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Page 1
Human Herpesvirus 6 Encephalitis in Immunocompetent and Immunocompromised Hosts.
Berzero G, Campanini G, Vegezzi E, Paoletti M, Pichiecchio A, Simoncelli AM, Colombo AA, Bernasconi P, Borsani O, Di Matteo A, Rossi V, Foiadelli T, Savasta S, Compagno F, Zecca M, Baldanti F, Marchioni E. Berzero G, et al. Among authors: vegezzi e. Neurol Neuroimmunol Neuroinflamm. 2021 Jan 12;8(2):e942. doi: 10.1212/NXI.0000000000000942. Print 2021 Mar. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 33587722 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: vegezzi e. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
Anti-pan-neurofascin nodopathy: cause of fulminant neuropathy.
Acerra GM, Bevilacqua L, Noioso CM, Valle PD, Serio M, Vinciguerra C, Piscosquito G, Toriello A, Vegezzi E, Gastaldi M, Barone P, Iovino A. Acerra GM, et al. Among authors: vegezzi e. Neurol Sci. 2024 Apr;45(4):1755-1759. doi: 10.1007/s10072-023-07297-4. Epub 2024 Jan 8. Neurol Sci. 2024. PMID: 38190082
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: vegezzi e. Biomolecules. 2023 Oct 19;13(10):1546. doi: 10.3390/biom13101546. Biomolecules. 2023. PMID: 37892228 Free PMC article.
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Among authors: vegezzi e. Nat Commun. 2024 Jul 27;15(1):6327. doi: 10.1038/s41467-024-49950-2. Nat Commun. 2024. PMID: 39068203 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: vegezzi e. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Impact of 2021 European Academy of Neurology/Peripheral Nerve Society diagnostic criteria on diagnosis and therapy of chronic inflammatory demyelinating polyradiculoneuropathy variants.
De Lorenzo A, Liberatore G, Doneddu PE, Manganelli F, Cocito D, Briani C, Fazio R, Mazzeo A, Schenone A, Di Stefano V, Cosentino G, Marfia GA, Benedetti L, Carpo M, Filosto M, Antonini G, Clerici AM, Luigetti M, Matà S, Rosso T, Lucchetta M, Siciliano G, Lauria Pinter G, Cavaletti G, Inghilleri M, Cantisani T, Notturno F, Ricciardi D, Habetswallner F, Spina E, Peci E, Salvalaggio A, Falzone Y, Strano C, Gentile L, Vegezzi E, Mataluni G, Cotti Piccinelli S, Leonardi L, Romano A, Nobile-Orazio E; Italian CIDP Database Study Group. De Lorenzo A, et al. Among authors: vegezzi e. Eur J Neurol. 2024 Apr;31(4):e16190. doi: 10.1111/ene.16190. Epub 2024 Jan 2. Eur J Neurol. 2024. PMID: 38165011 Free PMC article.
55 results