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Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur DG, Clarke NF, Cooper S, North K. O'Grady GL, et al. Ann Neurol. 2016 Jul;80(1):101-11. doi: 10.1002/ana.24687. Epub 2016 May 25. Ann Neurol. 2016. PMID: 27159402
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: north kn. 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
Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.
Waddell LB, Lemckert FA, Zheng XF, Tran J, Evesson FJ, Hawkes JM, Lek A, Street NE, Lin P, Clarke NF, Landstrom AP, Ackerman MJ, Weisleder N, Ma J, North KN, Cooper ST. Waddell LB, et al. Among authors: north kn. J Neuropathol Exp Neurol. 2011 Apr;70(4):302-13. doi: 10.1097/NEN.0b013e31821350b0. J Neuropathol Exp Neurol. 2011. PMID: 21412170 Free PMC article.
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.
Waddell LB, Tran J, Zheng XF, Bönnemann CG, Hu Y, Evesson FJ, Lek M, Arbuckle S, Wang MX, Smith RL, North KN, Clarke NF. Waddell LB, et al. Among authors: north kn. Neuromuscul Disord. 2011 Nov;21(11):776-81. doi: 10.1016/j.nmd.2011.05.007. Epub 2011 Jun 17. Neuromuscul Disord. 2011. PMID: 21683594 Free PMC article.
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: north kn. 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
339 results