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Page 1
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies.
Geroldi A, La Barbera A, Mammi A, Origone P, Gaudio A, Ponti C, Sanguineri F, Matà S, Sperti M, Carboni I, Bellone E, Gotta F, Gemelli C, Massucco S, Valeria G, Marinelli L, Grandis M, Bisogni G, Sabatelli M, Piscosquito G, Esposito G, Schenone A, Manganelli F, Mandich P, Tozza S, Luigetti M. Geroldi A, et al. Among authors: tozza s. J Peripher Nerv Syst. 2024 Dec;29(4):472-486. doi: 10.1111/jns.12657. Epub 2024 Sep 9. J Peripher Nerv Syst. 2024. PMID: 39251209 Free PMC article.
Correction to: Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.
Gentile L, Mazzeo A, Briani C, Casagrande S, De Luca M, Fabrizi GM, Gagliardi C, Gemelli C, Forcina F, Grandis M, Guglielmino V, Iabichella G, Leonardi L, Lozza A, Manganelli F, Mussinelli R, My F, Occhipinti G, Fenu S, Russo M, Romano A, Salvalaggio A, Tagliapietra M, Tozza S, Palladini G, Obici L, Luigetti M. Gentile L, et al. Among authors: tozza s. Neurol Sci. 2024 Aug 2. doi: 10.1007/s10072-024-07717-z. Online ahead of print. Neurol Sci. 2024. PMID: 39090357 No abstract available.
The spectrum of anti-GQ1B antibody syndrome: beyond Miller Fisher syndrome and Bickerstaff brainstem encephalitis.
Noioso CM, Bevilacqua L, Acerra GM, Valle PD, Serio M, Pecoraro A, Rienzo A, De Marca U, De Biasi G, Vinciguerra C, Piscosquito G, Toriello A, Tozza S, Barone P, Iovino A. Noioso CM, et al. Among authors: tozza s. Neurol Sci. 2024 Dec;45(12):5657-5669. doi: 10.1007/s10072-024-07686-3. Epub 2024 Jul 11. Neurol Sci. 2024. PMID: 38987510 Review.
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.
Bertini A, Gentile L, Cavallaro T, Tozza S, Saveri P, Russo M, Massucco S, Falzone YM, Bellone E, Taioli F, Geroldi A, Occhipinti G, Ferrarini M, Cavalca E, Crivellari L, Mandich P, Balistreri F, Magri S, Taroni F, Previtali SC, Schenone A, Grandis M, Manganelli F, Fabrizi GM, Mazzeo A, Pareyson D, Pisciotta C. Bertini A, et al. Among authors: tozza s. J Neurol Neurosurg Psychiatry. 2024 Dec 16;96(1):47-53. doi: 10.1136/jnnp-2024-333842. J Neurol Neurosurg Psychiatry. 2024. PMID: 38839277 Free article.
Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.
Gentile L, Mazzeo A, Briani C, Casagrande S, De Luca M, Fabrizi GM, Gagliardi C, Gemelli C, Forcina F, Grandis M, Guglielmino V, Iabichella G, Leonardi L, Lozza A, Manganelli F, Mussinelli R, My F, Occhipinti G, Fenu S, Russo M, Romano A, Salvalaggio A, Tagliapietra M, Tozza S, Palladini G, Obici L, Luigetti M. Gentile L, et al. Among authors: tozza s. Neurol Sci. 2024 Sep;45(9):4563-4571. doi: 10.1007/s10072-024-07494-9. Epub 2024 Apr 16. Neurol Sci. 2024. PMID: 38622453 Free PMC article.
Therapeutic choices and disease activity after 2 years of treatment with cladribine: An Italian multicenter study (CladStop).
Schiavetti I, Signori A, Albanese A, Frau J, Cocco E, Lorefice L, di Lemme S, Fantozzi R, Centonze D, Landi D, Marfia G, Signoriello E, Lus G, Zecca C, Gobbi C, Iodice R, Malimpensa L, Cordioli C, Ferraro D, Ruscica F, Pasquali L, Repice A, Immovilli P, Ferrò MT, Bonavita S, Di Filippo M, Abbadessa G, Govone F, Sormani MP; CladStop study group. Schiavetti I, et al. Eur J Neurol. 2024 Jun;31(6):e16250. doi: 10.1111/ene.16250. Epub 2024 Mar 28. Eur J Neurol. 2024. PMID: 38549186 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. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
85 results