C9orf72 repeat length might influence clinical sub-phenotypes in dementia patients

C9orf72 repeat length might influence clinical sub-phenotypes in dementia patients

Background: C9orf72 repeat expansions have been observed in a wide variety of neurodegenerative disorders. The cut-off between normal and pathogenic alleles is not well established as repeat sizing methods are often semi-quantitative. However, intermediate alleles might influence disease prevalence...

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Những tác giả chính: Theresa König, Raphael Wurm, Tandis Parvizi, Sara Silvaieh, Christoph Hotzy, Hakan Cetin, Sigrid Klotz, Ellen Gelpi, Christian Bancher, Thomas Benke, Peter Dal-Bianco, Michaela Defrancesco, Peter Fischer, Josef Marksteiner, Hedwig Sutterlüty, Gerhard Ransmayr, Reinhold Schmidt, Alexander Zimprich, Elisabeth Stögmann
Định dạng: Bài viết
Ngôn ngữ:English
Được phát hành: Elsevier 2022-12-01
Loạt:Neurobiology of Disease
Những chủ đề:
C9orf72 hexanucleotide repeat expansion
Intermediate repeats
Neurodegenerative diseases
Alzheimer dementia (AD)
Frontotemporal dementia (FTD)
Early onset dementia
Truy cập trực tuyến:http://www.sciencedirect.com/science/article/pii/S0969996122003199

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http://www.sciencedirect.com/science/article/pii/S0969996122003199

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