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2021 1
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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: perini c. 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: perini c. Neurology. 2023 Jan 31;100(5):e543-e554. doi: 10.1212/WNL.0000000000201486. Epub 2022 Oct 26. Neurology. 2023. PMID: 36289003 Free PMC article.
Novel pyrazolo[3,4-d]pyrimidines as dual Src/Bcr-Abl kinase inhibitors: Synthesis and biological evaluation for chronic myeloid leukemia treatment.
Di Maria S, Picarazzi F, Mori M, Cianciusi A, Carbone A, Crespan E, Perini C, Sabetta S, Deplano S, Poggialini F, Molinari A, Aronne R, Maccioni E, Maga G, Angelucci A, Schenone S, Musumeci F, Dreassi E. Di Maria S, et al. Among authors: perini c. Bioorg Chem. 2022 Nov;128:106071. doi: 10.1016/j.bioorg.2022.106071. Epub 2022 Aug 1. Bioorg Chem. 2022. PMID: 35932498
Biological Evaluation and In Vitro Characterization of ADME Profile of In-House Pyrazolo[3,4-d]pyrimidines as Dual Tyrosine Kinase Inhibitors Active against Glioblastoma Multiforme.
Poggialini F, Vagaggini C, Brai A, Pasqualini C, Crespan E, Maga G, Perini C, Cabella N, Botta L, Musumeci F, Frosini M, Schenone S, Dreassi E. Poggialini F, et al. Among authors: perini c. Pharmaceutics. 2023 Jan 30;15(2):453. doi: 10.3390/pharmaceutics15020453. Pharmaceutics. 2023. PMID: 36839775 Free PMC article.