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Year Number of Results
1995 1
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2001 1
2002 1
2004 2
2006 2
2007 3
2008 2
2009 1
2010 2
2011 4
2013 2
2014 1
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Page 1
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: lemckert f. 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.
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre.
Wong WK, Bryen SJ, Bournazos A, Yasa J, Lemckert F, Bommireddipall S, Waddell LB, Menezes MP, Webster R, Davis M, Liang C, Cooper ST, Jones KJ. Wong WK, et al. Among authors: lemckert f. Neuromuscul Disord. 2022 Sep;32(9):707-717. doi: 10.1016/j.nmd.2022.07.401. Epub 2022 Jul 26. Neuromuscul Disord. 2022. PMID: 35948506
Divergent regulation of the sarcomere and the cytoskeleton.
Schevzov G, Fath T, Vrhovski B, Vlahovich N, Rajan S, Hook J, Joya JE, Lemckert F, Puttur F, Lin JJ, Hardeman EC, Wieczorek DF, O'Neill GM, Gunning PW. Schevzov G, et al. Among authors: lemckert f. J Biol Chem. 2008 Jan 4;283(1):275-283. doi: 10.1074/jbc.M704392200. Epub 2007 Oct 18. J Biol Chem. 2008. PMID: 17951248 Free article.
35 results