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Year Number of Results
2020 1
2021 5
2022 15
2023 9
2024 2

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27 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: manini a. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
Phenotypic correlates of serum neurofilament light chain levels in amyotrophic lateral sclerosis.
Verde F, Milone I, Colombo E, Maranzano A, Solca F, Torre S, Doretti A, Gentile F, Manini A, Bonetti R, Peverelli S, Messina S, Maderna L, Morelli C, Poletti B, Ratti A, Silani V, Ticozzi N. Verde F, et al. Among authors: manini a. Front Aging Neurosci. 2023 Mar 15;15:1132808. doi: 10.3389/fnagi.2023.1132808. eCollection 2023. Front Aging Neurosci. 2023. PMID: 37009451 Free PMC article.
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: manini a. Biomolecules. 2023 Oct 19;13(10):1546. doi: 10.3390/biom13101546. Biomolecules. 2023. PMID: 37892228 Free PMC article.
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: manini a. Brain. 2024 Jan 9:awad436. doi: 10.1093/brain/awad436. Online ahead of print. Brain. 2024. PMID: 38193360
Serum levels of glial fibrillary acidic protein in patients with amyotrophic lateral sclerosis.
Verde F, Milone I, Maranzano A, Colombo E, Torre S, Solca F, Doretti A, Gentile F, Manini A, Bonetti R, Peverelli S, Messina S, Maderna L, Morelli C, Poletti B, Ratti A, Silani V, Ticozzi N. Verde F, et al. Among authors: manini a. Ann Clin Transl Neurol. 2023 Jan;10(1):118-129. doi: 10.1002/acn3.51708. Epub 2022 Dec 16. Ann Clin Transl Neurol. 2023. PMID: 36525477 Free PMC article.
27 results