoclonus, ataxia, tremor and dystonia have been described in some patients with TBC1D2B gene mutation. In this paper we present a patient with progressive…Effectiveness of abobotulinumtoxinA in adults with lower limb spasticity: Results from the AboLiSh real world observational study
Objective: Assess longitudinal goal attainment with repeated injections of abobotulinumtoxinA (aboBoNT-A) in the lower-limb over 16-months in a routine clinical setting. Background: While the efficacy…Mapping the Landscape of Tourette Syndrome Research: A Bibliometric Analysis
Objective: To analyse Tourette Syndrome research trends, methodologies, and key findings to identify focus areas and guide future investigations in understanding and treating this complex…Dentato-Rubro-Thalamic Tract Deep Brain Stimualtion for Essential Tremor: Stimulation Parameters and Clinical Outcomes
Objective: To assess the stimulation parameters and 2-year clinical outcomes of deep brain stimulation (DBS) of the dentato-rubro-thalamic tract (DRTt) for the treatment of essential…Association of cognition and other clinical characteristics of individuals with Essential Tremors
Objective: To examine the correlation between cognition and other clinical characteristics (motor and non-motor) in people with Essential Tremor. To examine the correlation between cognition and…Feasibility of Reliable, Remote Assessment of a 13-year-old Boy Who Stopped Talking
Objective: To assess the feasibility of reliable, remote assessments of videos of a 13-year-old boy who stopped talking Background: The sudden absence of speech in…Utility of Whole Exome Sequencing in movement disorders potentially related to Mitochondrial cytopathies
Objective: To describe the clinic-genetic profile of clinically suspected mitochondrial cytopathies with movement disorders (MDs). Background: Literature on the clinico-genetic spectrum of movement disorders related…Investigating the genetic relationship between vitamin B12 deficiency and Parkinson’s disease
Objective: The aim of this study was to investigate the genetic association and causal link between vitamin B12 and the risk and progression of Parkinson's…The First of Its Kind Genetics Cohort: the Black and African American Connections to Parkinson’s Disease (BLAAC PD) Study
Objective: Recruit and characterize a Black and African American (BAA) cohort to better understand Parkinson’s disease (PD). Background: A significant gap exists in our understanding…Genome-wide Assessment of Homozygosity in Parkinson’s Disease Across Diverse Ancestral Population
Objective: Our objective is to undertake the most extensive screening of the impact of homozygosity in Parkinson's disease (PD) etiology across diverse populations. We aim…
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