Mechanism Study of Familial Cortical Myoclonic Tremor with Epilepsy Type 1 Caused by Pentanucleotide Repeat Expansion in the SAMD12 Gene
Objective: This study aims to explore the pathogenic mechanisms of familial cortical myoclonic tremor with epilepsy (FCMTE) using various cellular models, from the perspectives of…Identifying and Managing Spasticity in Neurological Shoulder Dysfunction
Objective: To understand this discrepancy between diagnosis and treatment of spasticity in neurological shoulder dysfunction, we formed an expert panel to establish consensus and provide…Gaps in Diagnosing and Treating Tic Disorders in Latin America: A Survey of Healthcare Workers
Objective: The objective of this study was to investigate the knowledge, treatment, and diagnosis pathways followed for Tic Disorders across Latin America. Background: Tic disorders…Tractography-guided versus Clinical Determination of the Most Effective Contact for Tremor Control in Patients with Deep Brain Stimulation – A Clinical Trial
Objective: To prospectively test the hypothesis whether imaging-guided contact selection based on standardized individual tractography of the dentato-rubro-thalamic tract (DRTT) is non-inferior to clinical contact…Artificial Intelligence Approaches for Tremor Detection and Classification from Hand-drawn Spirals
Objective: To classify tremor syndromes from pen-on-paper spirals using classical machine learning (ML) and deep learning techniques. Background: Spiral drawings are widely used as an…Jaw Clonus Masquerading as Jaw Tremor in a case of Amyotrophic Lateral Sclerosis (ALS)
Objective: To highlight the importance of distinguishing jaw clonus from jaw tremor which can be a useful sign in clinical diagnosis by reporting a case…Global presence and penetrance of CSF1R-Related disorder
Objective: The study aimed to assess the occurrence of CSF1R-related disorder (CSF1R-RD) and present the first haplotype analysis. Background: Since the discovery of CSF1-R gene…LRRK2 in Parkinson’s Disease: A per-domain rare-variant burden study
Objective: To study rare variant burden in different LRRK2 domains to investigate domain-based associations with Parkinson’s Disease (PD) and to identify functional variants in LRRK2.…Parkinson’s disease associated SORL1 variants impair mitochondrial and endo-lysosomal function
Objective: We investigate the relationship between Sortilin-related receptor (SORL1) gene and PD, along with their functional implications. Background: Parkinson's disease (PD) is a common neurodegenerative…Utility of using long-read whole genome sequencing to solve exome negative early-onset and familial Parkinson’s disease: a series of 106 individuals
Objective: (i) To identify complex variants usually not visible by short-read whole exome sequencing in known genes of Parkinson’s disease (PD) such as structural variants…
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