Evaluation of stigmatization and quality of life before and after botulinum toxin treatment in hemifacial spasm
Objective: Hemifacial spasm (HFS) is a chronic disease that is characterized by involuntary tonic and clonic contractions of the muscles innervated by the ipsilateral facial…A strategy to classify Parkinson’s disease patients with dyskinesia: The analysis of center of pressure with impact of cognitive loading
Objective: To propose a strategy to classify Parkinson's disease (PD) with/without dyskinesia by analyzing center of pressure (CoP) with impact of cognitive loading. Background: Cognitive…Reliability and responsiveness of in-clinic and at-home app-based bradykinesia assessment
Objective: To evaluate reliability and responsiveness of an objective app-based bradykinesia assessment tool in the clinic and at home and to compare it to clinical…Computational analysis of expression profiling data in a neuronal model of X-linked dystonia-parkinsonism
Objective: To identify differentially expressed genes and enriched gene sets in a neuronal model of X-linked dystonia-parkinsonism (XDP, DYT3). Background: The putative dysfunctional gene in…Clinical and genetic analyses in a cohort of the Taiwanese patients with apparently sporadic pure spastic paraplegia
Objective: To systemically screen some common spastic paraplegia genes (SPG) in the Taiwanese patients with apparently sporadic pure spastic paraplegia. Background: Hereditary spastic paraplegias (HSP)…No RAB39B gene mutations in Chinese familial Parkinson’s disease
Objective: To validate the susceptibility to familial PD patients caused by RAB39B in Chinese Han population. Background: Recently, RAB39B mutations c.503C>A and c.574G>A have been…LRRK2 G2019S mutation carrier with an unusual phenotype: Progressive logopenic aphasia
Objective: To report the case of a patient carrying the G2019S mutation of the LRRK2 gene presenting with progressive logopenic aphasia and not manifesting PD…Next-generation profiling to identify the molecular etiology of Parkinson’s disease dementia
Objective: To identify novel gene regulatory events associated with Parkinson's disease with dementia (PD-D). Background: PD-D is associated with the spread of degenerative pathology to…Longitudinal evaluation of motor and non motor symptoms among LRRK2 risk variants
Objective: To evaluate the clinical characteristics and progression of Parkinson's disease (PD) in patients with Asian-related LRRK2 variants, G2385R, R1628P and S1647T. Methods: A total…Human, fly and cellular models of riboflavin transporter neuronopathy
Objective: A) To find the spectrum of defects in riboflavin transporter genes; B) To ascertain the in-vitro cellular effects of SLC52A2 mutations and riboflavin on…
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