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Year Number of Results
1993 1
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Page 1
Neural Stem Cell Transplantation for Neurodegenerative Diseases.
De Gioia R, Biella F, Citterio G, Rizzo F, Abati E, Nizzardo M, Bresolin N, Comi GP, Corti S. De Gioia R, et al. Among authors: abati e. Int J Mol Sci. 2020 Apr 28;21(9):3103. doi: 10.3390/ijms21093103. Int J Mol Sci. 2020. PMID: 32354178 Free PMC article. Review.
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.
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. 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: abati e. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Author Correction: 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. Nat Commun. 2024 Oct 17;15(1):8955. doi: 10.1038/s41467-024-53151-2. Nat Commun. 2024. PMID: 39419991 Free PMC article. No abstract available.
Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A.
Rizzo F, Bono S, Ruepp MD, Salani S, Ottoboni L, Abati E, Melzi V, Cordiglieri C, Pagliarani S, De Gioia R, Anastasia A, Taiana M, Garbellini M, Lodato S, Kunderfranco P, Cazzato D, Cartelli D, Lonati C, Bresolin N, Comi G, Nizzardo M, Corti S. Rizzo F, et al. Among authors: abati e. Cell Mol Life Sci. 2023 Nov 25;80(12):373. doi: 10.1007/s00018-023-05018-w. Cell Mol Life Sci. 2023. PMID: 38007410 Free PMC article.
Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort.
Abati E, Gagliardi D, Manini A, Del Bo R, Ronchi D, Meneri M, Beretta F, Sarno A, Rizzo F, Monfrini E, Di Fonzo A, Pellecchia MT, Brusati A, Silani V, Comi GP, Ratti A, Verde F, Ticozzi N, Corti S. Abati E, et al. Brain Commun. 2024 Sep 23;6(5):fcae312. doi: 10.1093/braincomms/fcae312. eCollection 2024. Brain Commun. 2024. PMID: 39315308 Free PMC article.
53 results