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Online self-report data for duchenne muscular dystrophy confirms natural history and can be used to assess for therapeutic benefits.
Wang RT, Silverstein Fadlon CA, Ulm JW, Jankovic I, Eskin A, Lu A, Rangel Miller V, Cantor RM, Li N, Elashoff R, Martin AS, Peay HL, Halnon N, Nelson SF. Wang RT, et al. Among authors: nelson sf. PLoS Curr. 2014 Oct 17;6:ecurrents.md.e1e8f2be7c949f9ffe81ec6fca1cce6a. doi: 10.1371/currents.md.e1e8f2be7c949f9ffe81ec6fca1cce6a. PLoS Curr. 2014. PMID: 25635234 Free PMC article.
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL; UCLA Clinical Genomics Center; Grody WW, Vilain E, Nelson SF. Arboleda VA, et al. Among authors: nelson sf. Am J Hum Genet. 2015 Mar 5;96(3):498-506. doi: 10.1016/j.ajhg.2015.01.017. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728775 Free PMC article.
A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells.
Young CS, Hicks MR, Ermolova NV, Nakano H, Jan M, Younesi S, Karumbayaram S, Kumagai-Cresse C, Wang D, Zack JA, Kohn DB, Nakano A, Nelson SF, Miceli MC, Spencer MJ, Pyle AD. Young CS, et al. Among authors: nelson sf. Cell Stem Cell. 2016 Apr 7;18(4):533-40. doi: 10.1016/j.stem.2016.01.021. Epub 2016 Feb 11. Cell Stem Cell. 2016. PMID: 26877224 Free PMC article.
The case for eteplirsen: Paving the way for precision medicine.
Miceli MC, Nelson SF. Miceli MC, et al. Among authors: nelson sf. Mol Genet Metab. 2016 Jun;118(2):70-1. doi: 10.1016/j.ymgme.2016.04.001. Epub 2016 Apr 14. Mol Genet Metab. 2016. PMID: 27102846 No abstract available.
396 results