Clinically interpretable severity estimation of facial expression impairment in Parkinson’s disease
Objective: To develop a scalable and interpretable computer-vision based algorithm to measure the severity of facial impairment in Parkinson’s disease. Background: Neurological disorders frequently manifest…Apomorphine Sublingual Film for OFF Episodes in Parkinson’s Disease: Incremental Motor Improvement Observed with Increasing Doses
Objective: Evaluate magnitude of motor improvement with increasing doses of apomorphine sublingual film (SL-APO) in patients with Parkinson’s disease (PD) and OFF episodes. Background: Identifying…Deep brain stimulation of the subthalamic nucleus under general vs local anesthesia
Objective: The aim of the study was to compare outcomes of the deep brain stimulation (DBS) of the subthalamic nucleus (STN) in patients with Parkinson’s…Clinical and genetic characterization of two Portuguese families with spinocerebellar ataxia 48
Objective: Genetic and phenotypic characterization of six patients from two families, with pathogenic variants on the STUB1 gene. Background: Biallelic pathogenic variants on the STUB1…WHODAS 2.0 to access functional disabilities of Wilson disease’s patients
Objective: We aim to analyze the disability status of WD patients by using the World Health Organization Disability Assessment Schedule 2.0 scale (WHODAS 2.0) and…Relationship between brain bioelectrical activity during REM/NREM sleep, grey matter changes and visual disorders in patients with RBD in Parkinson’s disease
Objective: To investigate the brain bioelectric activity during REM/NREM sleep and determine the relationship with visual impairment and structural brain alteration in non-demented PD patients…Gender-related sexual dysfunction in Parkinson disease: Clinical data of a hospital cohort in Tunisia
Objective: Describe the nature of sexual dysfunctions (SD) associated to Parkinson disease (PD) in Tunisian patients. Identify gender related difference of SD in PD. Background:…Categorizing non-focal dystonia, an un-biased data-driven approach
Objective: To apply data-driven methods to characterize dystonic patterns across body regions in non-focal dystonia. Background: Current categorization of body distributions affected by dystonia lacks…Does autosomal recessive Parkinson’s Disease behave as “Brain-first” subtype?
Objective: The aim of this study is to explore whether monogenic PD (due to parkin or DJ-1 homozygous mutations) can be subtyped as "brain-first" by…Fragile X Associated Tremor and Ataxia Syndrome (FXTAS) presents with widespread reactive gliosis and white-matter specific astrocyte degeneration
Objective: We will characterize neuropathological alterations of astrocytes in different regions of the FXTAS brain. Background: FXTAS is a progressive neurodegenerative disorder that occurs in…
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