Decreased serum alpha-synuclein in patients with Restless Legs Syndrome and association with SNCA-Rep1 polymorphism
Objective: To investigate whether α -synuclein levels are altered in serum and saliva in patients with RLS and explore influence of the SNCA-Rep1 microsatellite repeat…Impaired lysosomal catabolism of alpha-synuclein in parkinsonian LRRK2(R1441G) mutant mouse embryonic fibroblasts
Objective: Using a unique fluorescence-based flow cytometry assay on LRRK2(R1441G) mutant mouse embryonic fibroblasts (MEFs) to elucidate whether pathogenic LRRK2 mutation affects cellular lysosomal degradation…Alpha-synuclein seeding activity in blood samples from synucleinopathy patients
Objective: Utilize a cell-based assay to determine whether a-syn seeding activity can be amplified and detected from blood components from patients with Parkinson’s disease (PD)…Appendectomy and risk of Parkinson’s disease: A meta-analysis using real-world evidence
Objective: This meta-analysis is aimed to explore the association between appendectomy and Parkinson’s disease (PD) risk. Background: Parkinson’s disease is recently recognized as a systematic…Autonomic features in E46K-SNCA carriers
Objective: To evaluate structural and functional integrity of small autonomic nerve fibers and phosphorylated alpha-synuclein (p-syn) deposition in the skin of E46K-SNCA carriers as compared…SNCA G51D missense mutation causing juvenile onset Parkinson’s disease
Objective: To report the clinical and genetic features in a Parkinson’s patient with the SNCA G51D missense mutation. Background: α-synuclein (SNCA) gene mutations are recognized…High Content Screening of synucleinopathy in primary cortical neurons : dissecting out the interplay between the basic synuclein pools
Objective: To set up a robust (see ref 1 for definition) 96-well High Content Screening assay of synucleinopathy in primary cultures of cortical neurons. Background:…Utilising Magnetic Resonance Spectroscopy to investigate synucleinopathies
Objective: To study the neuronal integrity of the Anterior (ACC) and Posterior (PCC) Cingulate Cortices with Proton Magnetic Resonance Spectroscopy (H-MRS) across healthy controls (n=17),…Ambroxol treatment of primary macrophages derived from patients with GBA-associated Parkinson’s disease
Objective: The aim was to evaluate the effectiveness of the restoration of GCase activity in macrophages from GBA-PD patients using pharmacological chaperone ambroxol. Background: Mutations…Prevalence of orthostatic hypotension and postprandial hypotension in neurodegenerative diseases with synucleinopathy: a systematic review and meta-analysis
Objective: This study aimed to evaluate the prevalence of orthostatic hypotension (OH) and postprandial hypotension (PPH) in patients with Parkinson's disease (PD), multiple system atrophy…
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