Classification and genotype-phenotype relationships of GBA1 variants and Parkinson’s disease: MDSGene Systematic Review
Objective: To provide a comprehensive and systematic literature review of variants in the glucocerebrosidase 1 gene (GBA1) linked to Parkinson’s disease (PD). Background: Approximately 10% of patients with PD…Bowel symptoms and management practices in Parkinson’s disease and related conditions: results from the PRIME-UK study.
Objective: To describe bowel symptoms and constipation management practices in a large, representative cross-sectional study of Parkinson’s and related disorders. Background: Bowel symptoms, particularly constipation,…The significance of myocardial infarction as a developmental factor in parkinsonism and vascular parkinsonism
Objective: to study the significance of myocardial infarction as a developmental factor in parkinsonism and vascular parkinsonism in Uzbekistyan Background: The prevalence of Parkinson's disease…Machine Learning Model for Prediction of acute orthostatic hypotension after levodopa administration
Objective: The aim of this study is to develop and validate a prediction model of AOHPL to facilitate physicians in identifying patients at higher probability…Narcolepsy type 1, supranuclear vertical gaze palsy, and agrypnia excitata in a patient with anti-Ma associated encephalitis.
Objective: To describe a case of a patient with narcolepsy type 1, supranuclear vertical gaze palsy, and agrypnia excitata, who presented with anti-Ma encephalitis. Background:…Hydrocephalus associated with Chiari-I malformation presenting with parkinsonism and dystonia
Objective: To provide a case description of dystonia-predominant parkinsonism due to underlying hydrocephalus associated with CIM in an adult. Background: Hydrocephalus is estimated to be…Atypical parkinsonism and psychiatric disorder in hereditary diffuse leukoencephalopathy with spheroids: a novel variant in the CSF1R gene
Objective: We describe the clinical, radiological and neuropathological phenotype of a patient carrying a novel variant in the CSF1R gene. Background: Hereditary diffuse leukoencephalopathy with…Normative values for the Instrumented Timed Up and Go test in Parkinsonian populations
Objective: This study aims to define normative values for the Instrumented Timed Up and Go test using wearable inertial sensors in people affected by Parkinson’s…PD-PRIDE: Healthcare experiences of people identifying as LGBTQ+ with Parkinson disease: A qualitative study preliminary analysis
Objective: To identify the lived experience and perspectives on healthcare access and equity of people with Parkinson disease (PwP) identifying as lesbian, gay, bisexual, transgender,…Diagnostic Utility of Blood α-Synuclein in Parkinson’s Disease: A Systematic Review and Meta-analysis
Objective: The aims were to (1) explore the concentration differences of α-syn species in different blood components between PD and healthy controls (HC), and between…
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