Neurogenetic disorders, including myotonic dystrophy; therapeutics, including antisense approaches. Myotonia is a state of hyperexcitability in muscle fibers in which a voluntary contraction or electromechanical stimulation can provoke trains of repetitive action potentials. This causes delay in relaxation after a muscle contraction. The repetitive action potentials are generated by the muscle fibers, independent of any input from the motor neuron. Myotonia is caused by dysfunction of ion channels in the muscle membrane.

Myotonic dystrophy is the most common disease that causes myotonia. Recent studies in our laboratory indicate that the myotonia in myotonic dystrophy is caused, at least in part, by reduced expression of the ClC-1 chloride channel (Mankodi, et al, Molecular Cell, July 2002).

Several strains of mice with myotonia have been isolated. All spontaneous mutations that cause myotonia in mice are allelic. These strains are called "adr", for arrested development of righting response (i.e., the mice are slow to regain their upright posture after being tipped on their side). Adr strains have mutations in the murine Clcn1 gene, similar to the mutations that cause human generalized myotonia congenita.

Certified Specialties

Neurology - American Board of Psychiatry & Neurology

Faculty Appointments

Professor - Department of Neurology, NMD (SMD)

Saunders Family Distinguished Professor in Neuromuscular Research - Department of Neurology (SMD)

Professor - Department of Neuroscience (SMD) - Joint

Credentials

Residency & Fellowship

Fellowship, University of Rochester School of Medicine. 1990 - 1992

Fellowship, Neuromuscular Medicine, University of Rochester School of Medicine. 1989 - 1990

Residency, Neurology, Oregon Health & Science University-OHSU. 1982 - 1985

Internship, Internal Medicine, Mattel Children's Hospital at UCLA Medical Center. 1981 - 1982

Education

MD | University Of Iowa Roy J & Lucille A Carver College Of Medicine. 1981

Awards

Carrell-Krusen Award. 2013

Hans Steinert Award for Myotonic Dystrophy Research. 2011

Norman Saunders Jacob's Ladder International Research Prize. 2010

Paul B Beeson Physician Faculty Scholar Award. 1997 - 2000

Awardee, Clinical Investigator Development. 1992 - 1997

Awardee, Experimental Therapeutics Fellowship. 1991 - 1992

Awardee, Research Fellowship. 1989 - 1991

Fulbright Senior Lecturing Award. 1987 - 1989

Merck Award for Medical Student Achievement. 1981

Borts Student Research Award. 1980

Research

Research Lab

Visit Research Lab Website

Patents

Methods and Compositions for Treatment of Myotonia

Issue date: June 21, 2011

Patent #: 7,964,570

Country: United States

Inventors: Rahul N Kanadia, Maurice S Swanson, Charles A Thornton

Compositions and Methods Related to Protein Displacement Therapy for Myotonic Distrophy

Issue date: September 04, 2014

Patent #: 2007297535

Country: Australia

Inventors: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Compositions and Methods Related to Protein Displacement Therapy for Myotonic Dystrophy

Issue date: November 21, 2017

Patent #: 2,664,189

Country: Canada

Inventors: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Compositions and Methods Related to Protein Displacement Therapy for Myotonic Dystrophy

Issue date: April 28, 2016

Patent #: 5926475

Country: Japan

Inventors: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Nucleic Acid Binding Compounds and Methods of Use

Issue date: December 15, 2015

Patent #: 9,212,205

Country: United States

Inventors: Peter Gareiss, Brian R McNaughton, Benjamin Locke Miller, Krzysztof Sobczak, Charles A Thornton, Joseph E Wedekind

Patient Information Forms for FSHD (Facioscapulohumeral Muscular Dystrophy), DM (Myotonic Dystrophy), and Unaffected Blood Relatives of Individuals with FSH

Issue date: November 16, 2011

Patent #: TXu 1-790-681

Country: United States

Inventors: Michael McDermott, Richard T Moxley, III, Al-Rabi N Tawil, Charles A Thornton

Compositions and Methods Related to Protein Displacement Therapy for Myotonic Distrophy

Issue date: April 13, 2016

Patent #: 2560001

Country: Europe

Inventors: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: March 17, 2016

Patent #: 2011282217

Country: Australia

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 03, 2016

Patent #: ZL201180035573.2

Country: China, People's Republic of

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 05, 2016

Patent #: 5981428

Country: Japan

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: September 14, 2018

Patent #: 10-1900770

Country: Korea, Republic of

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: June 30, 2018

Patent #: 223962

Country: Israel

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Compositions and Methods Related to Protein Displacement Therapy for Myotonic Dystrophy

Issue date: June 30, 2017

Patent #: HK1182447

Country: Hong Kong

Inventors: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Compositions and Methods Related to Protein Displacement Therapy for Myotonic Dystrophy

Issue date: June 21, 2016

Patent #: 9,371,527

Country: United States

Inventors: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Compositions and Methods Related to Protein Displacement Therapy for Myotonic Distrophy

Issue date: March 23, 2017

Patent #: 2014216025

Country: Australia

Inventors: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: September 19, 2017

Patent #: 9,765,338

Country: United States

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Compositions and Methods Related to Protein Displacement Therapy

Issue date: December 09, 2020

Patent #: 3034083

Country: Europe

Inventors: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: 3031920

Country: Europe

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Compositions and Methods Related to Protein Displacement Therapy for Myotonic Distrophy

Issue date: April 13, 2016

Patent #: GB2560001

Country: United Kingdom

Inventors: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Compositions and Methods Related to Protein Displacement Therapy for Myotonic Dystrophy

Issue date: December 15, 2017

Patent #: 6259000

Country: Japan

Inventors: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: May 25, 2018

Patent #: 6343308

Country: Japan

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Compositions and Methods Related to Protein Displacement Therapy for Myotonic Dystrophy

Issue date: December 22, 2020

Patent #: 2,981,308

Country: Canada

Inventors: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: May 01, 2020

Patent #: 6698740

Country: Japan

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: AT3031920

Country: Austria

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: BE3031920

Country: Belgium

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: DK3031920

Country: Denmark

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: FI3031920

Country: Finland

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: FR3031920

Country: France

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: DE3031920

Country: Germany

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: IE3031920

Country: Ireland

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: IT3031920

Country: Italy

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: NL3031920

Country: Netherlands

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: NO3031920

Country: Norway

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: ES3031920

Country: Spain

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: SE3031920

Country: Sweden

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: CH3031920

Country: Switzerland/Liechtenstein

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: GB3031920

Country: United Kingdom

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: PL3031920

Country: Poland

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression

Issue date: August 21, 2019

Patent #: HR3031920

Country: Croatia

Inventors: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Compositions and Methods Related to Protein Displacement Therapy

Issue date: December 09, 2020

Patent #: FR3034083

Country: France

Inventors: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Compositions and Methods Related to Protein Displacement Therapy

Issue date: December 09, 2020

Patent #: DE3034083

Country: Germany

Inventors: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Compositions and Methods Related to Protein Displacement Therapy

Issue date: December 09, 2020

Patent #: GB3034083

Country: United Kingdom

Inventors: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Publications

Journal Articles

Verapamil mitigates chloride and calcium bi-channelopathy in a myotonic dystrophy mouse model.

Cisco LA, Sipple MT, Edwards KM, Thornton CA, Lueck JD

The Journal of clinical investigation.. 2024 January 2134 (1)Epub 01/02/2024.

Combinatorial chloride and calcium channelopathy in myotonic dystrophy.

Cisco LA, Sipple MT, Edwards KM, Thornton CA, Lueck JD

bioRxiv : the preprint server for biology.. 2023 June 1 Epub 06/01/2023.

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, 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

The Lancet. Neurology.. 2023 March 22 (3):218-228. Epub 1900 01 01.

Milestones of progression in myotonic dystrophy type 1 and type 2.

Hamel JI, McDermott MP, Hilbert JE, Martens WB, Luebbe E, Tawil R, Moxley RT, Thornton CA

Muscle & nerve.. 2022 October 66 (4):508-512. Epub 07/21/2022.

Remote assessment of myotonic dystrophy type 1: A feasibility study.

Hamel J, Creigh PD, Dekdebrun J, Eichinger K, Thornton CA

Muscle & nerve.. 2022 September 66 (3):336-339. Epub 04/28/2022.

Benefits of aerobic exercise in myotonic dystrophy type 1.

Mackenzie SJ, Hamel J, Thornton CA

The Journal of clinical investigation.. 2022 May 16132 (10)Epub 1900 01 01.

Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation.

Deutsch GK, Hagerman KA, Sampson J, Dent G, Dekdebrun J, Parker DM, Thornton CA, Heatwole CR, Subramony SH, Mankodi AK, Ashizawa T, Statland JM, Arnold WD, Moxley RT, Day JW,

Muscle & nerve.. 2022 May 65 (5):560-567. Epub 02/28/2022.

Targeted splice sequencing reveals RNA toxicity and therapeutic response in myotonic dystrophy.

Tanner MK, Tang Z, Thornton CA

Nucleic acids research.. 2021 February 2649 (4):2240-2254. Epub 1900 01 01.

A Small Molecule that Binds an RNA Repeat Expansion Stimulates Its Decay via the Exosome Complex.

Angelbello AJ, Benhamou RI, Rzuczek SG, Choudhary S, Tang Z, Chen JL, Roy M, Wang KW, Yildirim I, Jun AS, Thornton CA, Disney MD

Cell chemical biology.. 2021 January 2128 (1):34-45.e6. Epub 11/05/2020.

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

Cell reports.. 2021 January 1934 (3):108634. Epub 1900 01 01.

Mexiletine in Myotonic Dystrophy Type 1: A Randomized, Double-Blind, Placebo-Controlled Trial.

Heatwole C, Luebbe E, Rosero S, Eichinger K, Martens W, Hilbert J, Dekdebrun J, Dilek N, Zizzi C, Johnson N, Puwanant A, Tawil R, Schifitto G, Beck CA, Richeson JF, Zareba W, Thornton C, McDermott MP, Moxley R

Neurology.. 2021 January 1296 (2):e228-e240. Epub 10/12/2020.

CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model.

Ketley A, Wojciechowska M, Ghidelli-Disse S, Bamborough P, Ghosh TK, Morato ML, Sedehizadeh S, Malik NA, Tang Z, Powalowska P, Tanner M, Billeter-Clark R, Trueman RC, Geiszler PC, Agostini A, Othman O, Bösche M, Bantscheff M, Rüdiger M, Mossakowska DE, Drewry DH, Zuercher WJ, Thornton CA, Drewes G, Uings I, Hayes CJ, Brook JD

Science translational medicine.. 2020 April 2912 (541)Epub 1900 01 01.

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

The Journal of general physiology.. 2020 February 3152 (2)Epub 1900 01 01.

Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial.

Kurkiewicz A, Cooper A, McIlwaine E, Cumming SA, Adam B, Krahe R, Puymirat J, Schoser B, Timchenko L, Ashizawa T, Thornton CA, Rogers S, McClure JD, Monckton DG

PloS one.. 2020 15 (4):e0231000. Epub 04/14/2020.

Macrophage Plasticity in Reproduction and Environmental Influences on Their Function.

Chambers M, Rees A, Cronin JG, Nair M, Jones N, Thornton CA

Frontiers in immunology.. 2020 11 :607328. Epub 01/14/2021.

Consensus-based care recommendations for adults with myotonic dystrophy type 2.

Schoser B, Montagnese F, Bassez G, Fossati B, Gamez J, Heatwole C, Hilbert J, Kornblum C, Kostera-Pruszczyk A, Krahe R, Lusakowska A, Meola G, Moxley R, Thornton C, Udd B, Formaker P,

Neurology. Clinical practice.. 2019 August 9 (4):343-353. Epub 1900 01 01.

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

Human molecular genetics.. 2019 April 1528 (8):1312-1321. Epub 1900 01 01.

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

Hilbert JE, Thornton CA, Moxley RT

Neurology.. 2018 April 2490 (17):814. Epub 1900 01 01.

Intron retention induced by microsatellite expansions as a disease biomarker.

Sznajder ?J, 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

Proceedings of the National Academy of Sciences of the United States of America.. 2018 April 17115 (16):4234-4239. Epub 04/02/2018.

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

Thadke S, Perera JDR, Hridya VM, Bhatt K, Shaikh AY, Hsieh WC, Chen MD, Gayathri C, Gil RR, Rule GS, Mukherjee A, Thornton CA, Ly DH

Biochemistry.. 2018 April 1057 (14):2094-2108. Epub 03/27/2018.

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 S, Bhatt K, Sobczak K, Thornton CA, Ly DH

Biochemistry.. 2018 February 1357 (6):907-911. Epub 01/19/2018.

Myotonic dystrophy patient preferences in patient-reported outcome measures.

Heatwole C, Johnson N, Dekdebrun J, Dilek N, Eichinger K, Hilbert J, Luebbe E, Martens W, McDermott MP, Thornton C, Moxley R

Muscle & nerve.. 2018 January 12 Epub 01/12/2018.

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

Carrell ST, Tang Z, Mohr S, Lambowitz AM, Thornton CA

Nucleic acids research.. 2018 January 946 (1):e1. Epub 1900 01 01.

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,

Neurology.. 2017 September 2689 (13):1348-1354. Epub 08/30/2017.

Patient-Centered Therapy Development for Myotonic Dystrophy: Report of the Myotonic Dystrophy Foundation-Sponsored Workshop.

Hesterlee S, Amur S, Bain LJ, Carulli J, Clarke S, Day JW, Gagnon C, Hagerman K, Heatwole C, Johnson NE, Moxley R, Patel N, Thornton C, Kessel W, White M

Therapeutic innovation & regulatory science.. 2017 July 51 (4):516-522. Epub 02/09/2017.

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, McLeod AR, Gourdon G, Wheeler TM, Thornton CA, Bennett CF, Puymirat J

Molecular therapy. Nucleic acids.. 2017 June 167 :465-474. Epub 05/17/2017.

Myotonic dystrophy: approach to therapy.

Thornton CA, Wang E, Carrell EM

Current opinion in genetics & development.. 2017 June 44 :135-140. Epub 04/01/2017.

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

Human molecular genetics.. 2016 October 125 (19):4328-4338. Epub 08/13/2016.

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

PLoS genetics.. 2016 September 12 (9):e1006316. Epub 09/28/2016.

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

Heatwole C, Bode R, Nicholas Johnson , 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

Muscle & nerve.. 2016 February 53 (2):183-90. Epub 12/29/2015.

Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine.

Burns TM, Smith GA, Allen JA, Amato AA, Arnold WD, Barohn R, Benatar M, Bird SJ, Bromberg M, Chahin N, Ciafaloni E, Cohen JA, Corse A, Crum BA, David WS, Dimberg E, De Sousa EA, Donofrio PD, Dyck PJ, Engel AG, Ensrud ER, Ferrante M, Freimer M, Gable KL, Gibson S, Gilchrist JM, Goldstein JM, Gooch CL, Goodman BP, Gorelov D, Gospe SM, Goyal NA, Guidon AC, Guptill JT, Gutmann L, Gutmann L, Gwathmey K, Harati Y, Harper CM, Hehir MK, Hobson-Webb LD, Howard JF, Jackson CE, Johnson N, Jones SM, Juel VC, Kaminski HJ, Karam C, Kennelly KD, Khella S, Khoury J, Kincaid JC, Kissel JT, Kolb N, Lacomis D, Ladha S, Larriviere D, Lewis RA, Li Y, Litchy WJ, Logigian E, Lou JS, MacGowen DJ, Maselli R, Massey JM, Mauermann ML, Mathews KD, Meriggioli MN, Miller RG, Moon JS, Mozaffar T, Nations SP, Nowak RJ, Ostrow LW, Pascuzzi RM, Peltier A, Ruzhansky K, Richman DP, Ross MA, Rubin DI, Russell JA, Sachs GM, Salajegheh MK, Saperstein DS, Scelsa S, Selcen D, Shaibani A, Sheih PB, Silvestri NJ, Singleton JR, Smith BE, So YT, Solorzano G, Sorenson EJ, Srinivasen J, Tavee J, Tawil R, Thaisetthawatkul P, Thornton C, Trivedi J, Vernino S, Wang AK, Webb TA, Weiss MD, Windebank AJ, Wolfe GI

Muscle & nerve.. 2016 February 53 (2):165-8. Epub 12/21/2015.

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

Neurology.. 2015 December 1585 (24):2136-46. Epub 11/18/2015.

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 H, Gattis D, Jauvin D, Puymirat J, Swayze EE, Freier SM, Bennett CF, Thornton CA, MacLeod AR

The Journal of pharmacology and experimental therapeutics.. 2015 November 355 (2):329-40. Epub 09/01/2015.

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

Human molecular genetics.. 2015 April 124 (7):2035-48. Epub 12/11/2014.

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

Nucleic acids research.. 2015 March 3143 (6):3318-31. Epub 03/09/2015.

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

Molecular cell.. 2014 October 2356 (2):311-322. Epub 09/25/2014.

Myotonic dystrophy.

Thornton CA

Neurologic clinics.. 2014 August 32 (3):705-19, viii. Epub 06/06/2014.

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

Muscle & nerve.. 2014 June 49 (6):906-14. Epub 1900 01 01.

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

Nucleic acids research.. 2014 June 42 (10):6591-602. Epub 05/05/2014.

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 M, Moxley RT, Thornton CA

Annals of neurology.. 2013 December 74 (6):862-72. Epub 1900 01 01.

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

ACS chemical biology.. 2013 November 158 (11):2528-37. Epub 09/27/2013.

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

Rzuczek SG, Gao Y, Tang ZZ, Thornton CA, Kodadek T, Disney MD

ACS chemical biology.. 2013 October 188 (10):2312-21. Epub 09/13/2013.

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

Sobczak K, Wheeler TM, Wang W, Thornton CA

Molecular therapy : the journal of the American Society of Gene Therapy.. 2013 February 21 (2):380-7. Epub 11/27/2012.

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

Nature communications.. 2013 4 :2044. Epub 1900 01 01.

Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues.

Axford MM, Wang YH, Nakamori M, Zannis-Hadjopoulos M, Thornton CA, Pearson CE

PLoS genetics.. 2013 9 (12):e1003866. Epub 12/19/2013.

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

ACS chemical biology.. 2012 December 217 (12):1984-93. Epub 11/07/2012.

PMS66 The Myotonic Dystrophy Type-1 Health Index (MDHI): An Analysis of its Ability to Differentiate Between Clinically Distinct Populations.

Heatwole C, Bode R, Dekdebrun J, Dilek N, Johnson N, Luebbe E, Martens W, Thornton C, Moxley RT

Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research.. 2012 November 15 (7):A451. Epub 10/27/2012.

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

Nature.. 2012 August 2488 (7409):111-5. Epub 1900 01 01.

Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1).

Heatwole C, Bode R, Johnson N, Quinn C, Martens W, McDermott MP, Rothrock N, Thornton C, Vickrey B, Victorson D, Moxley R

Neurology.. 2012 July 2479 (4):348-57. Epub 07/11/2012.

From dynamic combinatorial 'hit' to lead: in vitro and in vivo activity of compounds targeting the pathogenic RNAs that cause myotonic dystrophy.

Ofori LO, Hoskins J, Nakamori M, Thornton CA, Miller BL

Nucleic acids research.. 2012 July 40 (13):6380-90. Epub 04/06/2012.

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

ACS chemical biology.. 2012 May 187 (5):856-62. Epub 03/05/2012.

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

Human molecular genetics.. 2012 March 1521 (6):1312-24. Epub 12/02/2011.

Design of a bioactive small molecule that targets the myotonic dystrophy type 1 RNA via an RNA motif-ligand database and chemical similarity searching.

Parkesh R, Childs-Disney JL, Nakamori M, Kumar A, Wang E, Wang T, Hoskins J, Tran T, Housman D, Thornton CA, Disney MD

Journal of the American Chemical Society.. 2012 March 14134 (10):4731-42. Epub 03/05/2012.

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,

Contemporary clinical trials.. 2012 March 33 (2):302-11. Epub 11/26/2011.

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

Analytical and bioanalytical chemistry.. 2012 February 402 (5):1889-98. Epub 01/05/2012.

Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy.

Mankodi A, Wheeler TM, Shetty R, Salceies KM, Becher MW, Thornton CA

Neurobiology of disease.. 2012 January 45 (1):539-46. Epub 09/21/2011.

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

Nakamori M, Gourdon G, Thornton CA

Molecular therapy : the journal of the American Society of Gene Therapy.. 2011 December 19 (12):2222-7. Epub 10/04/2011.

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

Journal of medical genetics.. 2011 July 48 (7):438-43. Epub 05/27/2011.

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

Epigenetics.. 2011 April 6 (4):416-20. Epub 04/01/2011.

Response to the letter: "On the localization of ClC-1 in skeletal muscle fibers".

Lueck JD, Rossi AE, Thornton CA, Campbell KP, Dirksen RT

The Journal of general physiology.. 2011 March 137 (3):331-3. Epub 1900 01 01.

Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats.

Nakamori M, Pearson CE, Thornton CA

Human molecular genetics.. 2011 February 120 (3):580-8. Epub 11/18/2010.

Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues.

López Castel A, Nakamori M, Tomé S, Chitayat D, Gourdon G, Thornton CA, Pearson CE

Human molecular genetics.. 2011 January 120 (1):1-15. Epub 11/01/2010.

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

Archives of neurology.. 2011 January 68 (1):37-44. Epub 09/13/2010.

Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle.

Lueck JD, Rossi AE, Thornton CA, Campbell KP, Dirksen RT

The Journal of general physiology.. 2010 December 136 (6):597-613. Epub 11/15/2010.

Epigenetic changes and non-coding expanded repeats.

Nakamori M, Thornton C

Neurobiology of disease.. 2010 July 39 (1):21-7. Epub 02/18/2010.

Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1.

Logigian EL, Martens WB, Moxley RT, McDermott MP, Dilek N, Wiegner AW, Pearson AT, Barbieri CA, Annis CL, Thornton CA, Moxley RT

Neurology.. 2010 May 474 (18):1441-8. Epub 1900 01 01.

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

Muscle & nerve.. 2010 February 41 (2):191-6. Epub 1900 01 01.

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

Nature structural & molecular biology.. 2010 February 17 (2):187-93. Epub 01/24/2010.

Controlling the specificity of modularly assembled small molecules for RNA via ligand module spacing: targeting the RNAs that cause myotonic muscular dystrophy.

Lee MM, Childs-Disney JL, Pushechnikov A, French JM, Sobczak K, Thornton CA, Disney MD

Journal of the American Chemical Society.. 2009 December 2131 (47):17464-72. Epub 1900 01 01.

Hypothesis: neoplasms in myotonic dystrophy.

Mueller CM, Hilbert JE, Martens W, Thornton CA, Moxley RT, Greene MH

Cancer causes & control : CCC.. 2009 December 20 (10):2009-20. Epub 1900 01 01.

Pentamidine reverses the splicing defects associated with myotonic dystrophy.

Warf MB, Nakamori M, Matthys CM, Thornton CA, Berglund JA

Proceedings of the National Academy of Sciences of the United States of America.. 2009 November 3106 (44):18551-6. Epub 10/12/2009.

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

Nakamori M, Sobczak K, Moxley RT, Thornton CA

Neuromuscular disorders : NMD.. 2009 November 19 (11):759-62. Epub 08/26/2009.

Relation between extent of myostatin depletion and muscle growth in mature mice.

Welle S, Burgess K, Thornton CA, Tawil R

American journal of physiology. Endocrinology and metabolism.. 2009 October 297 (4):E935-40. Epub 08/04/2009.

Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy.

Mulders SA, van den Broek WJ, Wheeler TM, Croes HJ, van Kuik-Romeijn P, de Kimpe SJ, Furling D, Platenburg GJ, Gourdon G, Thornton CA, Wieringa B, Wansink DG

Proceedings of the National Academy of Sciences of the United States of America.. 2009 August 18106 (33):13915-20. Epub 08/10/2009.

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

Journal of the American Chemical Society.. 2009 July 22131 (28):9767-79. Epub 1900 01 01.

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

Science.. 2009 July 17325 (5938):336-9. Epub 1900 01 01.

Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy.

Osborne RJ, Lin X, Welle S, Sobczak K, O'Rourke JR, Swanson MS, Thornton CA

Human molecular genetics.. 2009 April 1518 (8):1471-81. Epub 02/17/2009.

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

Journal of the American Chemical Society.. 2008 December 3130 (48):16254-61. Epub 1900 01 01.

Subcutaneous IGF-1 is not beneficial in 2-year ALS trial.

Sorenson EJ, Windbank AJ, Mandrekar JN, Bamlet WR, Appel SH, Armon C, Barkhaus PE, Bosch P, Boylan K, David WS, Feldman E, Glass J, Gutmann L, Katz J, King W, Luciano CA, McCluskey LF, Nash S, Newman DS, Pascuzzi RM, Pioro E, Sams LJ, Scelsa S, Simpson EP, Subramony SH, Tiryaki E, Thornton CA

Neurology.. 2008 November 2571 (22):1770-5. Epub 1900 01 01.

A trial of mycophenolate mofetil with prednisone as initial immunotherapy in myasthenia gravis.

Neurology.. 2008 August 571 (6):394-9. Epub 04/23/2008.

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

Osborne RJ, Thornton CA

Nucleic acids research.. 2008 March 36 (4):e24. Epub 02/07/2008.

The hypocretin neurotransmission system in myotonic dystrophy type 1.

Ciafaloni E, Mignot E, Sansone V, Hilbert JE, Lin L, Lin X, Liu LC, Pigeon WR, Perlis ML, Thornton CA

Neurology.. 2008 January 1570 (3):226-30. Epub 1900 01 01.

Welle S, Tawil R, Thornton CA

PloS one.. 2008 January 23 (1):e1385. Epub 01/02/2008.

RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.

Yadava RS, Frenzel-McCardell CD, Yu Q, Srinivasan V, Tucker AL, Puymirat J, Thornton CA, Prall OW, Harvey RP, Mahadevan MS

Nature genetics.. 2008 January 40 (1):61-8. Epub 12/16/2007.

Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery.

Gwinn K, Corriveau RA, Mitsumoto H, Bednarz K, Brown RH, Cudkowicz M, Gordon PH, Hardy J, Kasarskis EJ, Kaufmann P, Miller R, Sorenson E, Tandan R, Traynor BJ, Nash J, Sherman A, Mailman MD, Ostell J, Bruijn L, Cwik V, Rich SS, Singleton A, Refolo L, Andrews J, Zhang R, Conwit R, Keller MA,

PloS one.. 2007 December 52 (12):e1254. Epub 12/05/2007.

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

The Journal of clinical investigation.. 2007 December 117 (12):3952-7. Epub 1900 01 01.

Myotonic dystrophy: RNA-mediated muscle disease.

Wheeler TM, Thornton CA

Current opinion in neurology.. 2007 October 20 (5):572-6. Epub 1900 01 01.

Computerized hand grip myometry reliably measures myotonia and muscle strength in myotonic dystrophy (DM1).

Moxley RT, Logigian EL, Martens WB, Annis CL, Pandya S, Moxley RT, Barbieri CA, Dilek N, Wiegner AW, Thornton CA

Muscle & nerve.. 2007 September 36 (3):320-8. Epub 1900 01 01.

Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1.

Lueck JD, Lungu C, Mankodi A, Osborne RJ, Welle SL, Dirksen RT, Thornton CA

American journal of physiology. Cell physiology.. 2007 April 292 (4):C1291-7. Epub 11/29/2006.

Muscle growth after postdevelopmental myostatin gene knockout.

Welle S, Bhatt K, Pinkert CA, Tawil R, Thornton CA

American journal of physiology. Endocrinology and metabolism.. 2007 April 292 (4):E985-91. Epub 12/05/2006.

Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy.

Logigian EL, Ciafaloni E, Quinn LC, Dilek N, Pandya S, Moxley RT, Thornton CA

Muscle & nerve.. 2007 April 35 (4):479-85. Epub 1900 01 01.

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

Wheeler TM, Krym MC, Thornton CA

Neuromuscular disorders : NMD.. 2007 March 17 (3):242-7. Epub 02/15/2007.

Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci.

Margolis RL, Rudnicki DD, Holmes SE, Lin MW, Thornton CA, Ross CA, Margolis RL

Annals of neurology.. 2007 March 61 (3):272-82. Epub 1900 01 01.

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.

Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R

Neurology.. 2007 February 2068 (8):569-77. Epub 12/06/2006.

Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy.

Lueck JD, Mankodi A, Swanson MS, Thornton CA, Dirksen RT

The Journal of general physiology.. 2007 January 129 (1):79-94. Epub 12/11/2006.

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

Nucleic Acids Res. 2007; .

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

Nucleic acids research.. 2007 35 (16):5474-86. Epub 08/15/2007.

RNA-dominant diseases.

Osborne RJ, Thornton CA

Human molecular genetics.. 2006 October 1515 Spec No 2 :R162-9. Epub 1900 01 01.

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

Proceedings of the National Academy of Sciences of the United States of America.. 2006 August 1103 (31):11748-53. Epub 07/24/2006.

Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy.

Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, Moxley RT, Swanson MS, Thornton CA

Human molecular genetics.. 2006 July 115 (13):2087-97. Epub 05/22/2006.

140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management.

Udd B, Meola G, Krahe R, Thornton C, Ranum LP, Bassez G, Kress W, Schoser B, Moxley R

Neuromuscular disorders : NMD.. 2006 June 16 (6):403-13. Epub 05/08/2006.

RNA Dominant Diseases

Osborne, RJ; Thornton, CA.

Human Molecular Genetics. 2006; 15: 162-69.

Nuclear RNA foci in the heart in myotonic dystrophy.

Mankodi A, Lin X, Blaxall BC, Swanson MS, Thornton CA

Circulation research.. 2005 November 2597 (11):1152-5. Epub 10/27/2005.

The role of RNA and RNA processing in neurodegeneration.

Gallo JM, Jin P, Thornton CA, Lin H, Robertson J, D'Souza I, Schlaepfer WW

The Journal of neuroscience : the official journal of the Society for Neuroscience.. 2005 November 925 (45):10372-5. Epub 1900 01 01.

Quantitative analysis of the "warm-up" phenomenon in myotonic dystrophy type 1.

Logigian EL, Blood CL, Dilek N, Martens WB, Moxley RT, Wiegner AW, Thornton CA, Moxley RT

Muscle & nerve.. 2005 July 32 (1):35-42. Epub 1900 01 01.

Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current.

Berg J, Jiang H, Thornton CA, Cannon SC

Neurology.. 2004 December 2863 (12):2371-5. Epub 1900 01 01.

Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons.

Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA

Human molecular genetics.. 2004 December 1513 (24):3079-88. Epub 10/20/2004.

Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1.

Logigian EL, Moxley RT, Blood CL, Barbieri CA, Martens WB, Wiegner AW, Thornton CA, Moxley RT

Neurology.. 2004 April 1362 (7):1081-9. Epub 1900 01 01.

Skeletal muscle gene expression profiles in 20-29 year old and 65-71 year old women.

Welle S, Brooks AI, Delehanty JM, Needler N, Bhatt K, Shah B, Thornton CA

Experimental gerontology.. 2004 March 39 (3):369-77. Epub 1900 01 01.

A muscleblind knockout model for myotonic dystrophy.

Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, Timmers AM, Hauswirth WW, Swanson MS

Science.. 2003 December 12302 (5652):1978-80. Epub 1900 01 01.

A comparison of muscle strength testing techniques in amyotrophic lateral sclerosis.

Neurology.. 2003 December 961 (11):1503-7. Epub 1900 01 01.

Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2.

Mankodi A, Teng-Umnuay P, Krym M, Henderson D, Swanson M, Thornton CA

Annals of neurology.. 2003 December 54 (6):760-8. Epub 1900 01 01.

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, Thornton CA, Moxley RT, Harper PS, Rogers MT, Jurkat-Rott K, Lehmann-Horn F, Wieser T, Gamez J, Navarro C, Bottani A, Kohler A, Shriver MD, Sallinen R, Wessman M, Zhang S, Wright FA, Krahe R

American journal of human genetics.. 2003 October 73 (4):835-48. Epub 09/10/2003.

Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands.

Udd B, Meola G, Krahe R, Thornton C, Ranum L, Day J, Bassez G, Ricker K

Neuromuscular disorders : NMD.. 2003 September 13 (7-8):589-96. Epub 1900 01 01.

Gene expression profile of aging in human muscle.

Welle S, Brooks AI, Delehanty JM, Needler N, Thornton CA

Physiological genomics.. 2003 July 714 (2):149-59. Epub 07/07/2003.

Reduced amount of mitochondrial DNA in aged human muscle.

Welle S, Bhatt K, Shah B, Needler N, Delehanty JM, Thornton CA

Journal of applied physiology.. 2003 April 94 (4):1479-84. Epub 12/20/2002.

Reduced amount of mitochondrial DNA in aged human muscle

Welle,S.; Bhatt,K.; Shah,B.; Needler,N.; Delehanty,J. M.; Thornton,C. A.;.

Journal of applied physiology: respiratory, environmental and exercise physiology. 2003; 94(4): 1479-1484.

Gene expression profile of aging in human muscle

Welle,S.; Brooks,A. I.; Delehanty,J. M.; Needler,N.; Thornton,C. A.;.

Physiological Genomics (Online). 2003; 14(2): 149-159.

Molecular fingerprints of inflammatory myopathies.

Thornton CA, Welle SL

Neurology.. 2002 October 2259 (8):1128-9. Epub 1900 01 01.

Myotonic syndromes.

Mankodi A, Thornton CA

Current opinion in neurology.. 2002 October 15 (5):545-52. Epub 1900 01 01.

Randomized, controlled trial of intravenous immunoglobulin in myasthenia gravis.

Wolfe GI, Barohn RJ, Foster BM, Jackson CE, Kissel JT, Day JW, Thornton CA, Nations SP, Bryan WW, Amato AA, Freimer ML, Parry GJ,

Muscle & nerve.. 2002 October 26 (4):549-52. Epub 1900 01 01.

Computational method for reducing variance with Affymetrix microarrays.

Welle S, Brooks AI, Thornton CA

BMC bioinformatics.. 2002 August 303 :23. Epub 08/30/2002.

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy.

Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, Cannon SC, Thornton CA

Molecular cell.. 2002 July 10 (1):35-44. Epub 1900 01 01.

Insulin-like growth factor-1 and myostatin mRNA expression in muscle: comparison between 62-77 and 21-31 yr old men.

Welle S, Bhatt K, Shah B, Thornton C

Experimental gerontology.. 2002 June 37 (6):833-9. Epub 1900 01 01.

Proximal myotonic myopathy: a syndrome with a favourable prognosis?

Meola G, Sansone V, Marinou K, Cotelli M, Moxley RT, Thornton CA, De Ambroggi L

Journal of the neurological sciences.. 2002 January 15193 (2):89-96. Epub 1900 01 01.

Computational method for reducing variance with Affymetrix microarrays

Welle,S.; Brooks,A. I.; Thornton,C. A.;.

BMC bioinformatics [computer file]. 2002; 3: 23.

Six and Eya expression during human somitogenesis and MyoD gene family activation.

Fougerousse F, Durand M, Lopez S, Suel L, Demignon J, Thornton C, Ozaki H, Kawakami K, Barbet P, Beckmann JS, Maire P

Journal of muscle research and cell motility.. 2002 23 (3):255-64. Epub 1900 01 01.

Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.

Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M, Henderson D, Schalling M, Swanson MS, Thornton CA

Human molecular genetics.. 2001 September 1510 (19):2165-70. Epub 1900 01 01.

Distal myasthenia gravis with a decrement, an increment, and denervation.

Musser WS, Barbano RL, Thornton CA, Moxley RT, Herrmann DN, Logigian EL

Journal of clinical neuromuscular disease.. 2001 September 3 (1):16-9. Epub 1900 01 01.

A prospective natural history study of inclusion body myositis: implications for clinical trials.

Rose MR, McDermott MP, Thornton CA, Palenski C, Martens WB, Griggs RC

Neurology.. 2001 August 1457 (3):548-50. Epub 1900 01 01.

Biomedicine. Reconstructing myotonic dystrophy.

Tapscott SJ, Thornton CA

Science.. 2001 August 3293 (5531):816-7. Epub 1900 01 01.

Welle S, Brooks A, Thornton CA

Physiological genomics.. 2001 March 85 (2):67-73. Epub 03/08/2001.

Randomized controlled trial of IVIg in untreated chronic inflammatory demyelinating polyradiculoneuropathy.

Mendell JR, Barohn RJ, Freimer ML, Kissel JT, King W, Nagaraja HN, Rice R, Campbell WW, Donofrio PD, Jackson CE, Lewis RA, Shy M, Simpson DM, Parry GJ, Rivner MH, Thornton CA, Bromberg MB, Tandan R, Harati Y, Giuliani MJ,

Neurology.. 2001 February 2756 (4):445-9. Epub 1900 01 01.

Senescence-related changes in gene expression in muscle: similarities and differences between mice and men

Welle,S.; Brooks,A.; Thornton,C. A.;.

Physiological Genomics (Online). 2001; 5(2): 67-73.

Distal Myasthenia Gravis with a Decrement, an Increment, and Denervation

Musser, WS; Barbano, R; Thornton, CA; Moxley, RTIII; Herrmann, DN; Logigian, EL.

J Clin Neuromuscular Disease. 2001; 3(1): 16-19.

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat.

Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, Krym M, Thornton CA

Science.. 2000 September 8289 (5485):1769-73. Epub 1900 01 01.

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy.

Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS

The EMBO journal.. 2000 September 119 (17):4439-48. Epub 1900 01 01.

High-abundance mRNAs in human muscle: comparison between young and old.

Welle S, Bhatt K, Thornton CA

Journal of applied physiology.. 2000 July 89 (1):297-304. Epub 1900 01 01.

K-40 and dual-energy X-ray absorptiometry estimates of lean weight compared. Normals and patients with neuromuscular disease.

Forbes GB, Griggs RC, Moxley RT, Thornton CT, Tawil R

Annals of the New York Academy of Sciences.. 2000 May 904 :111-4. Epub 1900 01 01.

Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR.

Tian B, White RJ, Xia T, Welle S, Turner DH, Mathews MB, Thornton CA

RNA.. 2000 January 6 (1):79-87. Epub 1900 01 01.

High-abundance mRNAs in human muscle: comparison between young and old

Welle,S.; Bhatt,K.; Thornton,C. A.;.

Journal of applied physiology: respiratory, environmental and exercise physiology. 2000; 89(1): 297-304.

Recovery from severe arsenic-induced peripheral neuropathy with 2,3-dimercapto-1-propanesulphonic acid.

Wax PM, Thornton CA

Journal of toxicology. Clinical toxicology.. 2000 38 (7):777-80. Epub 1900 01 01.

Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy.

Meola G, Sansone V, Perani D, Colleluori A, Cappa S, Cotelli M, Fazio F, Thornton CA, Moxley RT

Neurology.. 1999 September 2253 (5):1042-50. Epub 1900 01 01.

Quantitative assessment of motor fatigue and strength in MS.

Schwid SR, Thornton CA, Pandya S, Manzur KL, Sanjak M, Petrie MD, McDermott MP, Goodman AD

Neurology.. 1999 September 1153 (4):743-50. Epub 1900 01 01.

Inventory of high-abundance mRNAs in skeletal muscle of normal men.

Welle S, Bhatt K, Thornton CA

Genome research.. 1999 May 9 (5):506-13. Epub 1900 01 01.

A controlled trial of recombinant methionyl human BDNF in ALS: The BDNF Study Group (Phase III).

Neurology.. 1999 April 2252 (7):1427-33. Epub 1900 01 01.

Stimulation of myofibrillar synthesis by exercise is mediated by more efficient translation of mRNA.

Welle S, Bhatt K, Thornton CA

Journal of applied physiology.. 1999 April 86 (4):1220-5. Epub 1900 01 01.

Minimal expansion of the GCG repeat in the PABP2 gene does not predispose to sporadic inclusion body myositis.

Mezei MM, Mankodi A, Brais B, Marineau C, Thornton CA, Rouleau GA, Karpati G

Neurology.. 1999 February 52 (3):669-70. Epub 1900 01 01.

Getting a grip on the myotonic dystrophies.

Thornton CA, Ashizawa T

Neurology.. 1999 January 152 (1):12-3. Epub 1900 01 01.

Stimulation of myofibrillar synthesis by exercise is mediated by more efficient translation of mRNA

Welle,S.; Bhatt,K.; Thornton,C. A.;.

Journal of applied physiology: respiratory, environmental and exercise physiology. 1999; 86(4): 1220-1225.

The myotonic dystrophies.

Thornton C

Seminars in neurology.. 1999 19 (1):25-33. Epub 1900 01 01.

Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy.

Simmons Z, Thornton CA, Seltzer WK, Richards CS

Neurology.. 1998 May 50 (5):1501-4. Epub 1900 01 01.

High-protein meals do not enhance myofibrillar synthesis after resistance exercise in 62- to 75-yr-old men and women.

Welle S, Thornton CA

American journal of physiology. Endocrinology and metabolism.. 1998 April 1274 (4):E677-E683. Epub 1900 01 01.

High-protein meals do not enhance myofibrillar synthesis after resistance exercise in 62- to 75-yr-old men and women.

Welle S, Thornton CA

The American journal of physiology.. 1998 April 274 (4):E677-83. Epub 1900 01 01.

Insulin-like growth factor-I, actin, and myosin heavy chain messenger RNAs in skeletal muscle after an injection of growth hormone in subjects over 60 years old.

Welle S, Thornton C

The Journal of endocrinology.. 1997 October 155 (1):93-7. Epub 1900 01 01.

Expression of elongation factor-1 alpha and S1 in young and old human skeletal muscle.

Welle S, Thornton C, Bhatt K, Krym M

The journals of gerontology. Series A, Biological sciences and medical sciences.. 1997 September 52 (5):B235-9. Epub 1900 01 01.

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene.

Thornton CA, Wymer JP, Simmons Z, McClain C, Moxley RT

Nature genetics.. 1997 August 16 (4):407-9. Epub 1900 01 01.

Effect of age on muscle hypertrophy induced by resistance training.

Welle S, Totterman S, Thornton C

The journals of gerontology. Series A, Biological sciences and medical sciences.. 1996 November 51 (6):M270-5. Epub 1900 01 01.

Growth hormone increases muscle mass and strength but does not rejuvenate myofibrillar protein synthesis in healthy subjects over 60 years old.

Welle S, Thornton C, Statt M, McHenry B

The Journal of clinical endocrinology and metabolism.. 1996 September 81 (9):3239-43. Epub 1900 01 01.

Human IgG production in vivo: determination of synthetic rate by nonradioactive tracer incorporation.

Thornton CA, Welle S, Griggs RC, Abraham GN

The Journal of immunology : official journal of the American Association of Immunologists.. 1996 July 15157 (2):950-5. Epub 1900 01 01.

Utility of creatinine excretion in body-composition studies of healthy men and women older than 60 y.

Welle S, Thornton C, Totterman S, Forbes G

The American journal of clinical nutrition.. 1996 February 63 (2):151-6. Epub 1900 01 01.

Polyadenylated RNA, actin mRNA, and myosin heavy chain mRNA in young and old human skeletal muscle.

Welle S, Bhatt K, Thornton C

The American journal of physiology.. 1996 February 270 (2 Pt 1):E224-9. Epub 1900 01 01.

PROMM syndrome (Ricker's disease).

Thornton C, Griggs RC, Moxley RT

Annals of neurology.. 1995 August 38 (2):273. Epub 1900 01 01.

Myofibrillar protein synthesis in young and old human subjects after three months of resistance training.

Welle S, Thornton C, Statt M

The American journal of physiology.. 1995 March 268 (3 Pt 1):E422-7. Epub 1900 01 01.

Ragged red fibers in normal aging and inflammatory myopathy.

Rifai Z, Welle S, Kamp C, Thornton CA

Annals of neurology.. 1995 January 37 (1):24-9. Epub 1900 01 01.

Postprandial myofibrillar and whole body protein synthesis in young and old human subjects.

Welle S, Thornton C, Statt M, McHenry B

The American journal of physiology.. 1994 October 267 (4 Pt 1):E599-604. Epub 1900 01 01.

Plasma exchange and intravenous immunoglobulin treatment of neuromuscular disease.

Thornton CA, Griggs RC

Annals of neurology.. 1994 March 35 (3):260-8. Epub 1900 01 01.

Myotonic dystrophy with no trinucleotide repeat expansion.

Thornton CA, Griggs RC, Moxley RT

Annals of neurology.. 1994 March 35 (3):269-72. Epub 1900 01 01.

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes.

Thornton CA, Johnson K, Moxley RT

Annals of neurology.. 1994 January 35 (1):104-7. Epub 1900 01 01.

Human T cell lymphotropic virus type 1 in Zimbabwe.

Houston S, Thornton C, Emmanuel J, Latif A

Transactions of the Royal Society of Tropical Medicine and Hygiene.. 1994 88 (2):170-2. Epub 1900 01 01.

Myofibrillar protein synthesis in young and old men.

Welle S, Thornton C, Jozefowicz R, Statt M

The American journal of physiology.. 1993 May 264 (5 Pt 1):E693-8. Epub 1900 01 01.

Safety of intravenous immunoglobulin.

Thornton CA, Ballow M

Archives of neurology.. 1993 February 50 (2):135-6. Epub 1900 01 01.

Neurocysticercosis and human immunodeficiency virus infection. A possible association.

Thornton CA, Houston S, Latif AS

Archives of neurology.. 1992 September 49 (9):963-5. Epub 1900 01 01.

Rhabdomyolysis associated with human immunodeficiency virus (HIV) infection.

Neves O, Stein CM, Thornton C, Gangaidzo I, Thomas JE

The Central African journal of medicine.. 1991 November 37 (11):387-8. Epub 1900 01 01.

Guillain-Barré syndrome associated with human immunodeficiency virus infection in Zimbabwe.

Thornton CA, Latif AS, Emmanuel JC

Neurology.. 1991 June 41 (6):812-5. Epub 1900 01 01.

Books

Muscle: Fundamental Biology and Mechanisms and Disease (2011)

Chapter: Myotonic Dystrophy

Authors: Thornton, CA

Publisher: Elsevier 2011

Disorders of Voluntary Muscle (2009)

Chapter: Myotonic Dystrophy

Authors: Day J, Thornton C

Publisher: Cambridge University Press, Cambridge UK 2009

Genetic Instabilities and Neurological Diseases (2006)

Chapter: The RNA-Mediated Disease Process in Myotonic Dystrophy

Authors: Thornton CA, Swanson MS, Cooper TA

Publisher: Elsevier, San Diego, CA 2006

Neurobiology of Disease (2006)

Chapter: Muscular Dystrophies

Authors: Lim LE, Thornton CA, Rando TA

Publisher: Elsevier, San Diego, CA 2006

Neurobiology of Disease (2006)

Chapter: Muscular Dystrophies

Authors: Lim LE, Thornton CA, Rando TA

Publisher: Elsevier, San Diego 2006

Cecil Textbook of Medicine (2004)

Chapter: Neurogenetics

Authors: Thornton C; Griggs RC

Publisher: Saunders Co., Philadelphia, PA 2004

Structural and Molecular Basis of Skeletal Muscle Disease (2002)

Chapter: Myopathies Based on Complex Molecular Defects: Repeat Expansion Diseases. The Myotonic Dystrophies

Authors: Thornton C

Publisher: Neuropath Press 2002

Pediatric Neurology. Principles and Practice (1999)

Chapter: Channelopathies: Myotonic Disorders and Periodic Paralysis

Authors: Moxley RT III; Tawil R; Thornton C

Publisher: Mosby, St Louis 1999

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