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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: miller j. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Six-Month Outcomes in the Long-Term Outcomes After the Multisystem Inflammatory Syndrome in Children Study.
Truong DT, Trachtenberg FL, Hu C, Pearson GD, Friedman K, Sabati AA, Dionne A, Oster ME, Anderson BR, Block J, Bradford TT, Campbell MJ, D'Addese L, Dummer KB, Elias MD, Forsha D, Garuba OD, Hasbani K, Hayes K, Hebson C, Jone PN, Krishnan A, Lang S, McCrindle BW, McHugh KE, Mitchell EC, Morrison T, Muniz JC, Payne RM, Portman MA, Russell MW, Sanil Y, Shakti D, Sharma K, Shea JR, Sykes M, Shekerdemian LS, Szmuszkovicz J, Thacker D, Newburger JW; MUSIC Study Investigators. Truong DT, et al. JAMA Pediatr. 2025 Jan 13. doi: 10.1001/jamapediatrics.2024.5466. Online ahead of print. JAMA Pediatr. 2025. PMID: 39804656
Efgartigimod efficacy and safety in refractory myasthenia gravis: UK's first real-world experience.
Moniz Dionísio J, Ambrose P, Burke G, Farrugia ME, Garcia-Reitboeck P, Hewamadduma C, Hill M, Howard RS, Jacob S, Kullmann D, Leite MI, Miller J, Pinto A, Pritchard J, Riswick T, Sathasivam S, Thambirajah N, Viegas S, Norwood F, Spillane J. Moniz Dionísio J, et al. Among authors: miller j. J Neurol Neurosurg Psychiatry. 2025 Jan 11:jnnp-2024-334086. doi: 10.1136/jnnp-2024-334086. Online ahead of print. J Neurol Neurosurg Psychiatry. 2025. PMID: 39798959
20,791 results
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