U54 NS048843/NS/NINDS NIH HHS/United States[Grant Number] - Search Results

Year	Number of Results
2004	1
2006	1
2007	3
2008	2
2009	5
2010	6
2011	8
2012	11
2013	9
2014	7
2015	6
2016	8
2017	7
2018	10
2019	3
2020	2
2021	1
2022	1
2023	1
2024	1
2026	0

1

C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A.

Mirceta M, Schmidt MHM, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, McKeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson MD, Abell T, Philips EA, Sznajder ŁJ, Swanson MS, Mehkary M, Khan M, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RKC, Abrahão A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CE. Mirceta M, et al. NAR Mol Med. 2024 Nov 12;1(4):ugae019. doi: 10.1093/narmme/ugae019. eCollection 2024 Oct. NAR Mol Med. 2024. PMID: 39669124 Free PMC article.

2

Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.

Nutter CA, Kidd BM, Carter HA, Hamel JI, Mackie PM, Kumbkarni N, Davenport ML, Tuyn DM, Gopinath A, Creigh PD, Sznajder ŁJ, Wang ET, Ranum LPW, Khoshbouei H, Day JW, Sampson JB, Prokop S, Swanson MS. Nutter CA, et al. Brain. 2023 Oct 3;146(10):4217-4232. doi: 10.1093/brain/awad148. Brain. 2023. PMID: 37143315 Free PMC article.

3

Negative autoregulation mitigates collateral RNase activity of repeat-targeting CRISPR-Cas13d in mammalian cells.

Kelley CP, Haerle MC, Wang ET. Kelley CP, et al. Cell Rep. 2022 Aug 16;40(7):111226. doi: 10.1016/j.celrep.2022.111226. Cell Rep. 2022. PMID: 35977479 Free PMC article.

4

Predictors of functional outcomes in patients with facioscapulohumeral muscular dystrophy.

Katz NK, Hogan J, Delbango R, Cernik C, Tawil R, Statland JM. Katz NK, et al. Brain. 2021 Dec 16;144(11):3451-3460. doi: 10.1093/brain/awab326. Brain. 2021. PMID: 34542603 Free PMC article.

5

UTteR control through miRs: fine-tuning ATXN1 levels to prevent ataxia.

Xie M, Swanson MS. Xie M, et al. Genes Dev. 2020 Sep 1;34(17-18):1107-1109. doi: 10.1101/gad.343020.120. Genes Dev. 2020. PMID: 32873576 Free PMC article. Review.

6

Biophysical mechanisms for QRS- and QTc-interval prolongation in mice with cardiac expression of expanded CUG-repeat RNA.

Tylock KM, Auerbach DS, Tang ZZ, Thornton CA, Dirksen RT. Tylock KM, et al. J Gen Physiol. 2020 Feb 3;152(2):e201912450. doi: 10.1085/jgp.201912450. J Gen Physiol. 2020. PMID: 31968060 Free PMC article.

7

Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries.

Higgs C, Hilbert JE, Wood L, Martens WB, Marini-Bettolo C, Nikolenko N, Alsaggaf R, Lochmüller H, Moxley RT, Greene MH, Wang Y, Gadalla SM. Higgs C, et al. Front Neurol. 2019 Oct 11;10:1071. doi: 10.3389/fneur.2019.01071. eCollection 2019. Front Neurol. 2019. PMID: 31681146 Free PMC article.

8

Transcriptome alterations in myotonic dystrophy skeletal muscle and heart.

Wang ET, Treacy D, Eichinger K, Struck A, Estabrook J, Olafson H, Wang TT, Bhatt K, Westbrook T, Sedehizadeh S, Ward A, Day J, Brook D, Berglund JA, Cooper T, Housman D, Thornton C, Burge C. Wang ET, et al. Hum Mol Genet. 2019 Apr 15;28(8):1312-1321. doi: 10.1093/hmg/ddy432. Hum Mol Genet. 2019. PMID: 30561649 Free PMC article.

9

Survival patterns and cancer determinants in families with myotonic dystrophy type 1.

Best AF, Hilbert JE, Wood L, Martens WB, Nikolenko N, Marini-Bettolo C, Lochmüller H, Rosenberg PS, Moxley RT 3rd, Greene MH, Gadalla SM. Best AF, et al. Eur J Neurol. 2019 Jan;26(1):58-65. doi: 10.1111/ene.13763. Epub 2018 Sep 16. Eur J Neurol. 2019. PMID: 30051542 Free PMC article.

10

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.

11

STRring up Cancer with lncRNA.

Bubenik J, Swanson MS. Bubenik J, et al. Mol Cell. 2018 Nov 1;72(3):399-401. doi: 10.1016/j.molcel.2018.10.026. Mol Cell. 2018. PMID: 30388407 Free article.

12

Mechanosensitive Gene Regulation by Myocardin-Related Transcription Factors Is Required for Cardiomyocyte Integrity in Load-Induced Ventricular Hypertrophy.

Trembley MA, Quijada P, Agullo-Pascual E, Tylock KM, Colpan M, Dirkx RA Jr, Myers JR, Mickelsen DM, de Mesy Bentley K, Rothenberg E, Moravec CS, Alexis JD, Gregorio CC, Dirksen RT, Delmar M, Small EM. Trembley MA, et al. Circulation. 2018 Oct 23;138(17):1864-1878. doi: 10.1161/CIRCULATIONAHA.117.031788. Circulation. 2018. PMID: 29716942 Free PMC article.

13

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H. Wood L, et al. Orphanet J Rare Dis. 2018 Sep 5;13(1):155. doi: 10.1186/s13023-018-0889-0. Orphanet J Rare Dis. 2018. PMID: 30185236 Free PMC article.

14

Intron retention induced by microsatellite expansions as a disease biomarker.

Sznajder ŁJ, Thomas JD, Carrell EM, Reid T, McFarland KN, Cleary JD, Oliveira R, Nutter CA, Bhatt K, Sobczak K, Ashizawa T, Thornton CA, Ranum LPW, Swanson MS. Sznajder ŁJ, et al. Proc Natl Acad Sci U S A. 2018 Apr 17;115(16):4234-4239. doi: 10.1073/pnas.1716617115. Epub 2018 Apr 2. Proc Natl Acad Sci U S A. 2018. PMID: 29610297 Free PMC article.

15

Design of Bivalent Nucleic Acid Ligands for Recognition of RNA-Repeated Expansion Associated with Huntington's Disease.

Thadke SA, Perera JDR, Hridya VM, Bhatt K, Shaikh AY, Hsieh WC, Chen M, Gayathri C, Gil RR, Rule GS, Mukherjee A, Thornton CA, Ly DH. Thadke SA, et al. Biochemistry. 2018 Apr 10;57(14):2094-2108. doi: 10.1021/acs.biochem.8b00062. Epub 2018 Mar 27. Biochemistry. 2018. PMID: 29562132 Free PMC article.

16

Design of a "Mini" Nucleic Acid Probe for Cooperative Binding of an RNA-Repeated Transcript Associated with Myotonic Dystrophy Type 1.

Hsieh WC, Bahal R, Thadke SA, Bhatt K, Sobczak K, Thornton C, Ly DH. Hsieh WC, et al. Biochemistry. 2018 Feb 13;57(6):907-911. doi: 10.1021/acs.biochem.7b01239. Epub 2018 Jan 19. Biochemistry. 2018. PMID: 29334465 Free PMC article.

17

Detection of expanded RNA repeats using thermostable group II intron reverse transcriptase.

Carrell ST, Tang Z, Mohr S, Lambowitz AM, Thornton CA. Carrell ST, et al. Nucleic Acids Res. 2018 Jan 9;46(1):e1. doi: 10.1093/nar/gkx867. Nucleic Acids Res. 2018. PMID: 29036654 Free PMC article.

18

Risk of cardiac events in Long QT syndrome patients when taking antiseizure medications.

Auerbach DS, Biton Y, Polonsky B, McNitt S, Gross RA, Dirksen RT, Moss AJ. Auerbach DS, et al. Transl Res. 2018 Jan;191:81-92.e7. doi: 10.1016/j.trsl.2017.10.002. Epub 2017 Oct 20. Transl Res. 2018. PMID: 29121487 Free PMC article.

19

Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9.

Pinto BS, Saxena T, Oliveira R, Méndez-Gómez HR, Cleary JD, Denes LT, McConnell O, Arboleda J, Xia G, Swanson MS, Wang ET. Pinto BS, et al. Mol Cell. 2017 Nov 2;68(3):479-490.e5. doi: 10.1016/j.molcel.2017.09.033. Epub 2017 Oct 19. Mol Cell. 2017. PMID: 29056323 Free PMC article.

20

High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2.

Hilbert JE, Barohn RJ, Clemens PR, Luebbe EA, Martens WB, McDermott MP, Parkhill AL, Tawil R, Thornton CA, Moxley RT 3rd; National Registry Scientific Advisory Committee/Investigators. Hilbert JE, et al. Neurology. 2017 Sep 26;89(13):1348-1354. doi: 10.1212/WNL.0000000000004420. Epub 2017 Aug 30. Neurology. 2017. PMID: 28855409 Free PMC article.

21

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice.

Jauvin D, Chrétien J, Pandey SK, Martineau L, Revillod L, Bassez G, Lachon A, MacLeod AR, Gourdon G, Wheeler TM, Thornton CA, Bennett CF, Puymirat J. Jauvin D, et al. Mol Ther Nucleic Acids. 2017 Jun 16;7:465-474. doi: 10.1016/j.omtn.2017.05.007. Epub 2017 May 17. Mol Ther Nucleic Acids. 2017. PMID: 28624222 Free PMC article.

22

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.

23

Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy.

Gadalla SM, Hilbert JE, Martens WB, Givens S, Moxley RT 3rd, Greene MH. Gadalla SM, et al. Eur J Neurol. 2017 May;24(5):713-718. doi: 10.1111/ene.13276. Epub 2017 Mar 20. Eur J Neurol. 2017. PMID: 28317292 Free PMC article.

24

Trojan triplets: RNA-based pathomechanisms for muscle dysfunction in Huntington's disease.

Skov M, Dirksen RT. Skov M, et al. J Gen Physiol. 2017 Jan;149(1):49-53. doi: 10.1085/jgp.201611728. Epub 2016 Dec 9. J Gen Physiol. 2017. PMID: 27940949 Free PMC article. No abstract available.

25

Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy.

Fitzgerald BP, Conn KM, Smith J, Walker A, Parkhill AL, Hilbert JE, Luebbe EA, Moxley RT III. Fitzgerald BP, et al. J Neurol. 2016 Dec;263(12):2528-2537. doi: 10.1007/s00415-016-8300-3. Epub 2016 Oct 12. J Neurol. 2016. PMID: 27734165 Free PMC article.

26

Genetic biomarkers for the risk of seizures in long QT syndrome.

Auerbach DS, McNitt S, Gross RA, Zareba W, Dirksen RT, Moss AJ. Auerbach DS, et al. Neurology. 2016 Oct 18;87(16):1660-1668. doi: 10.1212/WNL.0000000000003056. Epub 2016 Jul 27. Neurology. 2016. PMID: 27466471 Free PMC article.

27

Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice.

Carrell ST, Carrell EM, Auerbach D, Pandey SK, Bennett CF, Dirksen RT, Thornton CA. Carrell ST, et al. Hum Mol Genet. 2016 Oct 1;25(19):4328-4338. doi: 10.1093/hmg/ddw266. Epub 2016 Aug 13. Hum Mol Genet. 2016. PMID: 27522499 Free PMC article.

28

Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy.

Wagner SD, Struck AJ, Gupta R, Farnsworth DR, Mahady AE, Eichinger K, Thornton CA, Wang ET, Berglund JA. Wagner SD, et al. PLoS Genet. 2016 Sep 28;12(9):e1006316. doi: 10.1371/journal.pgen.1006316. eCollection 2016 Sep. PLoS Genet. 2016. PMID: 27681373 Free PMC article.

29

Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy.

Johnson NE, Ekstrom AB, Campbell C, Hung M, Adams HR, Chen W, Luebbe E, Hilbert J, Moxley RT 3rd, Heatwole CR. Johnson NE, et al. Dev Med Child Neurol. 2016 Jul;58(7):698-705. doi: 10.1111/dmcn.12948. Epub 2015 Oct 28. Dev Med Child Neurol. 2016. PMID: 26510705 Free PMC article.

30

Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks.

Slean MM, Panigrahi GB, Castel AL, Pearson AB, Tomkinson AE, Pearson CE. Slean MM, et al. DNA Repair (Amst). 2016 Jun;42:107-18. doi: 10.1016/j.dnarep.2016.04.002. Epub 2016 Apr 16. DNA Repair (Amst). 2016. PMID: 27155933 Free PMC article.

31

Myotonic dystrophy health index: Correlations with clinical tests and patient function.

Heatwole C, Bode R, Johnson NE, Dekdebrun J, Dilek N, Eichinger K, Hilbert JE, Logigian E, Luebbe E, Martens W, Mcdermott MP, Pandya S, Puwanant A, Rothrock N, Thornton C, Vickrey BG, Victorson D, Moxley RT 3rd. Heatwole C, et al. Muscle Nerve. 2016 Feb;53(2):183-90. doi: 10.1002/mus.24725. Epub 2015 Dec 29. Muscle Nerve. 2016. PMID: 26044513 Free PMC article.

32

Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2).

Heatwole C, Johnson N, Bode R, Dekdebrun J, Dilek N, Hilbert JE, Luebbe E, Martens W, McDermott MP, Quinn C, Rothrock N, Thornton C, Vickrey BG, Victorson D, Moxley RT 3rd. Heatwole C, et al. Neurology. 2015 Dec 15;85(24):2136-46. doi: 10.1212/WNL.0000000000002225. Epub 2015 Nov 18. Neurology. 2015. PMID: 26581301 Free PMC article.

33

Identification and characterization of modified antisense oligonucleotides targeting DMPK in mice and nonhuman primates for the treatment of myotonic dystrophy type 1.

Pandey SK, Wheeler TM, Justice SL, Kim A, Younis HS, Gattis D, Jauvin D, Puymirat J, Swayze EE, Freier SM, Bennett CF, Thornton CA, MacLeod AR. Pandey SK, et al. J Pharmacol Exp Ther. 2015 Nov;355(2):329-40. doi: 10.1124/jpet.115.226969. Epub 2015 Sep 1. J Pharmacol Exp Ther. 2015. PMID: 26330536 Free PMC article.

34

TWEAK/Fn14, a pathway and novel therapeutic target in myotonic dystrophy.

Yadava RS, Foff EP, Yu Q, Gladman JT, Kim YK, Bhatt KS, Thornton CA, Zheng TS, Mahadevan MS. Yadava RS, et al. Hum Mol Genet. 2015 Apr 1;24(7):2035-48. doi: 10.1093/hmg/ddu617. Epub 2014 Dec 11. Hum Mol Genet. 2015. PMID: 25504044 Free PMC article.

35

Short antisense-locked nucleic acids (all-LNAs) correct alternative splicing abnormalities in myotonic dystrophy.

Wojtkowiak-Szlachcic A, Taylor K, Stepniak-Konieczna E, Sznajder LJ, Mykowska A, Sroka J, Thornton CA, Sobczak K. Wojtkowiak-Szlachcic A, et al. Nucleic Acids Res. 2015 Mar 31;43(6):3318-31. doi: 10.1093/nar/gkv163. Epub 2015 Mar 9. Nucleic Acids Res. 2015. PMID: 25753670 Free PMC article.

36

Loss of MBNL leads to disruption of developmentally regulated alternative polyadenylation in RNA-mediated disease.

Batra R, Charizanis K, Manchanda M, Mohan A, Li M, Finn DJ, Goodwin M, Zhang C, Sobczak K, Thornton CA, Swanson MS. Batra R, et al. Mol Cell. 2014 Oct 23;56(2):311-322. doi: 10.1016/j.molcel.2014.08.027. Epub 2014 Sep 25. Mol Cell. 2014. PMID: 25263597 Free PMC article.

37

Myotonic dystrophy.

Thornton CA. Thornton CA. Neurol Clin. 2014 Aug;32(3):705-19, viii. doi: 10.1016/j.ncl.2014.04.011. Epub 2014 Jun 6. Neurol Clin. 2014. PMID: 25037086 Free PMC article. Review.

38

Lomofungin and dilomofungin: inhibitors of MBNL1-CUG RNA binding with distinct cellular effects.

Hoskins JW, Ofori LO, Chen CZ, Kumar A, Sobczak K, Nakamori M, Southall N, Patnaik S, Marugan JJ, Zheng W, Austin CP, Disney MD, Miller BL, Thornton CA. Hoskins JW, et al. Nucleic Acids Res. 2014 Jun;42(10):6591-602. doi: 10.1093/nar/gku275. Epub 2014 May 5. Nucleic Acids Res. 2014. PMID: 24799433 Free PMC article.

39

Myotonic Dystrophy Health Index: initial evaluation of a disease-specific outcome measure.

Heatwole C, Bode R, Johnson N, Dekdebrun J, Dilek N, Heatwole M, Hilbert JE, Luebbe E, Martens W, Mcdermott MP, Rothrock N, Thornton C, Vickrey BG, Victorson D, Moxley R 3rd. Heatwole C, et al. Muscle Nerve. 2014 Jun;49(6):906-14. doi: 10.1002/mus.24097. Muscle Nerve. 2014. PMID: 24142420 Free PMC article.

40

Symptom burden in persons with myotonic and facioscapulohumeral muscular dystrophy.

Smith AE, McMullen K, Jensen MP, Carter GT, Molton IR. Smith AE, et al. Am J Phys Med Rehabil. 2014 May;93(5):387-95. doi: 10.1097/PHM.0000000000000032. Am J Phys Med Rehabil. 2014. PMID: 24247759 Free PMC article.

41

Risk of functional impairment in Facioscapulohumeral muscular dystrophy.

Statland JM, Tawil R. Statland JM, et al. Muscle Nerve. 2014 Apr;49(4):520-7. doi: 10.1002/mus.23949. Epub 2014 Feb 10. Muscle Nerve. 2014. PMID: 23873337

42

Splicing biomarkers of disease severity in myotonic dystrophy.

Nakamori M, Sobczak K, Puwanant A, Welle S, Eichinger K, Pandya S, Dekdebrun J, Heatwole CR, McDermott MP, Chen T, Cline M, Tawil R, Osborne RJ, Wheeler TM, Swanson MS, Moxley RT 3rd, Thornton CA. Nakamori M, et al. Ann Neurol. 2013 Dec;74(6):862-72. doi: 10.1002/ana.23992. Ann Neurol. 2013. PMID: 23929620 Free PMC article.

43

Reducing levels of toxic RNA with small molecules.

Coonrod LA, Nakamori M, Wang W, Carrell S, Hilton CL, Bodner MJ, Siboni RB, Docter AG, Haley MM, Thornton CA, Berglund JA. Coonrod LA, et al. ACS Chem Biol. 2013 Nov 15;8(11):2528-37. doi: 10.1021/cb400431f. Epub 2013 Sep 27. ACS Chem Biol. 2013. PMID: 24028068 Free PMC article.

44

Quantifying cancer absolute risk and cancer mortality in the presence of competing events after a myotonic dystrophy diagnosis.

Gadalla SM, Pfeiffer RM, Kristinsson SY, Björkholm M, Hilbert JE, Moxley RT 3rd, Landgren O, Greene MH. Gadalla SM, et al. PLoS One. 2013 Nov 13;8(11):e79851. doi: 10.1371/journal.pone.0079851. eCollection 2013. PLoS One. 2013. PMID: 24236163 Free PMC article.

45

Features of modularly assembled compounds that impart bioactivity against an RNA target.

Rzuczek SG, Gao Y, Tang ZZ, Thornton CA, Kodadek T, Disney MD. Rzuczek SG, et al. ACS Chem Biol. 2013 Oct 18;8(10):2312-21. doi: 10.1021/cb400265y. Epub 2013 Sep 13. ACS Chem Biol. 2013. PMID: 24032410 Free PMC article.

46

Diagnostic odyssey of patients with myotonic dystrophy.

Hilbert JE, Ashizawa T, Day JW, Luebbe EA, Martens WB, McDermott MP, Tawil R, Thornton CA, Moxley RT 3rd. Hilbert JE, et al. J Neurol. 2013 Oct;260(10):2497-504. doi: 10.1007/s00415-013-6993-0. Epub 2013 Jun 27. J Neurol. 2013. PMID: 23807151 Free PMC article.

47

Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.

Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT 3rd, Toji L. Kalman L, et al. J Mol Diagn. 2013 Jul;15(4):518-25. doi: 10.1016/j.jmoldx.2013.03.008. Epub 2013 May 13. J Mol Diagn. 2013. PMID: 23680132 Free PMC article.

48

Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy.

Statland JM, McDermott MP, Heatwole C, Martens WB, Pandya S, van der Kooi EL, Kissel JT, Wagner KR, Tawil R. Statland JM, et al. Neuromuscul Disord. 2013 Apr;23(4):306-12. doi: 10.1016/j.nmd.2013.01.008. Epub 2013 Feb 11. Neuromuscul Disord. 2013. PMID: 23406877 Free PMC article.

49

RNA interference targeting CUG repeats in a mouse model of myotonic dystrophy.

Sobczak K, Wheeler TM, Wang W, Thornton CA. Sobczak K, et al. Mol Ther. 2013 Feb;21(2):380-7. doi: 10.1038/mt.2012.222. Epub 2012 Nov 27. Mol Ther. 2013. PMID: 23183533 Free PMC article.

50

Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules.

Childs-Disney JL, Stepniak-Konieczna E, Tran T, Yildirim I, Park H, Chen CZ, Hoskins J, Southall N, Marugan JJ, Patnaik S, Zheng W, Austin CP, Schatz GC, Sobczak K, Thornton CA, Disney MD. Childs-Disney JL, et al. Nat Commun. 2013;4:2044. doi: 10.1038/ncomms3044. Nat Commun. 2013. PMID: 23806903 Free PMC article.

51

Rational design of bioactive, modularly assembled aminoglycosides targeting the RNA that causes myotonic dystrophy type 1.

Childs-Disney JL, Parkesh R, Nakamori M, Thornton CA, Disney MD. Childs-Disney JL, et al. ACS Chem Biol. 2012 Dec 21;7(12):1984-93. doi: 10.1021/cb3001606. Epub 2012 Nov 7. ACS Chem Biol. 2012. PMID: 23130637 Free PMC article.

52

Human mismatch repair protein hMutLα is required to repair short slipped-DNAs of trinucleotide repeats.

Panigrahi GB, Slean MM, Simard JP, Pearson CE. Panigrahi GB, et al. J Biol Chem. 2012 Dec 7;287(50):41844-50. doi: 10.1074/jbc.M112.420398. Epub 2012 Oct 18. J Biol Chem. 2012. PMID: 23086927 Free PMC article.

53

Unintended effects of orphan product designation for rare neurological diseases.

Murphy SM, Puwanant A, Griggs RC; Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) and Inherited Neuropathies Consortium (INC) Consortia of the Rare Disease Clinical Research Network. Murphy SM, et al. Ann Neurol. 2012 Oct;72(4):481-90. doi: 10.1002/ana.23672. Ann Neurol. 2012. PMID: 23109143 Free PMC article. Review.

54

Correlates of tumor development in patients with myotonic dystrophy.

Das M, Moxley RT 3rd, Hilbert JE, Martens WB, Letren L, Greene MH, Gadalla SM. Das M, et al. J Neurol. 2012 Oct;259(10):2161-6. doi: 10.1007/s00415-012-6476-8. Epub 2012 May 23. J Neurol. 2012. PMID: 22619053 Free PMC article.

55

Targeting nuclear RNA for in vivo correction of myotonic dystrophy.

Wheeler TM, Leger AJ, Pandey SK, MacLeod AR, Nakamori M, Cheng SH, Wentworth BM, Bennett CF, Thornton CA. Wheeler TM, et al. Nature. 2012 Aug 2;488(7409):111-5. doi: 10.1038/nature11362. Nature. 2012. PMID: 22859208 Free PMC article.

56

Rationally designed small molecules targeting the RNA that causes myotonic dystrophy type 1 are potently bioactive.

Childs-Disney JL, Hoskins J, Rzuczek SG, Thornton CA, Disney MD. Childs-Disney JL, et al. ACS Chem Biol. 2012 May 18;7(5):856-62. doi: 10.1021/cb200408a. Epub 2012 Mar 5. ACS Chem Biol. 2012. PMID: 22332923 Free PMC article.

57

The nucleotide sequence, DNA damage location, and protein stoichiometry influence the base excision repair outcome at CAG/CTG repeats.

Goula AV, Pearson CE, Della Maria J, Trottier Y, Tomkinson AE, Wilson DM 3rd, Merienne K. Goula AV, et al. Biochemistry. 2012 May 8;51(18):3919-32. doi: 10.1021/bi300410d. Epub 2012 Apr 23. Biochemistry. 2012. PMID: 22497302 Free PMC article.

58

Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel.

Tang ZZ, Yarotskyy V, Wei L, Sobczak K, Nakamori M, Eichinger K, Moxley RT, Dirksen RT, Thornton CA. Tang ZZ, et al. Hum Mol Genet. 2012 Mar 15;21(6):1312-24. doi: 10.1093/hmg/ddr568. Epub 2011 Dec 2. Hum Mol Genet. 2012. PMID: 22140091 Free PMC article.

59

If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).

Hilbert JE, Kissel JT, Luebbe EA, Martens WB, McDermott MP, Sanders DB, Tawil R, Thornton CA, Moxley RT 3rd; Registry Scientific Advisory Committee. Hilbert JE, et al. Contemp Clin Trials. 2012 Mar;33(2):302-11. doi: 10.1016/j.cct.2011.11.016. Epub 2011 Nov 26. Contemp Clin Trials. 2012. PMID: 22155025 Free PMC article.

60

Two high-throughput screening assays for aberrant RNA-protein interactions in myotonic dystrophy type 1.

Chen CZ, Sobczak K, Hoskins J, Southall N, Marugan JJ, Zheng W, Thornton CA, Austin CP. Chen CZ, et al. Anal Bioanal Chem. 2012 Feb;402(5):1889-98. doi: 10.1007/s00216-011-5604-0. Epub 2012 Jan 5. Anal Bioanal Chem. 2012. PMID: 22218462 Free PMC article.

61

Cancer risk among patients with myotonic muscular dystrophy.

Gadalla SM, Lund M, Pfeiffer RM, Gørtz S, Mueller CM, Moxley RT 3rd, Kristinsson SY, Björkholm M, Shebl FM, Hilbert JE, Landgren O, Wohlfahrt J, Melbye M, Greene MH. Gadalla SM, et al. JAMA. 2011 Dec 14;306(22):2480-6. doi: 10.1001/jama.2011.1796. JAMA. 2011. PMID: 22166607 Free PMC article.

62

Stabilization of expanded (CTG)•(CAG) repeats by antisense oligonucleotides.

Nakamori M, Gourdon G, Thornton CA. Nakamori M, et al. Mol Ther. 2011 Dec;19(12):2222-7. doi: 10.1038/mt.2011.191. Epub 2011 Oct 4. Mol Ther. 2011. PMID: 21971425 Free PMC article.

63

Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues.

Axford MM, López-Castel A, Nakamori M, Thornton CA, Pearson CE. Axford MM, et al. J Med Genet. 2011 Jul;48(7):438-43. doi: 10.1136/jmg.2010.085944. Epub 2011 May 27. J Med Genet. 2011. PMID: 21622935 Free PMC article.

64

Identification of restriction endonucleases sensitive to 5-cytosine methylation at non-CpG sites, including expanded (CAG)n/(CTG)n repeats.

López Castel A, Nakamori M, Thornton CA, Pearson CE. López Castel A, et al. Epigenetics. 2011 Apr;6(4):416-20. doi: 10.4161/epi.6.4.14953. Epub 2011 Apr 1. Epigenetics. 2011. PMID: 21364324 Free PMC article.

65

Developments in RNA splicing and disease.

Poulos MG, Batra R, Charizanis K, Swanson MS. Poulos MG, et al. Cold Spring Harb Perspect Biol. 2011 Jan 1;3(1):a000778. doi: 10.1101/cshperspect.a000778. Cold Spring Harb Perspect Biol. 2011. PMID: 21084389 Free PMC article. Review.

66

Open-label trial of recombinant human insulin-like growth factor 1/recombinant human insulin-like growth factor binding protein 3 in myotonic dystrophy type 1.

Heatwole CR, Eichinger KJ, Friedman DI, Hilbert JE, Jackson CE, Logigian EL, Martens WB, McDermott MP, Pandya SK, Quinn C, Smirnow AM, Thornton CA, Moxley RT 3rd. Heatwole CR, et al. Arch Neurol. 2011 Jan;68(1):37-44. doi: 10.1001/archneurol.2010.227. Epub 2010 Sep 13. Arch Neurol. 2011. PMID: 20837825 Free PMC article. Clinical Trial.

67

FSHD: a repeat contraction disease finally ready to expand (our understanding of its pathogenesis).

Pearson CE. Pearson CE. PLoS Genet. 2010 Oct 28;6(10):e1001180. doi: 10.1371/journal.pgen.1001180. PLoS Genet. 2010. PMID: 21060814 Free PMC article. No abstract available.

68

Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSbeta, but clustered slip-outs are poorly repaired.

Panigrahi GB, Slean MM, Simard JP, Gileadi O, Pearson CE. Panigrahi GB, et al. Proc Natl Acad Sci U S A. 2010 Jul 13;107(28):12593-8. doi: 10.1073/pnas.0909087107. Epub 2010 Jun 22. Proc Natl Acad Sci U S A. 2010. PMID: 20571119 Free PMC article.

69

Epigenetic changes and non-coding expanded repeats.

Nakamori M, Thornton C. Nakamori M, et al. Neurobiol Dis. 2010 Jul;39(1):21-7. doi: 10.1016/j.nbd.2010.02.004. Epub 2010 Feb 18. Neurobiol Dis. 2010. PMID: 20171282 Free PMC article. Review.

70

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy.

Du H, Cline MS, Osborne RJ, Tuttle DL, Clark TA, Donohue JP, Hall MP, Shiue L, Swanson MS, Thornton CA, Ares M Jr. Du H, et al. Nat Struct Mol Biol. 2010 Feb;17(2):187-93. doi: 10.1038/nsmb.1720. Epub 2010 Jan 24. Nat Struct Mol Biol. 2010. PMID: 20098426 Free PMC article.

71

Evoked myotonia can be "dialed-up" by increasing stimulus train length in myotonic dystrophy type 1.

Logigian EL, Twydell P, Dilek N, Martens WB, Quinn C, Wiegner AW, Heatwole CR, Thornton CA, Moxley RT 3rd. Logigian EL, et al. Muscle Nerve. 2010 Feb;41(2):191-6. doi: 10.1002/mus.21481. Muscle Nerve. 2010. PMID: 19750543 Free PMC article.

72

Pathogenic RNAs in microsatellite expansion disease.

Shin J, Charizanis K, Swanson MS. Shin J, et al. Neurosci Lett. 2009 Dec 4;466(2):99-102. doi: 10.1016/j.neulet.2009.07.079. Epub 2009 Aug 4. Neurosci Lett. 2009. PMID: 19647781 Free PMC article. Review.

73

Hypothesis: neoplasms in myotonic dystrophy.

Mueller CM, Hilbert JE, Martens W, Thornton CA, Moxley RT 3rd, Greene MH. Mueller CM, et al. Cancer Causes Control. 2009 Dec;20(10):2009-20. doi: 10.1007/s10552-009-9395-y. Cancer Causes Control. 2009. PMID: 19642006 Free PMC article. Review.

74

Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2.

Nakamori M, Sobczak K, Moxley RT 3rd, Thornton CA. Nakamori M, et al. Neuromuscul Disord. 2009 Nov;19(11):759-62. doi: 10.1016/j.nmd.2009.07.012. Epub 2009 Aug 26. Neuromuscul Disord. 2009. PMID: 19713112 Free PMC article.

75

Rational design of ligands targeting triplet repeating transcripts that cause RNA dominant disease: application to myotonic muscular dystrophy type 1 and spinocerebellar ataxia type 3.

Pushechnikov A, Lee MM, Childs-Disney JL, Sobczak K, French JM, Thornton CA, Disney MD. Pushechnikov A, et al. J Am Chem Soc. 2009 Jul 22;131(28):9767-79. doi: 10.1021/ja9020149. J Am Chem Soc. 2009. PMID: 19552411 Free PMC article.

76

Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA.

Wheeler TM, Sobczak K, Lueck JD, Osborne RJ, Lin X, Dirksen RT, Thornton CA. Wheeler TM, et al. Science. 2009 Jul 17;325(5938):336-9. doi: 10.1126/science.1173110. Science. 2009. PMID: 19608921 Free PMC article.

77

Dynamic combinatorial selection of molecules capable of inhibiting the (CUG) repeat RNA-MBNL1 interaction in vitro: discovery of lead compounds targeting myotonic dystrophy (DM1).

Gareiss PC, Sobczak K, McNaughton BR, Palde PB, Thornton CA, Miller BL. Gareiss PC, et al. J Am Chem Soc. 2008 Dec 3;130(48):16254-61. doi: 10.1021/ja804398y. J Am Chem Soc. 2008. PMID: 18998634 Free PMC article.

78

Cell-free cloning of highly expanded CTG repeats by amplification of dimerized expanded repeats.

Osborne RJ, Thornton CA. Osborne RJ, et al. Nucleic Acids Res. 2008 Mar;36(4):e24. doi: 10.1093/nar/gkn025. Epub 2008 Feb 7. Nucleic Acids Res. 2008. PMID: 18263610 Free PMC article.

79

Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy.

Wheeler TM, Lueck JD, Swanson MS, Dirksen RT, Thornton CA. Wheeler TM, et al. J Clin Invest. 2007 Dec;117(12):3952-7. doi: 10.1172/JCI33355. J Clin Invest. 2007. PMID: 18008009 Free PMC article.

80

Ribonuclear foci at the neuromuscular junction in myotonic dystrophy type 1.

Wheeler TM, Krym MC, Thornton CA. Wheeler TM, et al. Neuromuscul Disord. 2007 Mar;17(3):242-7. doi: 10.1016/j.nmd.2006.12.015. Epub 2007 Feb 15. Neuromuscul Disord. 2007. PMID: 17306536 Free PMC article.

81

Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs.

Yuan Y, Compton SA, Sobczak K, Stenberg MG, Thornton CA, Griffith JD, Swanson MS. Yuan Y, et al. Nucleic Acids Res. 2007;35(16):5474-86. doi: 10.1093/nar/gkm601. Epub 2007 Aug 15. Nucleic Acids Res. 2007. PMID: 17702765 Free PMC article.

82

Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy.

Kanadia RN, Shin J, Yuan Y, Beattie SG, Wheeler TM, Thornton CA, Swanson MS. Kanadia RN, et al. Proc Natl Acad Sci U S A. 2006 Aug 1;103(31):11748-53. doi: 10.1073/pnas.0604970103. Epub 2006 Jul 24. Proc Natl Acad Sci U S A. 2006. PMID: 16864772 Free PMC article.

83

Muscleblind proteins regulate alternative splicing.

Ho TH, Charlet-B N, Poulos MG, Singh G, Swanson MS, Cooper TA. Ho TH, et al. EMBO J. 2004 Aug 4;23(15):3103-12. doi: 10.1038/sj.emboj.7600300. Epub 2004 Jul 15. EMBO J. 2004. PMID: 15257297 Free PMC article.

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