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

Year Number of Results
1974 1
1995 1
1996 1
1999 3
2000 4
2001 5
2002 7
2003 6
2005 2
2007 1
2008 1
2009 1
2011 4
2012 4
2013 8
2014 5
2015 2
2016 3
2017 2
2018 4
2019 2
2020 6
2021 8
2022 15
2023 17
2024 4

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108 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: facchini s. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
Chemotherapy-Induced Hepatotoxicity in HIV Patients.
Bressan S, Pierantoni A, Sharifi S, Facchini S, Quagliarello V, Berretta M, Montopoli M. Bressan S, et al. Among authors: facchini s. Cells. 2021 Oct 25;10(11):2871. doi: 10.3390/cells10112871. Cells. 2021. PMID: 34831094 Free PMC article. Review.
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. Biomolecules. 2023 Oct 19;13(10):1546. doi: 10.3390/biom13101546. Biomolecules. 2023. PMID: 37892228 Free PMC article.
Advanced/metastatic bladder cancer: current status and future directions.
Facchini G, Cavaliere C, Romis L, Mordente S, Facchini S, Iovane G, Capasso M, D'Errico D, Liguori C, Formato R, Cicala S, Andreozzi F, Di Lauro G, Imbimbo C, Vanni M, D'Aniello C. Facchini G, et al. Among authors: facchini s. Eur Rev Med Pharmacol Sci. 2020 Nov;24(22):11536-11552. doi: 10.26355/eurrev_202011_23795. Eur Rev Med Pharmacol Sci. 2020. PMID: 33275220 Free article. Review.
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Currò R, Salvalaggio A, Tozza S, Gemelli C, Dominik N, Galassi Deforie V, Magrinelli F, Castellani F, Vegezzi E, Businaro P, Callegari I, Pichiecchio A, Cosentino G, Alfonsi E, Marchioni E, Colnaghi S, Gana S, Valente EM, Tassorelli C, Efthymiou S, Facchini S, Carr A, Laura M, Rossor AM, Manji H, Lunn MP, Pegoraro E, Santoro L, Grandis M, Bellone E, Beauchamp NJ, Hadjivassiliou M, Kaski D, Bronstein AM, Houlden H, Reilly MM, Mandich P, Schenone A, Manganelli F, Briani C, Cortese A. Currò R, et al. Among authors: facchini s. Brain. 2021 Jun 22;144(5):1542-1550. doi: 10.1093/brain/awab072. Brain. 2021. PMID: 33969391 Free PMC article.
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
Efthymiou S, Lemmers RJLF, Vishnu VY, Dominik N, Perrone B, Facchini S, Vegezzi E, Ravaglia S, Wilson L, van der Vliet PJ, Mishra R, Reyaz A, Ahmad T, Bhatia R, Polke JM, Srivastava MP, Cortese A, Houlden H, van der Maarel SM, Hanna MG, Bugiardini E. Efthymiou S, et al. Among authors: facchini s. Biomolecules. 2023 Oct 24;13(11):1567. doi: 10.3390/biom13111567. Biomolecules. 2023. PMID: 38002249 Free PMC article.
Circulating Vitamin D Level and Its Impact on Mortality and Recurrence in Stage III Colorectal Cancer Patients: A Systematic Review and Meta-Analysis.
Ottaiano A, Facchini S, Santorsola M, Nasti G, Facchini G, Montella L, Maurea N, Cascella M, Iervolino D, Facchini BA, Montopoli M, Consolo P, Quagliariello V, Rinaldi L, Berretta M. Ottaiano A, et al. Among authors: facchini s. Cancers (Basel). 2023 May 31;15(11):3012. doi: 10.3390/cancers15113012. Cancers (Basel). 2023. PMID: 37296974 Free PMC article. Review.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Among authors: facchini s. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
108 results