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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436.
Brain. 2024.
PMID: 38193360
Free PMC article.
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Quartesan I, Vegezzi E, Currò R, Heslegrave A, Pisciotta C, Iruzubieta P, Salvalaggio A, Fernández-Eulate G, Dominik N, Rugginini B, Manini A, Abati E, Facchini S, Manso K, Albajar I, Laban R, Rossor AM, Pichiecchio A, Cosentino G, Saveri P, Salsano E, Andreetta F, Valente EM, Zetterberg H, Giunti P, Stojkovic T, Briani C, López de Munain A, Pareyson D, Reilly MM, Houlden H, Tassorelli C, Cortese A.
Quartesan I, et al. Among authors: rugginini b.
Mov Disord. 2024 Jan;39(1):209-214. doi: 10.1002/mds.29680. Epub 2023 Dec 6.
Mov Disord. 2024.
PMID: 38054570
Free PMC article.
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Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions.
Facchini S, Dominik N, Manini A, Efthymiou S, Currò R, Rugginini B, Vegezzi E, Quartesan I, Perrone B, Kutty SK, Galassi Deforie V, Schnekenberg RP, Abati E, Pichiecchio A, Valente EM, Tassorelli C, Reilly MM, Houlden H, Bugiardini E, Cortese A.
Facchini S, et al. Among authors: rugginini b.
Biomolecules. 2023 Oct 19;13(10):1546. doi: 10.3390/biom13101546.
Biomolecules. 2023.
PMID: 37892228
Free PMC article.
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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A.
Dominik N, et al.
Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240.
Brain. 2023.
PMID: 37450567
Free PMC article.
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