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Page 1
Nitrous oxide myelopathy: a case series.
Patel SG, Zhang T, Liem B, Sundram F, Roxburgh RH, Barber PA. Patel SG, et al. Among authors: roxburgh rh. N Z Med J. 2024 Jul 19;137(1599):49-54. doi: 10.26635/6965.6477. N Z Med J. 2024. PMID: 39024584
An international pilot study of an Internet-based platform to facilitate clinical research in epilepsy: the EpiNet project.
Bergin P, Sadleir L, Legros B, Mogal Z, Tripathi M, Dang N, Beretta S, Zanchi C, Burneo J, Borkowski T, Cho YJ, Ossemann M, Striano P, Srivastava K, Tan HJ, Wanigasinghe J, D'Souza W; EpiNet study group. Bergin P, et al. Epilepsia. 2012 Oct;53(10):1829-35. doi: 10.1111/j.1528-1167.2012.03636.x. Epub 2012 Sep 7. Epilepsia. 2012. PMID: 22958055 Free article.
Neuronal intranuclear inclusion disease in New Zealand: A novel discovery.
Zhang T, Chancellor A, Liem B, Turner C, Hutchinson D, Wong E, Glamuzina E, Hong JB, Cleland J, Child N, Roxburgh RH, Patel S, Lee YC, Liao YC, Anderson NE. Zhang T, et al. Among authors: roxburgh rh. J Neurol Sci. 2024 May 15;460:122987. doi: 10.1016/j.jns.2024.122987. Epub 2024 Apr 3. J Neurol Sci. 2024. PMID: 38579412
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG, Bryen SJ, Bahlo M, Cairns A, Chao KR, Corbett A, Davis MR, Ganesh VS, Ghaoui R, Jones KJ, Kornberg AJ, Lek M, Liang C, MacArthur DG, Oates EC, O'Donnell-Luria A, O'Grady GL, Osei-Owusu IA, Rafehi H, Reddel SW, Roxburgh RH, Ryan MM, Sandaradura SA, Scott LW, Valkanas E, Weisburd B, Young H, Evesson FJ, Waddell LB, Cooper ST. Marchant RG, et al. Among authors: roxburgh rh. Ann Clin Transl Neurol. 2024 May;11(5):1250-1266. doi: 10.1002/acn3.52041. Epub 2024 Mar 27. Ann Clin Transl Neurol. 2024. PMID: 38544359 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: roxburgh rh. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
Scriba CK, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Ghaoui R, Ghia D, Henderson RD, Jordan N, Winkel A, Lamont PJ, Rodrigues MJ, Roxburgh RH, Weisburd B, Laing NG, Deveson IW, Davis MR, Ravenscroft G. Scriba CK, et al. Among authors: roxburgh rh. Brain Commun. 2023 Jul 25;5(4):fcad208. doi: 10.1093/braincomms/fcad208. eCollection 2023. Brain Commun. 2023. PMID: 37621409 Free PMC article.
40 results