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Page 1
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: abati e. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.
Mauri E, Abati E, Musumeci O, Rodolico C, D'Angelo MG, Mirabella M, Lucchini M, Bello L, Pegoraro E, Maggi L, Manneschi L, Gemelli C, Grandis M, Zuppa A, Massucco S, Benedetti L, Caponnetto C, Schenone A, Prelle A, Previtali SC, Scarlato M, D'Amico A, Bertini E, Pennisi EM, De Giglio L, Pane M, Mercuri E, Mongini T, Ricci F, Berardinelli A, Astrea G, Lenzi S, Battini R, Ricci G, Torri F, Siciliano G, Santorelli FM, Ariatti A, Filosto M, Passamano L, Politano L, Scutifero M, Tonin P, Fossati B, Panicucci C, Bruno C, Ravaglia S, Monforte M, Tasca G, Ricci E, Petrucci A, Santoro L, Ruggiero L, Barp A, Albamonte E, Sansone V, Gagliardi D, Costamagna G, Govoni A, Magri F, Brusa R, Velardo D, Meneri M, Sciacco M, Corti S, Bresolin N, Moroni I, Messina S, Di Muzio A, Nigro V, Liguori R, Antonini G, Toscano A, Minetti C, Comi GP; Italian Association of Myology. Mauri E, et al. Among authors: abati e. Acta Myol. 2020 Jun 1;39(2):57-66. doi: 10.36185/2532-1900-008. eCollection 2020 Jun. Acta Myol. 2020. PMID: 32904925 Free PMC article.
Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.
Abati E, Magri S, Meneri M, Manenti G, Velardo D, Balistreri F, Pisciotta C, Saveri P, Bresolin N, Comi GP, Ronchi D, Pareyson D, Taroni F, Corti S. Abati E, et al. Ann Clin Transl Neurol. 2021 May;8(5):1158-1164. doi: 10.1002/acn3.51364. Epub 2021 May 4. Ann Clin Transl Neurol. 2021. PMID: 33943041 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. Among authors: abati e. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 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: abati e. Biomolecules. 2023 Oct 19;13(10):1546. doi: 10.3390/biom13101546. Biomolecules. 2023. PMID: 37892228 Free PMC article.
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Quartesan I, Vegezzi E, Currò R, Heslegrave A, Pisciotta C, Iruzubieta P, Salvalaggio A, Fernández-Eulate G, Dominik N, Rugginini B, Manini A, Abati E, Facchini S, Manso K, Albajar I, Laban R, Rossor AM, Pichiecchio A, Cosentino G, Saveri P, Salsano E, Andreetta F, Valente EM, Zetterberg H, Giunti P, Stojkovic T, Briani C, López de Munain A, Pareyson D, Reilly MM, Houlden H, Tassorelli C, Cortese A. Quartesan I, et al. Among authors: abati e. Mov Disord. 2024 Jan;39(1):209-214. doi: 10.1002/mds.29680. Epub 2023 Dec 6. Mov Disord. 2024. PMID: 38054570 Free PMC article.
43 results