KMT2B-related disorders: Expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Objective: Clarifying clinical phenotype, molecular genetic features and evolution with deep brain stimulation (DBS) of KMT2B related disease. Background: Heterozygous mutations in KMT2B are associated…Concordance of different evaluation approaches of non-motor symptoms in patients with cervical dystonia
Objective: The aim of our study was to assess the concordance of different evaluation approaches of non-motor symptoms (NMS) in patients with cervical dystonia (CD).…De-novo ß-actin mutation as a cause of seemingly sporadic dystonia-deafness syndrome responsive to deep-brain stimulation
Objective: To elucidate the cause of dystonia and deafness in a 37-year-old woman and to evaluate the response to deep brain stimulation (DBS). Background: Dystonia-deafness…Regional, Not Global, Functional Connectivity Contributes to Isolated Focal Dystonia
Objective: To test the hypothesis that there is shared regional or global functional connectivity dysfunction in a large cohort with isolated focal dystonia affecting different…Management of Dystonia in Europe from Patients’ Experience
Objective: To investigate management of dystonia in Europe from patients' experience obtained from on-line survey. Background: We have reported a lack of specific training in…Initial Results from the Zambian Epidemiology of Parkinson’s disease and Healthcare Registry (ZEPHyR)
Objective: To describe the launch and preliminary findings of ZEPHyR, the first Parkinson’s Disease (PD) registry in Zambia. Background: PD is the second most common…Estimation of latent class mixed models towards discovery of subgroup trajectories of MDS-UPDRS part II, part III, and ambulatory capacity in Parkinson’s disease
Objective: To use latent mixed modeling (LMM) for the identification of subgroups of people living with Parkinson’s disease (PD) who have statistically distinct trajectories of…Atypical alternating hemiplegia of childhood in Korea: A case report
Objective: To report an atypical case of alternating hemiplegia of childhood (AHC), which has not yet been reported in Korea. Background: The ATP1A3 gene pathologic…Epidemiology of Huntington’s Disease (HD) in the US Medicaid Population
Objective: To estimate the current prevalence of Huntington’s disease (HD) among Medicaid beneficiaries in the United States (US). Background: HD is a genetic, progressive, neurodegenerative…Development of a time-to-event endpoint for use in premanifest Huntington’s disease (HD) clinical trials
Objective: To develop and evaluate a time-to-event endpoint to measure disease progression in individuals with premanifest HD. Background: HD is typically diagnosed between the ages…
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