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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: kornberg 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
Dietary L-tyrosine supplementation in nemaline myopathy.
Ryan MM, Sy C, Rudge S, Ellaway C, Ketteridge D, Roddick LG, Iannaccone ST, Kornberg AJ, North KN. Ryan MM, et al. J Child Neurol. 2008 Jun;23(6):609-13. doi: 10.1177/0883073807309794. Epub 2007 Dec 13. J Child Neurol. 2008. PMID: 18079309
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: kornberg aj. 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.
Cap disease due to mutation of the beta-tropomyosin gene (TPM2).
Clarke NF, Domazetovska A, Waddell L, Kornberg A, McLean C, North KN. Clarke NF, et al. Among authors: kornberg a. Neuromuscul Disord. 2009 May;19(5):348-51. doi: 10.1016/j.nmd.2009.03.003. Epub 2009 Apr 3. Neuromuscul Disord. 2009. PMID: 19345583
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.
Waddell LB, Kreissl M, Kornberg A, Kennedy P, McLean C, Labarre-Vila A, Monnier N, North KN, Clarke NF. Waddell LB, et al. Among authors: kornberg a. Neuromuscul Disord. 2010 Jul;20(7):464-6. doi: 10.1016/j.nmd.2010.05.012. Epub 2010 Jun 15. Neuromuscul Disord. 2010. PMID: 20554445
Mutations in TPM2 and congenital fibre type disproportion.
Clarke NF, Waddell LB, Sie LT, van Bon BW, McLean C, Clark D, Kornberg A, Lammens M, North KN. Clarke NF, et al. Among authors: kornberg a. Neuromuscul Disord. 2012 Nov;22(11):955-8. doi: 10.1016/j.nmd.2012.06.002. Epub 2012 Jul 24. Neuromuscul Disord. 2012. PMID: 22832343
679 results