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Contactin-1 links autoimmune neuropathy and membranous glomerulonephritis.
Fehmi J, Davies AJ, Antonelou M, Keddie S, Pikkupeura S, Querol L, Delmont E, Cortese A, Franciotta D, Persson S, Barratt J, Pepper R, Farinha F, Rahman A, Canetti D, Gilbertson JA, Rendell NB, Radunovic A, Minton T, Fuller G, Murphy SM, Carr AS, Reilly MR, Eftimov F, Wieske L, Teunissen CE, Roberts ISD, Ashman N, Salama AD, Rinaldi S. Fehmi J, et al. Among authors: murphy sm. PLoS One. 2023 Mar 9;18(3):e0281156. doi: 10.1371/journal.pone.0281156. eCollection 2023. PLoS One. 2023. PMID: 36893151 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: murphy sm. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
BAG3 mutations: another cause of giant axonal neuropathy.
Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, Phadke R, Selcen D, Jungbluth H, Muntoni F, Reilly MM. Jaffer F, et al. Among authors: murphy sm. J Peripher Nerv Syst. 2012 Jun;17(2):210-6. doi: 10.1111/j.1529-8027.2012.00409.x. J Peripher Nerv Syst. 2012. PMID: 22734908
Hypoglossal palsy from an atlanto-axial synovial cyst.
Vaughan D, Murphy SM, Alexander MD, Walsh RA. Vaughan D, et al. Among authors: murphy sm. Pract Neurol. 2020 Oct;20(5):427-428. doi: 10.1136/practneurol-2020-002504. Epub 2020 May 4. Pract Neurol. 2020. PMID: 32366594 No abstract available.
414 results