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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: rodrigues m. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free 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 Free article. 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.
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.
4,430 results