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Page 1
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
Scriba CK, Beecroft SJ, Clayton JS, Cortese A, Sullivan R, Yau WY, Dominik N, Rodrigues M, Walker E, Dyer Z, Wu TY, Davis MR, Chandler DC, Weisburd B, Houlden H, Reilly MM, Laing NG, Lamont PJ, Roxburgh RH, Ravenscroft G. Scriba CK, et al. Among authors: rodrigues m. Brain. 2020 Oct 1;143(10):2904-2910. doi: 10.1093/brain/awaa263. Brain. 2020. PMID: 33103729 Free PMC article.
The New Zealand Neuromuscular Disease Registry.
Rodrigues M, Hammond-Tooke G, Kidd A, Love D, Patel R, Dawkins H, Bellgard M, Roxburgh R. Rodrigues M, et al. J Clin Neurosci. 2012 Dec;19(12):1749-50. doi: 10.1016/j.jocn.2012.04.008. Epub 2012 Sep 19. J Clin Neurosci. 2012. PMID: 22999565
Prevalence of muscular dystrophies: a systematic literature review.
Theadom A, Rodrigues M, Roxburgh R, Balalla S, Higgins C, Bhattacharjee R, Jones K, Krishnamurthi R, Feigin V. Theadom A, et al. Among authors: rodrigues m. Neuroepidemiology. 2014;43(3-4):259-68. doi: 10.1159/000369343. Epub 2014 Dec 16. Neuroepidemiology. 2014. PMID: 25532075 Review.
A 'limb-girdle muscular dystrophy' responsive to asthma therapy.
Mulroy E, Ghaoui R, Hutchinson D, Rodrigues M, Lek M, MacArthur DG, Cooper ST, Clarke NF, Roxburgh R. Mulroy E, et al. Among authors: rodrigues m. Pract Neurol. 2017 Aug;17(4):327-331. doi: 10.1136/practneurol-2017-001598. Epub 2017 Apr 22. Pract Neurol. 2017. PMID: 28433973 No abstract available.
Peripheral nerve ultrasound in Friedreich ataxia.
Mulroy E, Pelosi L, Leadbetter R, Joshi P, Rodrigues M, Mossman S, Kilfoyle D, Roxburgh R. Mulroy E, et al. Among authors: rodrigues m. Muscle Nerve. 2018 May;57(5):852-856. doi: 10.1002/mus.26012. Epub 2017 Nov 27. Muscle Nerve. 2018. PMID: 29130498
Spinocerebellar ataxia type 2-neuronopathy or neuropathy?
Pelosi L, Iodice R, Antenora A, Kilfoyle D, Mulroy E, Rodrigues M, Roxburgh R, Iovino A, Filla A, Manganelli F, Santoro L. Pelosi L, et al. Among authors: rodrigues m. Muscle Nerve. 2019 Sep;60(3):271-278. doi: 10.1002/mus.26613. Epub 2019 Jul 5. Muscle Nerve. 2019. PMID: 31228263
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: rodrigues m. Brain. 2020 Sep 1;143(9):2673-2680. doi: 10.1093/brain/awaa203. Brain. 2020. PMID: 32851396 Free PMC article.
4,804 results