The interrater variability in clinical assessment of post-hypoxic myoclonus
Objective: To investigate the interrater variability in clinical assessment of acute post-hypoxic myoclonus (PHM) after cardiopulmonary resuscitation. Background: PHM is a clinical symptom that can…Persistent myoclonic dystonia due to SCL2A1 mutation
Objective: We present a young woman with myoclonic dystonia due to a novel mutation in SCL2A1 gene. Background: Mutations in the SCL2A1 gene can cause…Children with idiopathic tics reveal additional features of hyperkinetic movement disorders
Objective: To investigate whether children with tics reveal features of additional hyperkinetic movement disorders. Background: The patho-physiology for idiopathic tic disorders is unknown, although underlying…Cognitive and behavioral problems in children and adolescents with myoclonus dystonia
Objective: To compare the neuropsychological and behavioral profile of A) children and adolescents with myoclonus dystonia (MD) to a healthy control group and B) MD…Alternating hemiplegia of childhood (AHC) as a new presentation of adenylate cyclase 5 (ADCY5)-mutation-associated disease
Objective: To expand and determine the clinical spectrum associated with mutations in the Adenylate Cyclase 5 gene (ADCY5). Background: Recently, mutations in the ADCY5 gene…Overlapping corticobasal syndromes: The many faces of the Armstrong criteria
Objective: To evaluate the prevalence and clinical presentation of corticobasal variants listed in the new Armstrong criteria, exploring their overlap with progressive supranuclear palsy (PSP),…
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