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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: vegezzi e. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
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.
Unclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy.
Doneddu PE, Akyil H, Manganelli F, Briani C, Cocito D, Benedetti L, Mazzeo A, Fazio R, Filosto M, Cosentino G, Di Stefano V, Antonini G, Marfia GA, Inghilleri M, Siciliano G, Clerici AM, Carpo M, Schenone A, Luigetti M, Lauria G, Matà S, Rosso T, Minicuci GM, Lucchetta M, Cavaletti G, Liberatore G, Spina E, Campagnolo M, Peci E, Germano F, Gentile L, Strano C, Cotti Piccinelli S, Vegezzi E, Leonardi L, Mataluni G, Ceccanti M, Schirinzi E, Romozzi M, Nobile-Orazio E; Italian CIDP Database study group. Doneddu PE, et al. Among authors: vegezzi e. J Neurol Neurosurg Psychiatry. 2023 Aug;94(8):614-621. doi: 10.1136/jnnp-2022-331011. Epub 2023 Apr 4. J Neurol Neurosurg Psychiatry. 2023. PMID: 37015771 Free article.
Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy.
Martín-Aguilar L, Lleixà C, Pascual-Goñi E, Caballero-Ávila M, Martínez-Martínez L, Díaz-Manera J, Rojas-García R, Cortés-Vicente E, Turon-Sans J, de Luna N, Suárez-Calvet X, Gallardo E, Rajabally Y, Scotton S, Jacobs BC, Baars A, Cortese A, Vegezzi E, Höftberger R, Zimprich F, Roesler C, Nobile-Orazio E, Liberatore G, Hiew FL, Martínez-Piñeiro A, Carvajal A, Piñar-Morales R, Usón-Martín M, Albertí O, López-Pérez MÁ, Márquez F, Pardo-Fernández J, Muñoz-Delgado L, Cabrera-Serrano M, Ortiz N, Bartolomé M, Duman Ö, Bril V, Segura-Chávez D, Pitarokoili K, Steen C, Illa I, Querol L. Martín-Aguilar L, et al. Among authors: vegezzi e. Neurol Neuroimmunol Neuroinflamm. 2021 Nov 2;9(1):e1098. doi: 10.1212/NXI.0000000000001098. Print 2022 Jan. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 34728497 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.
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.
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Cortese A, Dohrn MF, Curro R, Negri S, Lassuthova P, Pisciotta C, Tozza S, Al-Ajmi A, Feng C, Tomaselli PJ, Fernandez-Eulate G, Haddad S, Laurà M, Rossor AM, Vegezzi E, Facchini S, Sleigh JN, Rebelo A, Beijer D, Raposo J, Saporta M, Lauerova B, Pernice HF, Achenbach P, Schöne U, Alon T, Deschauer M, Cordts I, Obermaier CD, Winter N, Creigh PD, Sowden JE, Rehbein T, Magri S, Bertini A, Saveri P, Ripellino P, Huang J, Nadaj-Pakleza A, Ross A, Holt JKL, Brennan KM, Sukenik-Halevy R, Bizaoui V, Parman Y, Battaloglu E, Cakar A, Alrohaif H, Hammans S, Kumar KR, Kennerson ML, Kayserili H, Amado DA, Hahn K, Valentino P, Cavalcanti F, Gaetano C, Taroni F, Braathen GJ, Houlden H, Stojkovic T, Peric S, Bolino A, Previtali SC, Yi-Chung L, Başak AN, Hamed SA, Rojas-Garcia R, Claeys KG, Marques W, Sevilla T, Schlotter-Weigel B, Manganelli F, Zhang R, Herrmann DN, Scherer SS, Seeman P, Pareyson D, Reilly MM, Shy ME, Züchner S. Cortese A, et al. Among authors: vegezzi e. Brain. 2025 Oct 3;148(10):3737-3747. doi: 10.1093/brain/awaf021. Brain. 2025. PMID: 39938083 Free PMC article.
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Currò R, Salvalaggio A, Tozza S, Gemelli C, Dominik N, Galassi Deforie V, Magrinelli F, Castellani F, Vegezzi E, Businaro P, Callegari I, Pichiecchio A, Cosentino G, Alfonsi E, Marchioni E, Colnaghi S, Gana S, Valente EM, Tassorelli C, Efthymiou S, Facchini S, Carr A, Laura M, Rossor AM, Manji H, Lunn MP, Pegoraro E, Santoro L, Grandis M, Bellone E, Beauchamp NJ, Hadjivassiliou M, Kaski D, Bronstein AM, Houlden H, Reilly MM, Mandich P, Schenone A, Manganelli F, Briani C, Cortese A. Currò R, et al. Among authors: vegezzi e. Brain. 2021 Jun 22;144(5):1542-1550. doi: 10.1093/brain/awab072. Brain. 2021. PMID: 33969391 Free PMC article.
Long-Term Follow Up in Anti-Contactin-1 Autoimmune Nodopathy.
Caballero-Ávila M, Martín-Aguilar L, Pascual-Goñi E, Michael MR, Koel-Simmelink MJA, Höftberger R, Wanschitz J, Alonso-Jiménez A, Armangué T, Baars AE, Carbayo Á, Castek B, Collet-Vidiella R, De Winter J, Del Real MÁ, Delmont E, Diamanti L, Doneddu PE, Hiew FL, Gallardo E, Gonzalez A, Grinzinger S, Horga A, Iglseder S, Jacobs BC, Jauregui A, Killestein J, Pozza EL, Martínez-Martínez L, Nobile-Orazio E, Ortiz N, Pérez-Pérez H, Poppert KN, Ripellino P, Roche JC, Rodriguez de Rivera FJ, Rostasy K, Sparasci D, Tejada-Illa C, Teunissen CCE, Vegezzi E, Xuclà-Ferrarons T, Zach F, Wieske L, Eftimov F, Lleixà C, Querol L. Caballero-Ávila M, et al. Among authors: vegezzi e. Ann Neurol. 2025 Mar;97(3):529-541. doi: 10.1002/ana.27142. Epub 2024 Nov 27. Ann Neurol. 2025. PMID: 39601182
61 results