Frequency and Phenoptypic Spectrum of KMT2B Mutations in Childhood-Onset Dystonia: Results from a Single-Centre Cohort Study
Objective: To assess the frequency of KMT2B mutations in a cohort of patients with childhood-onset dystonia and characterize the related molecular and phenotypic spectrum. Background:…ADCY5-related disorder associated with status dystonicus
Objective: To report a case of ADCY5-related disorder case associated with status dystonicus and DBS efficacy in this patient. Background: Early-onset hyperkinesias may occur in…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…Dystonia, Tremor, and Dystonic Tremor
Objective: To understand the relationship between dystonia, tremor, and dystonic tremor. Background: Dystonia and tremor are distinct but frequently co-occurring movement disorders. The particularly ambiguous…Good response to bilateral GPI-DBS after 2 years in generalized dystonia due to a mutation in the KMT2B gene (DYT28)
Objective: To report a case of generalized primary dystonia due to a mutation in the histone methyltransferase gene (KMT2B) treated with globus pallidus interna deep…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…A machine learning approach to determine the important patient characteristics for tremor prevalence and tremor irregularity in dystonia
Objective: To evaluate the importance of dystonia features that can predict concurrent tremor prevalence and tremor irregularity. (2) To cluster dystonia cases based on important…Propofol-induced acute dystonic reaction after orthopedic surgery in a young healthy woman
Objective: Background: Acute dystonic reactions (ADR) are well known adverse effects of dopamine receptor blocking agents, as antipsychotics or anti-emetics. Propofol-induced ADR, albeit yet described,…Encephalopathy in a Japanese patient with Rapid-Onset Dystonia-Parkinsonism carrying a Novel ATP1A3 mutation
Objective: To investigate underlying pathomechanisms of DYT/PARK-ATP1A3 in Japanese patient with rapid-onset dystonia-parkinsonism (RDP). Background: Mutations in ATP1A3 would lead to development of various neurological…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…
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