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

Year Number of Results
2005 6
2006 3
2007 5
2008 8
2009 3
2010 5
2011 6
2012 3
2013 9
2014 5
2015 5
2016 8
2017 6
2018 4
2019 3
2020 1
2021 5
2022 4
2023 4
2024 0

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85 results

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Page 1
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. Among authors: crespan e. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Ronco R, Perini C, Currò R, Dominik N, Facchini S, Gennari A, Simone R, Stuart S, Nagy S, Vegezzi E, Quartesan I, El-Saddig A, Lavin T, Tucci A, Szymura A, Novis De Farias LE, Gary A, Delfeld M, Kandikatla P, Niu N, Tawde S, Shaw J, Polke J, Reilly MM, Wood NW, Crespan E, Gomez C, Chen JYH, Schmahmann JD, Gosal D, Houlden H, Das S, Cortese A. Ronco R, et al. Among authors: crespan e. Neurology. 2023 Jan 31;100(5):e543-e554. doi: 10.1212/WNL.0000000000201486. Epub 2022 Oct 26. Neurology. 2023. PMID: 36289003 Free PMC article.
DNA Polymerases λ and β: The Double-Edged Swords of DNA Repair.
Mentegari E, Kissova M, Bavagnoli L, Maga G, Crespan E. Mentegari E, et al. Among authors: crespan e. Genes (Basel). 2016 Aug 31;7(9):57. doi: 10.3390/genes7090057. Genes (Basel). 2016. PMID: 27589807 Free PMC article. Review.
The power of enzyme kinetics in the drug development process.
Samuele A, Crespan E, Garbelli A, Bavagnoli L, Maga G. Samuele A, et al. Among authors: crespan e. Curr Pharm Biotechnol. 2013;14(5):551-60. doi: 10.2174/138920101405131111105023. Curr Pharm Biotechnol. 2013. PMID: 22429137 Review.
85 results