A Case of Disabling Orofacial Dyskinesias Caused by Lupus Anticoagulant
Objective: We describe a 93-year-old man with subacute, progressive onset of disabling orofacial dyskinesias (OD), found to have positive lupus anticoagulant (LA) and anti-beta2-glycoprotein IgA…An Open-Label, Phase 1b Study of the Neuroactive Steroid GABAA Receptor Positive Allosteric Modulator SAGE-324 in Essential Tremor
Objective: This single dose, open-label, Phase 1b study assessed the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of SAGE-324 in otherwise healthy patients with Essential…Prospective investigation of the frequency of tardive syndromes in outpatients attending two specialist psychiatry hospitals in Lagos, Nigeria
Objective: To determine the frequency and profile of TS in persons on antipsychotics attending tertiary psychiatry hospitals. Background: The term tardive syndrome (TS) encompasses the…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…
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