Movement disorders as a manifestation of aceruloplasminemia a case report
Objective: To develop a step-by-step diagnostic approach to aceruloplasminemia with initial presentation of movement disorders Background: Aceruloplasminemia is a rare iron overload disorder with autosomal…The Impact of Non-Motor Symptoms on Quality of Life in Early Parkinson’s Disease: A Prospective Study
Objective: To assess the prevalence and severity of non-motor symptoms (NMS) in early Parkinson’s disease (PD) and their impact on health-related quality of life (HRQoL).…Quantitative evaluation of speech characteristics in Assessment of Motor Speech for Dysarthria (AMSD) using acoustic analysis
Objective: This study aims to extract acoustic features from speech data obtained from patients undergoing the Assessment of Motor Speech for Dysarthria (AMSD), a clinical…Empathy in Action A Sensory Experience for Healthcare Providers
Objective: Evaluate the impact of a multisensory, hands-on experience designed to simulate the motor and non-motor symptoms of Parkinson’s disease (PD) on healthcare providers’ (HCPs)…Phenotypic Variability Across Four Generations in a Family with CACNA1A Mutation
Objective: Our objective is to describe phenotypic variability across four generations in a family with a specific CACNA1A mutation. Background: CACNA1A is a gene located…A Clinical Overlap Presentation of Episodic Ataxia Type 2 and Periodic Paralysis with a Novel Mutation in CACNA1A
Objective: To describe a case of episodic ataxia type 2 (EA2) with features of periodic paralysis (PP) associated with a novel mutation in CACNA1A. Background:…Role and Integration of a Dietitian into the Deep Brain Stimulation Multidisciplinary Screening Process
Objective: Define the role and integration of a dietitian into the multidisciplinary screening process for deep brain stimulation (DBS) in movement disorders. Background: Most DBS…Acceptability, Feasibility, and Appropriateness of wearable technology in Lewy body dementia
Objective: Determine implementation outcomes of Apple watches amongst individuals with Lewy body dementia (LBD) and their care partners. Background: Wearable technology can provide valuable information about…Identification of Cerebrotendinous Xanthomatosis in Patients with Neurodegenerative Disorders from the Cincinnati Cohort Biomarker Program
Objective: To develop an algorithm for identifying patients with cerebrotendinous xanthomatosis (CTX) in a cohort of individuals with neurodegenerative disorders. Background: CTX is a rare…Neurological manifestations and genotypes of Gaucher disease type 3: MDSGene systematic review
Objective: To characterize the spectrum of neurological manifestations of Gaucher disease type 3 (GD3) and identify the most common GBA1 variants. Background: Gaucher disease is…
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