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Year | Number of Results |
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2009 | 1 |
2011 | 2 |
2012 | 2 |
2013 | 1 |
2024 | 0 |
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Page 1
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.
Hum Mutat. 2012 Jan;33(1):198-208. doi: 10.1002/humu.21632. Epub 2011 Nov 9.
Hum Mutat. 2012.
PMID: 22006793
Free PMC article.
Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum.
Du L, Kayali R, Bertoni C, Fike F, Hu H, Iversen PL, Gatti RA.
Du L, et al.
Hum Mol Genet. 2011 Aug 15;20(16):3151-60. doi: 10.1093/hmg/ddr217. Epub 2011 May 16.
Hum Mol Genet. 2011.
PMID: 21576124
Free PMC article.
Item in Clipboard
A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.
Du L, Jung ME, Damoiseaux R, Completo G, Fike F, Ku JM, Nahas S, Piao C, Hu H, Gatti RA.
Du L, et al.
Mol Ther. 2013 Sep;21(9):1653-60. doi: 10.1038/mt.2013.150. Epub 2013 Jun 18.
Mol Ther. 2013.
PMID: 23774824
Free PMC article.
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Nonaminoglycoside compounds induce readthrough of nonsense mutations.
Du L, Damoiseaux R, Nahas S, Gao K, Hu H, Pollard JM, Goldstine J, Jung ME, Henning SM, Bertoni C, Gatti RA.
Du L, et al.
J Exp Med. 2009 Sep 28;206(10):2285-97. doi: 10.1084/jem.20081940. Epub 2009 Sep 21.
J Exp Med. 2009.
PMID: 19770270
Free PMC article.
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Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy.
Kayali R, Ku JM, Khitrov G, Jung ME, Prikhodko O, Bertoni C.
Kayali R, et al.
Hum Mol Genet. 2012 Sep 15;21(18):4007-20. doi: 10.1093/hmg/dds223. Epub 2012 Jun 12.
Hum Mol Genet. 2012.
PMID: 22692682
Free PMC article.
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