questionsmedicales.fr
Régions géographiques
Océanie
Australasie
Australasie : Questions médicales fréquentes
Termes MeSH sélectionnés :
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"position": 23,
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"position": 28,
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"text": "Voyager dans des zones endommagées par le virus et être enceinte augmentent le risque."
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GBA1 variants are among the most common genetic risk factors for Parkinson's disease (PD). GBA1 variants can be classified into three categories based on their role in Gaucher's disease (GD) or PD: se...
This review aims to generate and share a comprehensive database for GBA1 variants reported in PD to support future research and clinical trials....
We performed a literature search for all GBA1 variants that have been reported in PD. The data have been standardized and complemented with variant classification, odds ratio if available, and other d...
We found 371 GBA1 variants reported in PD: 22 mild, 84 severe, 3 risk variants, and 262 of unknown status. We created a browser containing up-to-date information on these variants (https://pdgenetics....
The classification and browser presented in this work should inform and support basic, translational, and clinical research on GBA1-PD. © 2023 International Parkinson and Movement Disorder Society....
Spatial transcriptomics (ST) enables a high-resolution interrogation of molecular characteristics within specific spatial contexts and tissue morphology. Despite its potential, visualization of ST dat...
We introduce ScopeViewer, a browser-based software designed to overcome these challenges. ScopeViewer offers the following functionalities: (1) It visualizes large image data and associated annotation...
ScopeViewer is available at: https://datacommons.swmed.edu/scopeviewer....
Phylogeographic analyses are able to exploit the location data associated with sampled molecular sequences to reconstruct the spatio-temporal dispersal history of a pathogen. Visualisation software is...
Collaborative manual image analysis by multiple experts in different locations is an essential workflow in biomedical science. However, sharing the images and writing down results by hand or merging r...
There is growing recognition that many people feel the need to regulate their use of the internet and other digital technologies to support their wellbeing. In this study, we used Mozilla Firefox brow...
Human epigenomic data has been generated by large consortia for thousands of cell types to be used as a reference map of normal and disease chromatin states. Since epigenetic data contains potentially...
Guided by the Framework for responsible sharing of genomic and health-related data from the Global Alliance for Genomics and Health (GA4GH), we have developed an approach and a tool to facilitate the ...
Online portal: https://computationalgenomics.ca/tools/epivar; EpiVar Browser source code: https://github.com/c3g/epivar-browser; bw-merge-window tool source code: https://github.com/c3g/bw-merge-windo...
Supplementary data are available at Bioinformatics online....
The complex relationship between attention and visual perception can be exemplified and investigated through the Attentional Blink. The attentional blink is characterised by impaired attention to the ...
Regulatory elements (enhancers) are major drivers of gene expression in mammals and harbor many genetic variants associated with human diseases. Here, we present an updated VISTA Enhancer Browser (htt...
Removal of predators and creation of early seral habitat have, in many systems, caused substantial population growth of herbivores. Hyperabundant herbivores, in turn, induce cascading ecosystem effect...