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Page 1
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.
Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF. Thornton CA, et al. Lancet Neurol. 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. Lancet Neurol. 2023. PMID: 36804094 Clinical Trial.
Repeat-associated RNA structure and aberrant splicing.
Hale MA, Johnson NE, Berglund JA. Hale MA, et al. Biochim Biophys Acta Gene Regul Mech. 2019 Nov-Dec;1862(11-12):194405. doi: 10.1016/j.bbagrm.2019.07.006. Epub 2019 Jul 16. Biochim Biophys Acta Gene Regul Mech. 2019. PMID: 31323433 Free PMC article. Review.
Myotonic dystrophy: approach to therapy.
Thornton CA, Wang E, Carrell EM. Thornton CA, et al. Curr Opin Genet Dev. 2017 Jun;44:135-140. doi: 10.1016/j.gde.2017.03.007. Epub 2017 Apr 1. Curr Opin Genet Dev. 2017. PMID: 28376341 Free PMC article. Review.
Transcriptome alterations in myotonic dystrophy frontal cortex.
Otero BA, Poukalov K, Hildebrandt RP, Thornton CA, Jinnai K, Fujimura H, Kimura T, Hagerman KA, Sampson JB, Day JW, Wang ET. Otero BA, et al. Cell Rep. 2021 Jan 19;34(3):108634. doi: 10.1016/j.celrep.2020.108634. Cell Rep. 2021. PMID: 33472074 Free PMC article.
Consensus-based care recommendations for adults with myotonic dystrophy type 1.
Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R 3rd, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S. Ashizawa T, et al. Neurol Clin Pract. 2018 Dec;8(6):507-520. doi: 10.1212/CPJ.0000000000000531. Neurol Clin Pract. 2018. PMID: 30588381 Free PMC article. Review.
61 results