Characteristics and Treatment Response to OnabotulinumtoxinA of Patients From CD-PROBE With Anterocollis Subtype of Cervical Dystonia
Objective: To describe characteristics and treatment response of patients with anterocollis (AC) treated with onabotulinumtoxinA (onabotA). Background: CD-PROBE included onabotA-treated patients with AC, providing an…The development of a screening tool to identify movement disorders in patients with inborn errors of metabolism
Objective: To develop a user-friendly rapid screening tool for non-movement disorder specialists to detect movement disorders in patients with inborn errors of metabolism. Background: Movement…Characteristics and Treatment Response to OnabotulinumtoxinA of Patients From CD-PROBE With Retrocollis Subtype of Cervical Dystonia
Objective: To describe characteristics and treatment response to onabotulinumtoxinA (onabotA) of patients with retrocollis (RC). Background: The CD-PROBE trial of onabotA included patients with RC,…A National Data-Linkage Study of Incidence and Prevalence of Primary Dystonia
Objective: To determine the nationwide prevalence and incidence rates of primary dystonia in Wales. Background: The true prevalence and incidence of dystonia remains largely unknown…Non-Motor Symptoms in Cervical Dystonia Patients
Objective: to research the clinical and neurological features, non-motor states and quality of life in CD patients. Background: Cervical dystonia (CD) is a movement disorder…Late-onset Familial Segmental Dystonia with Novel GNAL Mutation
Objective: Report a unique onset of dystonia in family affected by tremor and segmental dystonia Background: Background: A 66-year-old woman of Norweigan descent presented with…Whole genome sequencing aids in diagnosing GCH1 dopa responsive dystonia in two Peruvian patients and influences medical management
Objective: To describe the clinical features and treatment response of two Peruvian patients with GHC1 dopa responsive dystonia diagnosed by whole genome sequencing. Background: Pathogenic variants in…A novel variant [c.2974G>A; (p.Asp992Asp)] of DYT/PARK-ATP1A3
Objective: To describe the clinical presentation of a novel likely pathogenic variant in ATP1A3. Background: Rapid onset dystonia-parkinsonism is related to mutations in ATP1A3 gene.…Diagnosis and management of Myoclonus Dystonia Syndrome: a Survey of the European Reference Network for Rare Neurological Diseases.
Objective: To evaluate the diagnostic and treatment strategies in Myoclonus Dystonia Syndrome (MDS) used by experts from the European Reference Network for rare neurological diseases…A novel ANO3 variant associated with generalized dystonia in an elderly woman
Objective: To report a case of dystonia that adds to the growing body of literature regarding the genotypic variants associated with the ANO3 gene implicated…
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