Usability Evaluation of a Web-based Interface for Self-Management, Remote Monitoring and Timely Review for Parkinson’s Disease (SMaRT-PD)
Objective: To evaluate the usability and acceptability of a user-interface for a clinical decision support system (CDSS), SMaRT-PD, for Parkinson’s disease. Background: PD is an…Laryngeal Dystonia, Dopa-Responsive Parkinsonism and Primary Progressive Aphasia with Alzheimer Disease Pathology
Objective: To report a case of laryngeal dystonia (LD), parkinsonism and primary progressive aphasia (PPA) with Alzheimer disease (AD) pathology Background: The presence of 3-4 neurological…Seed amplification assay detects alpha-synuclein in cerebrospinal fluid in pre- and symptomatic autosomal dominant Alzheimer’s disease
Objective: To examine the ability to detect concurrent Lewy Body Disease via Lew Body pathology (LBP) in Autosomal Dominant Alzheimer’s Disease (ADAD) through detection of…Exploring the Association of APOE Polymorphism and the Clinical Course of CSF1R-Related Disorder
Objective: To assess the frequency of APOE alleles and their association with clinical course of Colony Stimulating Factor 1 Receptor-Related Disorder (CSF1R-RD). Background: CSF1R-RD is…Dopamine Responsive ATP1A3 Dystonia Parkinsonism A Case Report
Objective: We present a rare familial case of a patient with ATP1A3 dystonia parkinsonism, which improved with levodopa. Background: Rapid onset dystonia parkinsonism can be…Automatic Intelligibility Rating in Parkinson’s Disease: A Multilingual Approach
Objective: To investigate the validity and robustness of an automatically generated intelligibility score in Parkinson’s disease (PD) across multiple languages. Background: 90% of people with…Diagnostic mismatches between clinical assessment, imaging and alpha-synuclein biomarkers in parkinsonian syndromes
Objective: To analyze the frequency of matching information provided by traditional clinical assessment, dopamine transporter (DaTscan), and skin biopsy results in patients with undiagnosed parkinsonian syndromes. Background:…LRRK2 Mutation in a Patient with NMDA and GAD 65 Antibodies
Objective: To describe case of a patient who presented with a history of autoimmune encephalitis with NMDA receptor and GAD 65 antibodies positive in cerebrospinal…HPRT1 Gene Mutation in a Young Male with Early Childhood Onset Seizures-Parkinsonism and Levodopa-Induced Dyskinesia: A Case Report
Objective: To report the clinical course, diagnostic evaluation, and genetic findings in a 24-year-old male with early childhood onset tremor, seizures ,bradykinesia and rigidity ,…Role of 7-Tesla MRI in assessing clinical symptoms in CSF1R-Related Disorders
Objective: To evaluate utility of 7-tesla magnetic resonance imaging (7T MRI) as a biomarker of CSR1R-Related Disorder (CSF1R-RD). Background: CSF1R-RD is a rapidly progressive neurodegenerative…
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