Phenotypic Aspects of Huntington’s Disease-Like 2 in Brazil and the World: Literature Review
Objective: To describe the known phenotypic profile of HDL2 patients currently described in the literature. Background: HDL2 is an autosomal dominant neurodegenerative disorder caused by…Acute Chorea in The Emergency Department Related to Systemic Lupus and Antiphospholipid Syndrome: A Case Report
Objective: To report a case of acute chorea syndrome in a young patient, secondary to Systemic Lupus Erythematosus (SLE) and Antiphospholipid Syndrome (APS). Background: Movement…Subacute Combined Degeneration in Wilson Disease: Treatment Dilemma
Objective: To report a Wilson disease patient (WD) with subacute combined degeneration (SCD) from zinc and D-penicillamine. Background: Copper-lowering treatments are main strategies to reduce…KMT2B-Related Dystonia And DBS: Tertiary Center Experience
Objective: This study aims to evaluate the functional outcomes and effectiveness of deep brain stimulation (DBS) in patients with genetic dystonia secondary to a KMT2B …Chronic striatal cholinergic agonist infusion as a model of dystonia
Objective: The objectives of this work were to create a primate model of dystonia based on striatal infusion of a muscarinic agonist (oxotremorin), and to…Beyond the Surface: Electromyography in Cervical Dystonia
Objective: To evaluate the presence of co-contractions and overflow in cervical dystonia (CD) patients and appraise the applicability of intermuscular coherence as an objective biomarker…Machine Learning-Driven Exploration of Epigenetic Patterns in Huntington’s Disease: Understanding Histone Modification Dynamics
Objective: This study explores histone modifications, an underexplored aspect of HD's epigenetics, aiming to uncover markers influencing disease severity and onset for potential therapeutic targets.…Measuring Cortisol Levels in Persons with Huntington’s Disease
Objective: To assess subjective and objective measures of emotional stress via standardized scales and a physiological measure (salivary cortisol) in persons with Huntington’s Disease (HD)…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…
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