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A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
Beecroft SJ, Cortese A, Sullivan R, Yau WY, Dyer Z, Wu TY, Mulroy E, Pelosi L, Rodrigues M, Taylor R, Mossman S, Leadbetter R, Cleland J, Anderson T, Ravenscroft G, Laing NG, Houlden H, Reilly MM, Roxburgh RH. Beecroft SJ, et al. Among authors: cleland j. Brain. 2020 Sep 1;143(9):2673-2680. doi: 10.1093/brain/awaa203. Brain. 2020. PMID: 32851396 Free PMC article.
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.
Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome.
Wu TY, Taylor JM, Kilfoyle DH, Smith AD, McGuinness BJ, Simpson MP, Walker EB, Bergin PS, Cleland JC, Hutchinson DO, Anderson NE, Snow BJ, Anderson TJ, Paermentier LA, Cutfield NJ, Chancellor AM, Mossman SS, Roxburgh RH. Wu TY, et al. Among authors: cleland jc. Brain. 2014 Oct;137(Pt 10):2649-56. doi: 10.1093/brain/awu196. Epub 2014 Jul 28. Brain. 2014. PMID: 25070514
A tough one to swallow.
Mulroy E, Cleland J, Child N, Pereira J, Anderson NE. Mulroy E, et al. Among authors: cleland j. Pract Neurol. 2018 Jun;18(3):250-254. doi: 10.1136/practneurol-2017-001860. Epub 2018 Mar 22. Pract Neurol. 2018. PMID: 29567648 No abstract available.
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: cleland j. 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
EpiNet as a way of involving more physicians and patients in epilepsy research: Validation study and accreditation process.
Bergin PS, Beghi E, Sadleir LG, Brockington A, Tripathi M, Richardson MP, Bianchi E, Srivastava K, Jayabal J, Legros B, Ossemann M, McGrath N, Verrotti A, Tan HJ, Beretta S, Frith R, Iniesta I, Whitham E, Wanigasinghe J, Ezeala-Adikaibe B, Striano P, Rosemergy I, Walker EB, Alkhidze M, Rodriguez-Leyva I, Ramírez González JA, D'Souza WJ; EpiNet Study Group. Bergin PS, et al. Epilepsia Open. 2017 Jan 3;2(1):20-31. doi: 10.1002/epi4.12033. eCollection 2017 Mar. Epilepsia Open. 2017. PMID: 29750210 Free PMC article.
2,283 results