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Assessment of diagnostic criteria for multifocal motor neuropathy in patients included in the Italian database.
Doneddu PE, Gentile L, Cocito D, Fazio R, Luigetti M, Briani C, Filosto M, Siciliano G, Benedetti L, Antonini G, Matà S, Marfia GA, Inghilleri M, Manganelli F, Cosentino G, Brighina F, Carpo M, Carta F, Mazzeo A, Peci E, Strano C, Romano A, Campagnolo M, Cotti-Piccinelli S, Viola DV, Germano F, Leonardi L, Sperti M, Mataluni G, Ceccanti M, Spina E, Vegezzi E, Di Stefano V, Nobile-Orazio E. Doneddu PE, et al. Among authors: vegezzi e. Eur J Neurol. 2024 May;31(5):e16248. doi: 10.1111/ene.16248. Epub 2024 Feb 20. Eur J Neurol. 2024. PMID: 38376074
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.
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
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
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: vegezzi 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.
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: vegezzi e. Biomolecules. 2023 Oct 24;13(11):1567. doi: 10.3390/biom13111567. Biomolecules. 2023. PMID: 38002249 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: vegezzi e. Biomolecules. 2023 Oct 19;13(10):1546. doi: 10.3390/biom13101546. Biomolecules. 2023. PMID: 37892228 Free PMC article.
44 results