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Page 1
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.
DNA testing in hereditary neuropathies.
Murphy SM, Laurá M, Reilly MM. Murphy SM, et al. Handb Clin Neurol. 2013;115:213-32. doi: 10.1016/B978-0-444-52902-2.00012-6. Handb Clin Neurol. 2013. PMID: 23931782 Review.
Charcot-Marie-Tooth disease.
Reilly MM, Murphy SM, Laurá M. Reilly MM, et al. Among authors: murphy sm. J Peripher Nerv Syst. 2011 Mar;16(1):1-14. doi: 10.1111/j.1529-8027.2011.00324.x. J Peripher Nerv Syst. 2011. PMID: 21504497 Review.
Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.
Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL, Rossor AM, Polke JM, Castleman V, Manji H, Lunn MP, Bull K, Ramdharry G, Davis M, Blake JC, Houlden H, Reilly MM. Murphy SM, et al. J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):706-10. doi: 10.1136/jnnp-2012-302451. Epub 2012 May 10. J Neurol Neurosurg Psychiatry. 2012. PMID: 22577229 Free PMC article.
Knee bobbing in Charcot-Marie-Tooth disease.
Rossor AM, Murphy S, Reilly MM. Rossor AM, et al. Pract Neurol. 2012 Jun;12(3):182-3. doi: 10.1136/practneurol-2011-000167. Pract Neurol. 2012. PMID: 22661351 Free PMC article.
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.
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.
Pitceathly RD, Murphy SM, Cottenie E, Chalasani A, Sweeney MG, Woodward C, Mudanohwo EE, Hargreaves I, Heales S, Land J, Holton JL, Houlden H, Blake J, Champion M, Flinter F, Robb SA, Page R, Rose M, Palace J, Crowe C, Longman C, Lunn MP, Rahman S, Reilly MM, Hanna MG. Pitceathly RD, et al. Among authors: murphy sm. Neurology. 2012 Sep 11;79(11):1145-54. doi: 10.1212/WNL.0b013e3182698d8d. Epub 2012 Aug 29. Neurology. 2012. PMID: 22933740 Free PMC article.
414 results