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Publications from Thornton Lab

1. Kwan TT
2. Meng Q
3. Santos ND
4. Johnson N
5. Thornton C
6. Malecova B
7. Burke R
8. Tai LJ
9. Levin AA
10. Younis HS
11. Flanagan WM
12. Zhu Y
Delpacibart Etedesiran Improves the Molecular Pathology of Myotonic Dystrophy Type 1 in the Phase 1/2 MARINA® Study.; Molecular therapy : the journal of the American Society of Gene Therapy. 2026 Mar 11.
1. Leeuwenberg KE
2. Sansone VA
3. Hamel J
4. Hung M
5. Dekdebrun JM
6. Lizio A
7. Eichinger K
8. Gagnon C
9. Roxburgh RH
10. Subramony SH
11. Statland JM
12. Elsheikh BH
13. Turner C
14. Matthews EL
15. Ragole TE
16. Sampson JB
17. Schoser B
18. Takahashi MP
19. Wicklund MP
20. Swenson AJ
21. Laverty CG
22. Shieh PB
23. Greene EP
24. Raymond J
25. DeSpain E
26. Thornton CA
27. Mul K
28. Johnson NE
Prospective Study of Video Hand Opening Time as a Quantitative Measurement of Myotonia in Patients With Myotonic Dystrophy Type 1.; Neurology; Vol 106(7), pp. e214747. 2026 Feb 26.
1. Johnson NE
2. Tai LJ
3. Hamel JI
4. Day JW
5. Statland JM
6. Soltanzadeh P
7. Subramony SH
8. Thornton CA
9. Arnold WD
10. Wicklund M
11. Freimer ML
12. Eichinger K
13. Dekdebrun J
14. Chen CY
15. Goel V
16. McEvoy B
17. Zhu Y
18. Hughes SG
19. Ackermann EJ
20. Levin AA
An Antibody-Oligonucleotide Conjugate for Myotonic Dystrophy Type 1.; The New England journal of medicine; Vol 394(8), pp. 763-772. 2026 Feb 19.
1. Mul K
2. Eichinger K
3. Hung M
4. Sansone VA
5. Gagnon C
6. Subramony S
7. Roxburgh RH
8. Hamel J
9. Statland JM
10. Elsheikh B
11. Turner C
12. Sampson J
13. Ragole T
14. Matthews E
15. Schoser B
16. Swenson A
17. Laverty C
18. Shieh P
19. Greene EP
20. Takahashi M
21. Wicklund M
22. Dekdebrun J
23. Raymond J
24. DeSpain E
25. Thornton CA
26. Johnson NE
Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history study.; PloS one; Vol 20(12), pp. e0331163. 2025 Dec 11.
1. Sipple MT
2. Hamazaki S
3. Todorow V
4. Cisco LA
5. Lupia KM
6. Heil CS
7. Meinke P
8. Thornton CA
9. Lueck JD
Elimination of myotonia improves myopathy in a muscleblind knockout model of myotonic dystrophy.; bioRxiv : the preprint server for biology. 2025 Sep 21.
1. Heatwole CR
2. Luebbe E
3. Hamel J
4. Mongiovi PC
5. Ciafaloni E
6. Dilek N
7. Martens WB
8. Weber DR
9. Rashid H
10. Allen McKeown J
11. Smith CH
12. Howell S
13. Rosero SZ
14. Eichinger K
15. Baker LS
16. Dekdebrun JM
17. Hilbert JE
18. Varma A
19. Thornton CA
20. McDermott MP
21. Moxley RT
Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular Dystrophy.; Neurology. Genetics; Vol 11(5), pp. e200292. 2025 Aug 27.
1. Weeden T
2. Picariello T
3. Quinn B
4. Spring S
5. Shen PY
6. Qiu Q
7. Vieira BF
8. Schlaefke L
9. Russo RJ
10. Chang YA
11. Cui J
12. Yao M
13. Wen A
14. Hsia N
15. Evron T
16. Ovington K
17. Tsai PN
18. Yoder N
19. Lan B
20. Venkatesan R
21. Hall J
22. Desjardins CA
23. Qatanani M
24. Hilderbrand S
25. Najim J
26. Tang Z
27. Tanner MK
28. Subramanian R
29. Thornton CA
30. Ibraghimov-Beskrovnaya O
31. Zanotti S
FORCE platform overcomes barriers of oligonucleotide delivery to muscle and corrects myotonic dystrophy features in preclinical models.; Communications medicine; Vol 5(1), pp. 22. 2025 Jan 18.
1. Provenzano M
2. Ikegami K
3. Bates K
4. Gaynor A
5. Hartman JM
6. Jones AS
7. Butler A
8. Berggren KN
9. Dekdebrun J
10. Hung M
11. Lapato DM
12. Kiefer M
13. Thornton CA
14. Johnson NE
15. Hale MA
The Splice Index as a prognostic biomarker of strength and function in myotonic dystrophy type 1.; The Journal of clinical investigation. 2025 Jan 07.
1. Cisco LA
2. Sipple MT
3. Edwards KM
4. Thornton CA
5. Lueck JD
Verapamil mitigates chloride and calcium bi-channelopathy in a myotonic dystrophy mouse model.; The Journal of clinical investigation; Vol 134(1). 2024 Jan 02.
1. Cisco LA
2. Sipple MT
3. Edwards KM
4. Thornton CA
5. Lueck JD
Combinatorial chloride and calcium channelopathy in myotonic dystrophy.; bioRxiv : the preprint server for biology. 2023 Jun 01.
1. Thornton CA
2. Moxley RT
3. Eichinger K
4. Heatwole C
5. Mignon L
6. Arnold WD
7. Ashizawa T
8. Day JW
9. Dent G
10. Tanner MK
11. Duong T
12. Greene EP
13. Herbelin L
14. Johnson NE
15. King W
16. Kissel JT
17. Leung DG
18. Lott DJ
19. Norris DA
20. Pucillo EM
21. Schell W
22. Statland JM
23. Stinson N
24. Subramony SH
25. Xia S
26. Bishop KM
27. Bennett CF
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.; The Lancet. Neurology; Vol 22(3), pp. 218-228. 2023 Mar.
1. Hamel JI
2. McDermott MP
3. Hilbert JE
4. Martens WB
5. Luebbe E
6. Tawil R
7. Moxley RT
8. Thornton CA
Milestones of progression in myotonic dystrophy type 1 and type 2.; Muscle & nerve. 2022 Jul 01.
1. Mackenzie SJ
2. Hamel J
3. Thornton CA
Benefits of aerobic exercise in myotonic dystrophy type 1.; The Journal of clinical investigation; Vol 132(10). 2022 May 16.
1. Hamel J
2. Creigh PD
3. Dekdebrun J
4. Eichinger K
5. Thornton CA
Remote Assessment of Myotonic Dystrophy Type 1: A Feasibility Study.; Muscle & nerve. 2022 Apr 15.
1. Deutsch GK
2. Hagerman KA
3. Sampson J
4. Dent G
5. Dekdebrun J
6. Parker DM
7. Thornton CA
8. Heatwole CR
9. Subramony SH
10. Mankodi AK
11. Ashizawa T
12. Statland JM
13. Arnold WD
14. Moxley RT
15. Day JW
Brief assessment of cognitive function in myotonic dystrophy: multicenter longitudinal study using computer-assisted evaluation.; Muscle & nerve. 2022 Feb 18.
1. Tanner MK
2. Tang Z
3. Thornton CA
Targeted splice sequencing reveals RNA toxicity and therapeutic response in myotonic dystrophy.; Nucleic acids research. 2021 Jan 27.
1. Otero BA
2. Poukalov K
3. Hildebrandt RP
4. Thornton CA
5. Jinnai K
6. Fujimura H
7. Kimura T
8. Hagerman KA
9. Sampson JB
10. Day JW
11. Wang ET
Transcriptome alterations in myotonic dystrophy frontal cortex.; Cell reports; Vol 34(3). 2021 Jan 19.
1. Chambers M
2. Rees A
3. Cronin JG
4. Nair M
5. Jones N
6. Thornton CA
Macrophage Plasticity in Reproduction and Environmental Influences on Their Function.; Frontiers in immunology; Vol 11, pp. 607328. 2021 Jan 14.
1. Angelbello AJ
2. Benhamou RI
3. Rzuczek SG
4. Choudhary S
5. Tang Z
6. Chen JL
7. Roy M
8. Wang KW
9. Yildirim I
10. Jun AS
11. Thornton CA
12. Disney MD
A Small Molecule that Binds an RNA Repeat Expansion Stimulates Its Decay via the Exosome Complex.; Cell chemical biology. 2020 Nov 05.
1. Heatwole C
2. Luebbe E
3. Rosero S
4. Eichinger K
5. Martens W
6. Hilbert J
7. Dekdebrun J
8. Dilek N
9. Zizzi C
10. Johnson N
11. Puwanant A
12. Tawil R
13. Schifitto G
14. Beck CA
15. Richeson JF
16. Zareba W
17. Thornton C
18. McDermott MP
19. Moxley R
Mexiletine in myotonic dystrophy type-1: A randomized, double-blind, placebo-controlled trial.; Neurology. 2020 Oct 12.
1. Ketley A
2. Wojciechowska M
3. Ghidelli-Disse S
4. Bamborough P
5. Ghosh TK
6. Morato ML
7. Sedehizadeh S
8. Malik NA
9. Tang Z
10. Powalowska P
11. Tanner M
12. Billeter-Clark R
13. Trueman RC
14. Geiszler PC
15. Agostini A
16. Othman O
17. Bösche M
18. Bantscheff M
19. Rüdiger M
20. Mossakowska DE
21. Drewry DH
22. Zuercher WJ
23. Thornton CA
24. Drewes G
25. Uings I
26. Hayes CJ
27. Brook JD
CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model.; Science translational medicine; Vol 12(541). 2020 Apr 29.
1. Tylock KM
2. Auerbach DS
3. Tang ZZ
4. Thornton CA
5. Dirksen RT
Biophysical mechanisms for QRS- and QTc-interval prolongation in mice with cardiac expression of expanded CUG-repeat RNA.; The Journal of general physiology; Vol 152(2). 2020 Feb 03.
1. Kurkiewicz A
2. Cooper A
3. McIlwaine E
4. Cumming SA
5. Adam B
6. Krahe R
7. Puymirat J
8. Schoser B
9. Timchenko L
10. Ashizawa T
11. Thornton CA
12. Rogers S
13. McClure JD
14. Monckton DG
Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial.; PloS one; Vol 15(4). 2020.
1. Schoser B
2. Montagnese F
3. Bassez G
4. Fossati B
5. Gamez J
6. Heatwole C
7. Hilbert J
8. Kornblum C
9. Kostera-Pruszczyk A
10. Krahe R
11. Lusakowska A
12. Meola G
13. Moxley R
14. Thornton C
15. Udd B
16. Formaker P
Consensus-based care recommendations for adults with myotonic dystrophy type 2.; Neurology. Clinical practice; Vol 9(4). 2019 Aug.
1. Wang ET
2. Treacy D
3. Eichinger K
4. Struck A
5. Estabrook J
6. Olafson H
7. Wang TT
8. Bhatt K
9. Westbrook T
10. Sedehizadeh S
11. Ward A
12. Day J
13. Brook D
14. Berglund JA
15. Cooper T
16. Housman D
17. Thornton C
18. Burge C
Transcriptome alterations in myotonic dystrophy skeletal muscle and heart.; Human molecular genetics. 2018 Dec 17.
1. Hilbert JE
2. Thornton CA
3. Moxley RT
Author response: High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2.; Neurology; Vol 90(17). 2018 Apr 24.
1. Sznajder ŁJ
2. Thomas JD
3. Carrell EM
4. Reid T
5. McFarland KN
6. Cleary JD
7. Oliveira R
8. Nutter CA
9. Bhatt K
10. Sobczak K
11. Ashizawa T
12. Thornton CA
13. Ranum LPW
14. Swanson MS
Intron retention induced by microsatellite expansions as a disease biomarker.; Proceedings of the National Academy of Sciences of the United States of America. 2018 Apr 02.
1. Thadke S
2. Perera JDR
3. Hridya VM
4. Bhatt K
5. Shaikh AY
6. Hsieh WC
7. Chen MD
8. Gayathri C
9. Gil RR
10. Rule GS
11. Mukherjee A
12. Thornton CA
13. Ly DH
Design of Bivalent Nucleic Acid Ligands for Recognition of RNA-Repeated Expansion Associated with Huntington's Disease.; Biochemistry. 2018 Mar 21.
1. Hsieh WC
2. Bahal R
3. Thadke S
4. Bhatt K
5. Sobczak K
6. Thornton CA
7. Ly DH
Design of 'Mini' Nucleic Acid Probe for Cooperative Binding of RNA-Repeated Transcript Associated with Myotonic Dystrophy Type 1.; Biochemistry. 2018 Jan 15.
1. Heatwole C
2. Johnson N
3. Dekdebrun J
4. Dilek N
5. Eichinger K
6. Hilbert J
7. Luebbe E
8. Martens W
9. McDermott MP
10. Thornton C
11. Moxley R
Myotonic Dystrophy Patient Preferences in Patient-Reported Outcome Measures.; Muscle & nerve. 2018 Jan 12.
1. Carrell ST
2. Tang Z
3. Mohr S
4. Lambowitz AM
5. Thornton CA
Detection of expanded RNA repeats using thermostable group II intron reverse transcriptase.; Nucleic acids research. 2017 Oct 03.
1. Hilbert JE
2. Barohn RJ
3. Clemens PR
4. Luebbe EA
5. Martens WB
6. McDermott MP
7. Parkhill AL
8. Tawil R
9. Thornton CA
10. Moxley RT
High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2.; Neurology. 2017 Aug 30.
1. Hesterlee S
2. Amur S
3. Bain LJ
4. Carulli J
5. Clarke S
6. Day JW
7. Gagnon C
8. Hagerman K
9. Heatwole C
10. Johnson NE
11. Moxley R
12. Patel N
13. Thornton C
14. Kessel W
15. White M
Patient-Centered Therapy Development for Myotonic Dystrophy: Report of the Myotonic Dystrophy Foundation-Sponsored Workshop.; Therapeutic innovation & regulatory science; Vol 51(4). 2017 Jul.
1. Jauvin D
2. Chrétien J
3. Pandey SK
4. Martineau L
5. Revillod L
6. Bassez G
7. Lachon A
8. McLeod AR
9. Gourdon G
10. Wheeler TM
11. Thornton CA
12. Bennett CF
13. Puymirat J
Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice.; Molecular therapy. Nucleic acids; Vol 7. 2017 Jun 16.
1. Thornton CA
2. Wang E
3. Carrell EM
Myotonic dystrophy: approach to therapy.; Current opinion in genetics & development; Vol 44. 2017 Apr 01.
1. Wagner SD
2. Struck AJ
3. Gupta R
4. Farnsworth DR
5. Mahady AE
6. Eichinger K
7. Thornton CA
8. Wang ET
9. Berglund JA
Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy.; PLoS genetics; Vol 12(9). 2016 Sep.
1. Carrell ST
2. Carrell EM
3. Auerbach D
4. Pandey SK
5. Bennett CF
6. Dirksen RT
7. Thornton CA
Dmpk Gene Deletion or Antisense Knockdown Does Not Compromise Cardiac or Skeletal Muscle Function in Mice.; Human molecular genetics. 2016 Aug 13.
1. Burns TM
2. Smith GA
3. Allen JA
4. Amato AA
5. Arnold WD
6. Barohn R
7. Benatar M
8. Bird SJ
9. Bromberg M
10. Chahin N
11. Ciafaloni E
12. Cohen JA
13. Corse A
14. Crum BA
15. David WS
16. Dimberg E
17. De Sousa EA
18. Donofrio PD
19. Dyck PJ
20. Engel AG
21. Ensrud ER
22. Ferrante M
23. Freimer M
24. Gable KL
25. Gibson S
26. Gilchrist JM
27. Goldstein JM
28. Gooch CL
29. Goodman BP
30. Gorelov D
31. Gospe SM
32. Goyal NA
33. Guidon AC
34. Guptill JT
35. Gutmann L
36. Gutmann L
37. Gwathmey K
38. Harati Y
39. Harper CM
40. Hehir MK
41. Hobson-Webb LD
42. Howard JF
43. Jackson CE
44. Johnson N
45. Jones SM
46. Juel VC
47. Kaminski HJ
48. Karam C
49. Kennelly KD
50. Khella S
51. Khoury J
52. Kincaid JC
53. Kissel JT
54. Kolb N
55. Lacomis D
56. Ladha S
57. Larriviere D
58. Lewis RA
59. Li Y
60. Litchy WJ
61. Logigian E
62. Lou JS
63. MacGowen DJ
64. Maselli R
65. Massey JM
66. Mauermann ML
67. Mathews KD
68. Meriggioli MN
69. Miller RG
70. Moon JS
71. Mozaffar T
72. Nations SP
73. Nowak RJ
74. Ostrow LW
75. Pascuzzi RM
76. Peltier A
77. Ruzhansky K
78. Richman DP
79. Ross MA
80. Rubin DI
81. Russell JA
82. Sachs GM
83. Salajegheh MK
84. Saperstein DS
85. Scelsa S
86. Selcen D
87. Shaibani A
88. Sheih PB
89. Silvestri NJ
90. Singleton JR
91. Smith BE
92. So YT
93. Solorzano G
94. Sorenson EJ
95. Srinivasen J
96. Tavee J
97. Tawil R
98. Thaisetthawatkul P
99. Thornton C
100. Trivedi J
101. Vernino S
102. Wang AK
103. Webb TA
104. Weiss MD
105. Windebank AJ
106. Wolfe GI
Editorial by concerned physicians: Unintended effect of the Orphan Drug Act on the potential cost of 3,4-diaminopyridine.; Muscle & nerve. 2015 Dec 10.
1. Heatwole C
2. Johnson N
3. Bode R
4. Dekdebrun J
5. Dilek N
6. Hilbert JE
7. Luebbe E
8. Martens W
9. McDermott MP
10. Quinn C
11. Rothrock N
12. Thornton C
13. Vickrey BG
14. Victorson D
15. Moxley RT
Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2).; Neurology. 2015 Nov 18.
1. Pandey SK
2. Wheeler TM
3. Justice SL
4. Kim A
5. Younis HS
6. Gattis D
7. Jauvin D
8. Puymirat J
9. Swayze EE
10. Freier SM
11. Bennett CF
12. Thornton CA
13. MacLeod AR
Identification and Characterization of Modified Antisense Oligonucleotides Targeting DMPK in Mice and Nonhuman Primates for the Treatment of Myotonic Dystrophy Type 1.; The Journal of pharmacology and experimental therapeutics; Vol 355(2). 2015 Nov.
1. Heatwole C
2. Bode R
3. Nicholas Johnson
4. Dekdebrun J
5. Dilek N
6. Eichinger K
7. Hilbert JE
8. Logigian E
9. Luebbe E
10. Martens W
11. McDermott MP
12. Pandya S
13. Puwanant A
14. Rothrock N
15. Thornton C
16. Vickrey BG
17. Victorson D
18. Moxley RT
The myotonic dystrophy health index: Correlations with clinical tests and patient function.; Muscle & nerve. 2015 Jun 4.
1. Yadava RS
2. Foff EP
3. Yu Q
4. Gladman JT
5. Kim YK
6. Bhatt KS
7. Thornton CA
8. Zheng TS
9. Mahadevan MS
TWEAK/Fn14, a pathway and novel therapeutic target in myotonic dystrophy.; Human molecular genetics; Vol 24(7). 2015 Apr 01.
1. Wojtkowiak-Szlachcic A
2. Taylor K
3. Stepniak-Konieczna E
4. Sznajder LJ
5. Mykowska A
6. Sroka J
7. Thornton CA
8. Sobczak K
Short antisense-locked nucleic acids (all-LNAs) correct alternative splicing abnormalities in myotonic dystrophy.; Nucleic acids research; Vol 43(6). 2015 Mar 31.
1. Batra R
2. Charizanis K
3. Manchanda M
4. Mohan A
5. Li M
6. Finn DJ
7. Goodwin M
8. Zhang C
9. Sobczak K
10. Thornton CA
11. Swanson MS
Loss of MBNL Leads to Disruption of Developmentally Regulated Alternative Polyadenylation in RNA-Mediated Disease.; Molecular cell. 2014 Sep 24.
1. Thornton CA
Myotonic Dystrophy.; Neurologic clinics; Vol 32(3). 2014 Aug.
1. Heatwole C
2. Bode R
3. Johnson N
4. Dekdebrun J
5. Dilek N
6. Heatwole M
7. Hilbert JE
8. Luebbe E
9. Martens W
10. Mcdermott MP
11. Rothrock N
12. Thornton C
13. Vickrey BG
14. Victorson D
15. Moxley R
Myotonic Dystrophy Health Index: initial evaluation of a disease-specific outcome measure.; Muscle & nerve; Vol 49(6). 2014 Jun.
1. Hoskins JW
2. Ofori LO
3. Chen CZ
4. Kumar A
5. Sobczak K
6. Nakamori M
7. Southall N
8. Patnaik S
9. Marugan JJ
10. Zheng W
11. Austin CP
12. Disney MD
13. Miller BL
14. Thornton CA
Lomofungin and dilomofungin: inhibitors of MBNL1-CUG RNA binding with distinct cellular effects.; Nucleic acids research; Vol 42(10). 2014 Jun.
1. Nakamori M
2. Sobczak K
3. Puwanant A
4. Welle S
5. Eichinger K
6. Pandya S
7. Dekdebrun J
8. Heatwole CR
9. McDermott MP
10. Chen T
11. Cline M
12. Tawil R
13. Osborne RJ
14. Wheeler TM
15. Swanson MS
16. Moxley RT
17. Thornton CA
Splicing biomarkers of disease severity in myotonic dystrophy.; Annals of neurology; Vol 74(6). 2013 Dec.
1. Axford MM
2. Wang YH
3. Nakamori M
4. Zannis-Hadjopoulos M
5. Thornton CA
6. Pearson CE
Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues.; PLoS genetics; Vol 9(12). 2013 Dec.
1. Coonrod LA
2. Nakamori M
3. Wang W
4. Carrell S
5. Hilton CL
6. Bodner MJ
7. Siboni RB
8. Docter AG
9. Haley MM
10. Thornton CA
11. Berglund JA
Reducing levels of toxic RNA with small molecules.; ACS chemical biology; Vol 8(11). 2013 Nov 15.