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As seen in: Biomed Central (BMC)
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Articles by de Bot

Usability and feasibility assessment of the Huntington Support App (HD-eHelp study): a mixed-methods multi-study report - BMC Digital Health

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By van Lonkhuizen, Pearl J. C, van Duijn, de Bot
| link.springer.com
Abstract eHealth holds great promise for managing rare and complex neurodegenerative diseases, such as Huntington’s disease (HD). To address this potential, the Huntington Support App (HSA) was developed to provide reliable information on HD, news updates, and contact possibilities tailored primarily to the needs of HD gene expansion carriers (HDGECs) and their partners.
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Mapping the glial transcriptome in Huntington’s disease using snRNAseq: selective disruption of glial signatures across brain regions - Acta Neuropathologica Communications

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By Sunniva M. K, de Bot, van Roon-Mom, Willeke M. C
| Biomed Central (BMC)
Seurat v4 was used for the non-linear dimensional reduction and clustering of cell populations. The 35 first principal components were selected to construct a UMAP. A K-Nearest Neighbour (KNN) graph was built as basis for community detection using a Louvain algorithm [37]. Initial clustering was performed to resolve broad cell types, as denoted by expression of canonical markers detailed in the main text, using a KNN resolution of 0.25.
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Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction

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By van Roon-Mom, Willeke M. C, de Bot, van der Zwaan
| paperity.org
Orphanet Journal of Rare Diseases, Jul 2023 In biomedicine, machine learning (ML) has proven beneficial for the prognosis and diagnosis of different diseases, including cancer and neurodegenerative disorders. For rare diseases, however, the requirement for large datasets often prevents this approach. Huntington’s disease (HD) is a rare neurodegenerative disorder caused by a CAG repeat expansion in the coding region of the huntingtin gene.
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Quality of life, health-related quality of life, and associated factors in Huntington’s disease: a systematic review

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By van Lonkhuizen, Pearl J. C, van Duijn, de Bot
| paperity.org
Journal of Neurology, Jan 2023 This is a preview of a remote PDF: https://link.springer.com/content/pdf/10.1007/s00415-022-11551-8.pdf van Lonkhuizen, Pearl J. C., Frank, Wiebke, Heemskerk, Anne-Wil, van Duijn, Erik, de Bot, Susanne T., Mühlbäck, Alzbeta, Landwehrmeyer, G. Bernhard, Chavannes, Niels H., Meijer, Eline. , Journal of Neurology, 2023, pp. 1-22, DOI: 10.1007/s00415-022-11551-8
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