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Page 1
Is it Pompe Disease? Australian diagnostic considerations.
Tchan M, Henderson R, Kornberg A, Kairaitis K, Fuller M, Davis M, Ellaway C, Reardon K, Corbett A, Needham M, McKelvie P. Tchan M, et al. Among authors: corbett a. Neuromuscul Disord. 2020 May;30(5):389-399. doi: 10.1016/j.nmd.2020.03.007. Epub 2020 Apr 16. Neuromuscul Disord. 2020. PMID: 32418839
High-resolution HLA-DRB1 genotyping in an Australian inclusion body myositis (s-IBM) cohort: an analysis of disease-associated alleles and diplotypes.
Rojana-udomsart A, James I, Castley A, Needham M, Scott A, Day T, Kiers L, Corbett A, Sue C, Witt C, Martinez P, Christiansen F, Mastaglia F. Rojana-udomsart A, et al. Among authors: corbett a. J Neuroimmunol. 2012 Sep 15;250(1-2):77-82. doi: 10.1016/j.jneuroim.2012.05.003. Epub 2012 May 26. J Neuroimmunol. 2012. PMID: 22633068
Expanding the phenotype of GMPPB mutations.
Cabrera-Serrano M, Ghaoui R, Ravenscroft G, Johnsen RD, Davis MR, Corbett A, Reddel S, Sue CM, Liang C, Waddell LB, Kaur S, Lek M, North KN, MacArthur DG, Lamont PJ, Clarke NF, Laing NG. Cabrera-Serrano M, et al. Among authors: corbett a. Brain. 2015 Apr;138(Pt 4):836-44. doi: 10.1093/brain/awv013. Epub 2015 Feb 12. Brain. 2015. PMID: 25681410
Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and the USA.
Price MA, Barghout V, Benveniste O, Christopher-Stine L, Corbett A, de Visser M, Hilton-Jones D, Kissel JT, Lloyd TE, Lundberg IE, Mastaglia F, Mozaffar T, Needham M, Schmidt J, Sivakumar K, DeMuro C, Tseng BS. Price MA, et al. Among authors: corbett a. J Neuromuscul Dis. 2016 Mar 3;3(1):67-75. doi: 10.3233/JND-150138. J Neuromuscul Dis. 2016. PMID: 27854208 Free PMC article.
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: corbett a. 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.
756 results