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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 2
2005 1
2007 1
2009 6
2010 8
2011 1
2012 2
2014 1
2017 1
2018 1
2019 2
2020 8
2021 6
2022 4
2023 11
2024 6

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PubMed (GeneRIF) for id: 5981

55 results

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Page 1
RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.
Wada T, Doi H, Okubo M, Tada M, Ueda N, Suzuki H, Tominaga W, Koike H, Komiya H, Kubota S, Hashiguchi S, Nakamura H, Takahashi K, Kunii M, Tanaka K, Miyaji Y, Higashiyama Y, Koshimizu E, Miyatake S, Katsuno M, Fujii S, Takahashi H, Matsumoto N, Takeuchi H, Tanaka F. Wada T, et al. Ann Neurol. 2024 Mar;95(3):607-613. doi: 10.1002/ana.26848. Epub 2023 Dec 27. Ann Neurol. 2024. PMID: 38062616
CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy.
Hirano M, Kuwahara M, Yamagishi Y, Samukawa M, Fujii K, Yamashita S, Ando M, Oka N, Nagano M, Matsui T, Takeuchi T, Saigoh K, Kusunoki S, Takashima H, Nagai Y. Hirano M, et al. Sci Rep. 2023 Oct 18;13(1):17801. doi: 10.1038/s41598-023-45011-8. Sci Rep. 2023. PMID: 37853169 Free PMC article.
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.
Can CANVAS due to RFC1 biallelic expansions present with pure ataxia?
Hadjivassiliou M, Currò R, Beauchamp N, Dominik N, Grunewald RA, Shanmugarajah P, Zis P, Hoggard N, Cortese A. Hadjivassiliou M, et al. J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):171-174. doi: 10.1136/jnnp-2023-331381. J Neurol Neurosurg Psychiatry. 2024. PMID: 37414537 Free PMC article.
55 results