| Title: | Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease |
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| Authors: | ID Currò, Riccardo (Author)
ID Dominik, Natalia (Author)
ID Facchini, Stefano (Author)
ID Vegezzi, Elisa (Author)
ID Sullivan, Roisin (Author)
ID Galassi Deforie, Valentina (Author)
ID Fernández-Eulate, Gorka (Author)
ID Traschütz, Andreas (Author)
ID Rossi, Salvatore (Author)
ID Garibaldi, Matteo (Author)
ID Leonardis, Lea (Research coworker), et al. |
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| Files: |  PDF - Presentation file, download (816,60 KB)
MD5: EDF3AAC640A01C1BA66CCA51AB42110E
 URL - Source URL, visit https://academic.oup.com/brain/article/147/5/1887/7513227
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| Language: | English |
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| Typology: | 1.01 - Original Scientific Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| Keywords: | CANVAS, RFC1, ataxia, neuropathy, repeat expansions, southern blotting |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2024 |
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| Number of pages: | str. 1887-1898 |
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| Numbering: | Vol. 147, iss. 5 |
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| PID: | 20.500.12556/DiRROS-29751  |
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| UDC: | 616.8 |
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| ISSN on article: | 0006-8950 |
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| DOI: | 10.1093/brain/awad436 |
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| COBISS.SI-ID: | 195712515 |
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| Publication date in DiRROS: | 04.06.2026 |
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| Views: | 92 |
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| Downloads: | 68 |
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| Metadata: |    |
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