Proteome-Wide Association Study Identifies Plasma β-Glucuronidase as a Causal Risk Protein for Multiple System Atrophy
Objective: This study aims to identify plasma proteins associated with multiple system atrophy (MSA), using a proteome-wide association study (PWAS) and to determine their causal roles…Atrophy In Multiple System Atrophy Relates To Mitochondrial And Oligodendrocytic Processes
Objective: To investigate the gene expression and neurobiological underpinnings of brain atrophy in MSA using imaging transcriptomics and PET-based molecular annotation Background: The biological mechanisms…Metabolic Patterns in Multiple System Atrophy: Brain Network Insights from Spatial ICA of FDG-PET
Objective: This study employs spatial independent component analysis (ICA) on 18F-fluorodeoxyglucose (FDG)-PET imaging to decompose metabolic heterogeneity in Multiple system atrophy (MSA), identifying key brain…Spatial Metabolic Covariance Networks in PSP: Implications for Symptomatology and their Neural Basis
Objective: This study aimed to apply spatial ICA to 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET) data from PSP patients and healthy controls (HCs) to identify…Clinical Deficits, Quality of Life and Caregiver Burden across PSP Phenotypes
Objective: To assess clinical deficits, quality of life and caregiver burden across progressive supranuclear palsy (PSP) phenotypes considering also other variables such as age, sex…Increased Health Care Utilization in Children/Adolescents With Tourette Syndrome Treated With Dopamine D2 Receptor Antagonists: An Electronic Medical Records Database Analysis
Objective: To compare health care resource utilization (HCRU) in dopamine D2 receptor antagonist (D2RA)-exposed versus D2RA non-exposed individuals with Tourette syndrome (TS). Background: TS is…Management of Grisel’s Syndrome with Botulinum Toxin: A Case Report
Objective: To present a case of Grisel’s syndrome (GS), highlighting challenges and the efficacy of botulinum toxin therapy in treatment. Background: Grisel’s syndrome (GS) is…Diagnosis of GLUT1 Deficiency Syndrome in Adulthood
Objective: To present a case of GLUT1 deficiency syndrome diagnosed in adulthood emphasizing the need to keep this diagnosis in differential for adult patients with…Novel CUX2 Mutation Identified in Patient with Clinical Paroxysmal Nonkinesigenic Dyskinesia
Objective: In this case, we present a novel mutation in the regulatory region for CUX-2 that is associated with clinical PNKD. Background: Paroxysmal nonkinesigenic dyskinesias…Retrospective Analysis of our Supportive Care Clinic and Lifestyle Improvement Fitness Program
Objective: The Supportive Care Clinic and Lifestyle Improvement Fitness (LIFT) program provides multidisciplinary care and online educational resources for our parkinsonian patients. Demographics of patients…
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