A better understanding of Paediatric Paroxysmal Movement Disorders
Objective: To clinically characterise paroxysmal movement disorders (PxMD) and determine prevalence in a paediatric population for the first time. Background: Characterised by episodic involuntary movements,…ATP8A2 Mutation in a Tunisian Family : Expanding The Clinical Spectrum
Objective: Our aim was to report the clinical and paraclinical findings from two siblings who presented with a new phenotype of ATP8A2 gene mutation. Background:…Dysfluent Writing Behavior Associates with Reduced Striatal-cerebellar Connectivity in Writer’s Cramp Dystonia
Objective: The primary objective of this study was to identify the brain regions contributing to dysfluent writing behavior in a subtype of dystonia called writer’s…Changes In Glucose Metabolism In Essential Tremor: Within And Beyond The Cerebello-Thalamo-Cortical Circuit
Objective: To investigate differences in brain glucose metabolism between patients with essential tremor and healthy controls using [18F]FDG PET brain imaging. Background: The pathophysiological mechanisms…Classification of Tremor and Myoclonus: An Explainable Machine Learning Approach
Objective: Providing a proof of concept for the classification of movement disorders using explainable machine learning applied to power spectra derived from accelerometry recordings. Background:…Ultrasound Assessment of Collagen Content in Contracted and Non-contracted Muscle Areas: A Comparative Study
Objective: The objective of this study was to evaluate the feasibility and reliability of ultrasound imaging as a method to estimate collagen content in contracted…Exploring Correlations between Mutant Huntingtin, NfL, and MRI in Huntington’s Disease: A Multimodal Analysis
Objective: This study aims to investigate correlations between mHtt and NfL levels and MRI findings in individuals at different stages of HD, including presymptomatic and…Ataxia, tremor, fasciculations and hemiparesis in a GBA1 heterozygous female carrier
Objective: Our aim is to present a woman carrying a heterozygous GBA1 mutation who developed exclusively neurological symptoms in adulthood. Background: The diagnosis of Gaucher…Genetic Architecture Of Movement Disorder And Its Association With Consanguinity In Pashtoon Population
Objective: Purpose of the study was to improve the understanding on genetic basis of movement disorders and use of this information for protective measurements like…the Degeneration of Locus Coeruleus and its Enhanced Causal Relationship to Neural Circuit in Parkinson’s Tremor
Objective: We aim to decode the neuroimaging features of LC in Parkinson's tremor. Background: Tremor is the primary symptom of Parkinson's disease (PD) and exhibits…
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