Publications

• 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.
• 1. Rzuczek SG
  2. Gao Y
  3. Tang ZZ
  4. Thornton CA
  5. Kodadek T
  6. Disney MD
  Features of modularly assembled compounds that impart bioactivity against an RNA target.; ACS chemical biology; Vol 8(10). 2013 Oct 18.
• 1. Sobczak K
  2. Wheeler TM
  3. Wang W
  4. Thornton CA
  RNA interference targeting CUG repeats in a mouse model of myotonic dystrophy.; Molecular therapy : the journal of the American Society of Gene Therapy; Vol 21(2). 2013 Feb.
• 1. Childs-Disney JL
  2. Stepniak-Konieczna E
  3. Tran T
  4. Yildirim I
  5. Park H
  6. Chen CZ
  7. Hoskins J
  8. Southall N
  9. Marugan JJ
  10. Patnaik S
  11. Zheng W
  12. Austin CP
  13. Schatz GC
  14. Sobczak K
  15. Thornton CA
  16. Disney MD
  Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules.; Nature communications; Vol 4. 2013.
• 1. Childs-Disney JL
  2. Parkesh R
  3. Nakamori M
  4. Thornton CA
  5. Disney MD
  Rational design of bioactive, modularly assembled aminoglycosides targeting the RNA that causes myotonic dystrophy type 1.; ACS chemical biology; Vol 7(12). 2012 Dec 21.
• 1. Wheeler TM
  2. Leger AJ
  3. Pandey SK
  4. MacLeod AR
  5. Nakamori M
  6. Cheng SH
  7. Wentworth BM
  8. Bennett CF
  9. Thornton CA
  Targeting nuclear RNA for in vivo correction of myotonic dystrophy.; Nature; Vol 488(7409). 2012 Aug 2.
• 1. Heatwole C
  2. Bode R
  3. Johnson N
  4. Quinn C
  5. Martens W
  6. McDermott MP
  7. Rothrock N
  8. Thornton C
  9. Vickrey B
  10. Victorson D
  11. Moxley R
  Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1).; Neurology; Vol 79(4). 2012 Jul 24.
• 1. Ofori LO
  2. Hoskins J
  3. Nakamori M
  4. Thornton CA
  5. Miller BL
  From dynamic combinatorial 'hit' to lead: in vitro and in vivo activity of compounds targeting the pathogenic RNAs that cause myotonic dystrophy.; Nucleic acids research; Vol 40(13). 2012 Jul.
• 1. Childs-Disney JL
  2. Hoskins J
  3. Rzuczek SG
  4. Thornton CA
  5. Disney MD
  Rationally designed small molecules targeting the RNA that causes myotonic dystrophy type 1 are potently bioactive.; ACS chemical biology; Vol 7(5). 2012 May 18.