A novel truncating variant in UBAP1 gene causing hereditary spastic paraplegia type 80
Objective: To describe a novel truncating variant in UBAP1 gene in a first Malay population, and expand the genotype and phenotype. Background: Hereditary Spastic paraplegia…A retrospective comparison of functional and quality of life outcomes in DBS patients implanted via awake or asleep surgery: the Rush University Medical Center experience
Objective: We retrospectively compared quality of life and functional status metrics to assess differences among patients who underwent implantation of Deep Brain Stimulation (DBS) for…Initial triggering in tibial group and subsequent slow spread of myoclonus from brain stem to eye-balls in Subacute Sclerosing Pan Encephalitis
Objective: To report spread of myoclonus in Subacute Sclerosing Pan Encephalitis (SSPE) Background: SSPE is a slowly progressive encephalitis caused by mutant measles virus with…Metabolic connectivity assessed by dynamic FDG-fPET acquisition in Parkinson’s disease: a multimodal fPET and fMRI study
Objective: To examine the spatial convergence of hemodynamic and metabolic network characteristics based on dynamic [18F]FDG-fPET acquisition Background: While fMRI reveals within-subject hemodynamics, [18F]FDG-PET traditionally…Identifying prodromal NMS in a population-based recruitment strategy: Kassel data of Healthy Brain Ageing
Objective: To identify subjects with NMS for recruitment of a cohort at risk for prodromal PD Background: Neurodegeneration in PD starts years before the development…Localisation of distinct brain networks in premanifest and manifest Huntington’s disease
Objective: To map the brain networks underlying Huntington’s Disease (HD), testing whether there are distinct networks involved in premanifest and manifest disease stages. Background: HD…Clinical and genetic characteristics of a cohort of 20 patients with confirmed biallelic pathogenic SPG7 mutations from the North West of England
Objective: To identify the prevalence and phenotype of patients with biallelic pathogenic SPG7 mutations Background: Spastic Paraplegia Type 7 (SPG7) is an autosomal recessive disorder…restless leg syndrome in parkinson’s disease patients: prevalence and correlates with sleep parameters
Objective: The aim of the present study is to explore the clinical significance and frequency of restless leg syndrome (RLS) in a sample of patients…Non-tremor motor dysfunction in Parkinson’s disease is associated with decreased [18F]FMPEP-d2 binding
Objective: To explore the relationship between cannabinoid receptor type 1 (CB1) availability and motor symptoms in Parkinson’s disease (PD) with [18F]FMPEP-d2 positron emission tomography (PET).…Longitudinal assessment of evolution and plasma biomarkers for depression and anxiety in Parkinson’s disease
Objective: We aimed to investigatethe evolution of depression and anxietyin a large Parkinson's disease (PD) cohort and explore the related plasma biomarkers. Background: Depression and anxietyare common non-motor…
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