The effect of botulinum toxin A on pain associated with cervical dystonia (CD) in routine clinical practice
Objective: To evaluate the effect of abobotulinumtoxinA (aboBoNT-A) on pain associated with cervical dystonia (CD) in routine clinical practice. Background: Pain is considered as the…Phenotypic heterogeneity in Chinese dystonia patients with KMT2B variants
Objective: Our study is to summarize genotype-phenotype features with KMT2B-related dystonia in China. Background: KMT2B-related dystonia is a recently discovered childhood onset movement disorder. It…Fractal analysis of muscle ultrasound imaging to evaluate muscle health and spasticity
Objective: The aim was to assess the capabilities of using fractal analysis of neuromuscular ultrasound images to evaluate muscle health and spasticity. Background: Ultrasound (US)…Distinct maladaptive and compensatory wiring patterns in penetrant and non-penetrant dystonia mutation carriers
Objective: DYT1 and DYT6 are autosomal dominant mutations for primary dystonia with incomplete penetrance. We have found that expression levels for a distinct dystonia-related functional…Age at onset and Parkinson’s disease progression
Objective: Explore whether age at onset of Parkinson’s disease influences the rate of early disease progression. Background: In cross-sectional studies, older age at onset has…An Apparent Cluster of Parkinson’s Disease (PD) in a Golf Community
Objective: Objective: To describe an apparent cluster of PD in a golf community Background: Golf courses may use more pesticides/acre than are employed in agriculture. Certain…Movement disorders in a family carrying ATP7A variant
Objective: To report an early onset parkinsonism in a family carrying a pathogenic variant in the ATP7A gene. Background: ATP7A variants cause Menkes disease (MD), a…HD Constellation: A novel patient-centred approach to enriching clinical datasets by combining medical record chart review and Enroll-HD
Objective: HD Constellation aims to create a dataset providing a longitudinal view of the Huntington’s disease (HD) course, based on physician-provided medical records in the…Pridopidine for the Treatment of Early Huntington’s Disease
Objective: Assess the efficacy of pridopidine 45 mg bid for maintenance of total functional capacity (TFC) and motor function in early HD patients. Background: Pridopidine…The roles of Huntingtin Associated Protein 40 in Huntingtin functions and Huntington’s disease pathogenesis
Objective: Huntington’s disease (HD) is caused by an abnormal expansion of a glutamine tract (polyQ) in huntingtin (HTT), a large scaffold protein with numerous reported…
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