Paroxysmal multifocal dystonia with hemiplegic migraine possibly related to novel CACNA1A mutation
Objective: To report a case of a unique clinical presentation of hemiplegic migraine associated with paroxysmal multifocal dystonia possibly related to a novel CACNA1A mutation.…Neuronal responses of pallidal and cerebellar receiving thalamic nuclei to neck exertion in cervical dystonia patients
Objective: The goal of the study was to find differences in spontaneous and neck-related activity of pallidal and cerebellar receiving thalamic nuclei in patients with…Generation and in-depth characterization of induced pluripotent stem cell (iPSC) lines from 10 affected and unaffected carriers of THAP1 mutations
Objective: To establish induced pluripotent stem cells (iPSCs) of affected and unaffected Mutation carriers to investigate disease mechanisms of THAP1 in dystonia. Background: Mutations in…The phenotype of ATP1A3+ Rapid-Onset Dystonia-Parkinsonism (RDP) is broader than previously defined
Objective: To update the phenotype of RDP based on a cohort of ATP1A3 mutation+ individuals. Background: RDP is caused by mutations of the ATP1A3 gene,…Different Characteristics of Action Tremor in Essential Tremor and Tremor Associated with Dystonia
Objective: To explore the characteristics of tremor in patients with essential tremor (ET) and tremor associated with dystonia (TAWD) by using neurophysiology and time frequency…“Stiff Young Woman”: Case report
Objective: To describe a rare presentation of a young-onset Stiff Person Syndrome patient. Background: The Stiff-Person syndrome (SPS) is classically characterized by progressive stiffness with…Zolpidem effect in task specific dystonia – clinical and neurophysiological study
Objective: We conducted a double blind, placebo-controlled crossover study to examine clinical and neurophysiological effect of zolpidem in patients with task specific dystonia. Background: Task…Temporal Discrimination Threshold is Associated with Multiple Regions of Resting-State Brain Activity in Musician’s Dystonia
Objective: To examine temporal discrimination threshold (TDT) score across different but related forms of task-specific focal dystonia and to assess the correlation between TDT alterations…Unique task specific oromandibular dystonia associated with Quran recitation
Objective: To describe clinical features of oromandibular dystonia induced by Quran recitation. Background: Task specific focal dystonias occurring exclusively during highly skilled motor tasks have…An EMG-Motion capture analysis of Golfers with the Yips
Objective: To identify and quantify differences in shot kinematics using motion capture and Electromyography (EMG) correlates during a Golf Putting task among professional golfers for…
