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Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.
Satolli S, Rossi S, Vegezzi E, Pellerin D, Manca ML, Barghigiani M, Battisti C, Bilancieri G, Bruno G, Capacci E, Casali C, Ceravolo R, Cocozza S, Cotti Piccinelli S, Criscuolo C, Danzi MC, De Micco R, De Michele G, Dicaire MJ, Falcone GMI, Fancellu R, Ferchichi Y, Ferrari C, Filla A, Fini N, Govoni A, Lo Vecchio F, Malandrini A, Mignarri A, Musumeci O, Nesti C, Pappatà S, Pellecchia MT, Perna A, Petrucci A, Pomponi MG, Ravenni R, Ricca I, Rufa A, Tabolacci E, Tessa A, Tessitore A, Zuchner S, Silvestri G, Cortese A, Brais B, Santorelli FM. Satolli S, et al. Among authors: cortese a. J Neurol. 2024 Dec;271(12):7650-7651. doi: 10.1007/s00415-024-12629-1. J Neurol. 2024. PMID: 39499281 No abstract available.
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.
Satolli S, Rossi S, Vegezzi E, Pellerin D, Manca ML, Barghigiani M, Battisti C, Bilancieri G, Bruno G, Capacci E, Casali C, Ceravolo R, Cocozza S, Cotti Piccinelli S, Criscuolo C, Danzi MC, De Micco R, De Michele G, Dicaire MJ, Falcone GMI, Fancellu R, Ferchichi Y, Ferrari C, Filla A, Fini N, Govoni A, Lo Vecchio F, Malandrini A, Mignarri A, Musumeci O, Nesti C, Pappatà S, Pellecchia MT, Perna A, Petrucci A, Pomponi MG, Ravenni R, Ricca I, Rufa A, Tabolacci E, Tessa A, Tessitore A, Zuchner S, Silvestri G, Cortese A, Brais B, Santorelli FM. Satolli S, et al. Among authors: cortese a. J Neurol. 2024 Aug;271(8):5478-5488. doi: 10.1007/s00415-024-12506-x. Epub 2024 Jun 17. J Neurol. 2024. PMID: 38886208
Towards a standardised analysis of CSF in inflammatory neuropathies.
Vegezzi E, Gastaldi M, Cortese A. Vegezzi E, et al. Among authors: cortese a. J Neurol Neurosurg Psychiatry. 2021 Sep;92(9):916. doi: 10.1136/jnnp-2021-326418. Epub 2021 May 14. J Neurol Neurosurg Psychiatry. 2021. PMID: 33990384 No abstract available.
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.
Novis LE, Frezatti RS, Pellerin D, Tomaselli PJ, Alavi S, Della Coleta MV, Spitz M, Dicaire MJ, Iruzubieta P, Pedroso JL, Barsottini O, Cortese A, Danzi MC, França MC Jr, Brais B, Zuchner S, Houlden H, Raskin S, Marques W, Teive HA. Novis LE, et al. Among authors: cortese a. Neurol Genet. 2023 Aug 28;9(5):e200094. doi: 10.1212/NXG.0000000000200094. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37646005 Free PMC article.
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.
Vegezzi E, Ishiura H, Bragg DC, Pellerin D, Magrinelli F, Currò R, Facchini S, Tucci A, Hardy J, Sharma N, Danzi MC, Zuchner S, Brais B, Reilly MM, Tsuji S, Houlden H, Cortese A. Vegezzi E, et al. Among authors: cortese a. Lancet Neurol. 2024 Jul;23(7):725-739. doi: 10.1016/S1474-4422(24)00167-4. Lancet Neurol. 2024. PMID: 38876750 Review.
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: cortese a. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
Pellerin D, Wilke C, Traschütz A, Nagy S, Currò R, Dicaire MJ, Garcia-Moreno H, Anheim M, Wirth T, Faber J, Timmann D, Depienne C, Rujescu D, Gazulla J, Reilly MM, Giunti P, Brais B, Houlden H, Schöls L, Strupp M, Cortese A, Synofzik M. Pellerin D, et al. Among authors: cortese a. J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):175-179. doi: 10.1136/jnnp-2023-331490. J Neurol Neurosurg Psychiatry. 2024. PMID: 37399286 Free PMC article.
372 results