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Mouse model of severe recessive RYR1-related myopathy.
Brennan S, Garcia-Castañeda M, Michelucci A, Sabha N, Malik S, Groom L, Wei LaPierre L, Dowling JJ, Dirksen RT. Brennan S, et al. Among authors: dowling jj. Hum Mol Genet. 2019 Sep 15;28(18):3024-3036. doi: 10.1093/hmg/ddz105. Hum Mol Genet. 2019. PMID: 31107960 Free PMC article.
Zebrafish models of collagen VI-related myopathies.
Telfer WR, Busta AS, Bonnemann CG, Feldman EL, Dowling JJ. Telfer WR, et al. Among authors: dowling jj. Hum Mol Genet. 2010 Jun 15;19(12):2433-44. doi: 10.1093/hmg/ddq126. Epub 2010 Mar 25. Hum Mol Genet. 2010. PMID: 20338942 Free PMC article.
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
Pierson CR, Dulin-Smith AN, Durban AN, Marshall ML, Marshall JT, Snyder AD, Naiyer N, Gladman JT, Chandler DS, Lawlor MW, Buj-Bello A, Dowling JJ, Beggs AH. Pierson CR, et al. Among authors: dowling jj. Hum Mol Genet. 2012 Feb 15;21(4):811-25. doi: 10.1093/hmg/ddr512. Epub 2011 Nov 7. Hum Mol Genet. 2012. PMID: 22068590 Free PMC article.
Conditional knockout of pik3c3 causes a murine muscular dystrophy.
Reifler A, Li X, Archambeau AJ, McDade JR, Sabha N, Michele DE, Dowling JJ. Reifler A, et al. Among authors: dowling jj. Am J Pathol. 2014 Jun;184(6):1819-30. doi: 10.1016/j.ajpath.2014.02.012. Epub 2014 Apr 13. Am J Pathol. 2014. PMID: 24726497 Free PMC article.
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.
Wojtal D, Kemaladewi DU, Malam Z, Abdullah S, Wong TW, Hyatt E, Baghestani Z, Pereira S, Stavropoulos J, Mouly V, Mamchaoui K, Muntoni F, Voit T, Gonorazky HD, Dowling JJ, Wilson MD, Mendoza-Londono R, Ivakine EA, Cohn RD. Wojtal D, et al. Among authors: dowling jj. Am J Hum Genet. 2016 Jan 7;98(1):90-101. doi: 10.1016/j.ajhg.2015.11.012. Epub 2015 Dec 10. Am J Hum Genet. 2016. PMID: 26686765 Free PMC article.
196 results