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A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity.
Flanigan KM, Waldrop MA, Martin PT, Alles R, Dunn DM, Alfano LN, Simmons TR, Moore-Clingenpeel M, Burian J, Seok SC, Weiss RB, Vieland VJ. Flanigan KM, et al. Among authors: simmons tr. Eur J Hum Genet. 2023 Jun;31(6):663-673. doi: 10.1038/s41431-023-01329-5. Epub 2023 Mar 20. Eur J Hum Genet. 2023. PMID: 36935420 Free PMC article.
The ZZ domain of dystrophin in DMD: making sense of missense mutations.
Vulin A, Wein N, Strandjord DM, Johnson EK, Findlay AR, Maiti B, Howard MT, Kaminoh YJ, Taylor LE, Simmons TR, Ray WC, Montanaro F, Ervasti JM, Flanigan KM. Vulin A, et al. Among authors: simmons tr. Hum Mutat. 2014 Feb;35(2):257-64. doi: 10.1002/humu.22479. Epub 2013 Dec 2. Hum Mutat. 2014. PMID: 24302611 Free PMC article.
Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse.
Wein N, Vetter TA, Vulin A, Simmons TR, Frair EC, Bradley AJ, Gushchina LV, Almeida CF, Huang N, Lesman D, Rajakumar D, Weiss RB, Flanigan KM. Wein N, et al. Among authors: simmons tr. Mol Ther Methods Clin Dev. 2022 Jul 11;26:279-293. doi: 10.1016/j.omtm.2022.07.005. eCollection 2022 Sep 8. Mol Ther Methods Clin Dev. 2022. PMID: 35949298 Free PMC article.
A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2.
Flanigan KM, Vetter TA, Simmons TR, Iammarino M, Frair EC, Rinaldi F, Chicoine LG, Harris J, Cheatham JP, Cheatham SL, Boe B, Waldrop MA, Zygmunt DA, Packer D, Martin PT. Flanigan KM, et al. Among authors: simmons tr. Mol Ther Methods Clin Dev. 2022 Sep 2;27:47-60. doi: 10.1016/j.omtm.2022.08.009. eCollection 2022 Dec 8. Mol Ther Methods Clin Dev. 2022. PMID: 36186954 Free PMC article.
Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy.
Gushchina LV, Vetter TA, Frair EC, Bradley AJ, Grounds KM, Lay JW, Huang N, Suhaiba A, Schnell FJ, Hanson G, Simmons TR, Wein N, Flanigan KM. Gushchina LV, et al. Among authors: simmons tr. Mol Ther Nucleic Acids. 2022 Nov 9;30:479-492. doi: 10.1016/j.omtn.2022.10.025. eCollection 2022 Dec 13. Mol Ther Nucleic Acids. 2022. PMID: 36420217 Free PMC article.
31 results