Mutant WDR45 leads to altered ferroptosis in β-propeller protein-associated neurodegeneration
Objective: To functionally characterize WDR45-mediated BPAN (Beta-propeller protein-associated neurodegeneration). Background: BPAN patients usually present with global developmental delay and autistic features in early childhood and…Blood biomarkers and their association with non-motor symptoms in early Parkinson’s Disease
Objective: To identify if baseline blood biomarkers are associated with non-motor symptoms in early PD. Background: Parkinson’s disease (PD) is a progressive neurodegenerative disorder with…The mitochondrial risk score and lifestyle factors are associated with age at onset in LRRK2 p.Gly2019Ser Parkinson’s disease.
Objective: To investigate the relationship between a mitochondrial risk score (MRS), lifestyle and age at onset (AAO) in LRRK2 G2019S Parkinson’s disease (PD). Background: PD…Magnetic Resonance Image-guided high-intensity focused ultrasound (MRIgFUS) subthalamotomy in Spanish Parkinson’s disease (PD) patients.
Objective: To describe our preliminary results of MRIgFUS subthalamotomy in two PD patients. Background: MRIgFUS thalamotomy has become the preferred surgical approach for refractory essential tremor…Visual system abnormalities and visual hallucinations in Parkinson’s disease
Objective: We aimed to identify clinical and imaging biomarkers of visual system injury associated with the presence of Visual hallucinations (VH) in Parkinson's disease (PD).…A low-cost system using a big-data deep-learning framework for assessing physical tele-rehabilitation: a proof-of-concept
Objective: The consolidation of tele-rehabilitation for the treatment of many diseases over the last decades is a result of its cost-effective results and its ability…Isolated ZIC4 antibody associated paraneoplastic cerebellar degeneration
Objective: Anti-ZIC4 antibodies have recently been associated with paraneoplastic cerebellar degeneration (PCD) and are usually associated with small cell carcinoma lung. However, most of the…Effectiveness of a home-based exercise program on gait characteristics in an individual with Parkinson’s disease over a one-year period: A case study
Objective: The purpose of this study was to explore the case history of an individual with Parkinson’s disease (PD) who used a home-based exercise programme…Exploring the impact of central cholinergic dysfunction on cognitive functioning in patients of Parkinson’s disease with and without REM sleep behavior disorder
Objective: This paper aims at establishes the presence of significantly higher cholinergic dysfunction in patients using short latency afferent inhibition. Background: Parkinson's disease (PD) is…DUtch PARkinson Cohort (DUPARC): Contrast Sensitivity and Retinal Changes in Early Parkinson’s Disease Patients
Objective: To identify and characterize the correlation between static contrast sensitivity (SCS), dynamic contrast sensitivity (DCS), and thickness of the internal plexiform layer (IPL) in…
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