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…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…Wearable-based Virtual Motor Exam enables remote tracking of motor symptom progression in early-stage Parkinson’s disease
Objective: To evaluate the ability of smartwatch-based measures of tremor, bradykinesia and gait to capture Parkinson’s disease (PD) progression. Background: Wearable sensors enable remote, objective,…GNAI1-Associated Childhood-Onset Hyperkinetic Movement Disorder: A Case Report
Objective: To describe the clinical presentation, diagnostic evaluation, and genetic findings in a 7-year-old male with a hyperkinetic movement disorder associated with a novel GNAI1…Antisense Oligonucleotide Treatment in Ataxia-Telangiectasia
Objective: Describe results of an antisense oligonucleotide (ASO) treatment trial in a patient with ataxia-telangiectasia (AT). Background: AT is a neurodegenerative, incurable disease of children…Longitudinal FDG-PET Study of Metabolic Trajectories and Connectivity Alterations in Multiple System Atrophy
Objective: 本研究使用 FDG-PET 探索 MSA 中葡萄糖代谢和网络连接的纵向变化，以辅助早期诊断和监测疾病进展。 Background: Multiple system atrophy (MSA) is a rapidly progressive neurodegenerative disease with distinct metabolic patterns in its parkinsonian (MSA-P)…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…Expanding the Spectrum of Alzheimer’s Disease Clinical Presentations: Progressive Dysarthria with Monomelic Tremor
Objective: To present an unusual clinical presentation of an atypical Corticobasilar syndrome secondary to Alzheimer's disease. Background: Corticobasilar syndrome (CBS) typically presents with motor symptoms…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…The effectiveness and safety of autologous adipose derived stromal vascular components (SVF) in the treatment of multiple system atrophy
Objective: This study aimed to explore the efficacy and safety of autologous adipose - derived stromal vascular fraction (SVF) in treating MSA. Background: Multisystem atrophy…
- « Previous Page
- 1
- …
- 91
- 92
- 93
- 94
- 95
- …
- 1734
- Next Page »