The Genetic and Phenotypic Spectrum of Primary Familial Brain Calcification in a large cohort from China
Objective: To update the genetic spectrum of primary familial brain calcification (PFBC) and phenotypic characteristics in genetically diagnosed PFBC, and provide genotype-imaging-symptoms correlations of PFBC.…Heterozygous ATP7B variants in patients with parkinsonism
Objective: To describe a retrospective case series of thirteen cases carriers of heterozygous variants of the ATP7B gene manifesting with specific cases of parkinsonism. Background:…Feasibility of AI-Assisted Screening for Early Parkinson’s in Resource-Limited Settings
Objective: To evaluate the feasibility of AI-assisted screening for early Parkinson’s disease (PD) in Tunisian primary care. Background: PD poses a growing challenge in Tunisia,…Patient-Reported Satisfaction and Usability of a Virtual Home-Based Program for Fall Prevention in Parkinson’s Disease
Objective: To evaluate participant perspectives and satisfaction with a virtual home safety intervention to reduce environmental fall risks in persons with Parkinson’s disease (PwPs). Background: While…Disease Characteristics of the First 100 Participants in the CurePSP Genetics Program Cohort
Objective: To increase our understanding of the pathogenesis of atypical parkinsonian disorders though genetics, and to build a cohort of individuals for future research. Background:…Exploring The Correlation of Neuroimaging, Molecular and Electrophysiological Biomarkers in Patients with Progressive Supranuclear Palsy – Richardson Type
Objective: To correlate blood and electrophysiological biomarkers in Progressive Supranuclear Palsy – Richardson’s type (PSP-RS) patients with brain structural alterations using neuromorphometry. Background: Various biomarkers, including…30-year Delayed Diagnosis of Juvenile Parkinson’s Disease in a Patient Misdiagnosed with Dopa-responsive Dystonia
Objective: To report a case of Juvenile Parkinson’s Disease (JP) misdiagnosed as dopa-responsive dystonia (DRD) and to emphasize the importance of early genetic testing in…Quantitative Gait Evaluation in Multiple System Atrophy: Supervised versus Unsupervised Analysis
Objective: This study aims to compare gait parameters in real-world (RW) home settings with supervised clinical assessments on 6-minutes walking test (6MWT) in MSA patients…Differences Between Clinical and Imaging Phenotypes in Phase 2 Study of ATH434 in Multiple System Atrophy
Objective: To assess differences between clinical and imaging phenotypes in Multiple System Atrophy (MSA) and evaluate the reliability of imaging biomarkers for subtype classification. Background:…Temporal disease patterns prior to Progressive Supranuclear Palsy diagnosis
Objective: To identify Progressive Supranuclear Palsy (PSP) disease trajectories, defined as the pattern of diagnoses over time, prior to PSP diagnosis in electronic health records.…
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