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Myotonic Dystrophy

Neurologic clinics, 2014-08, Vol.32 (3), p.705-719

Thornton, Charles A., MD

2014

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Loss of MBNL Leads to Disruption of Developmentally Regulated Alternative Polyadenylation in RNA-Mediated Disease

Molecular cell, 2014-10, Vol.56 (2), p.311-322

2014

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Sex-related differences in gene expression in human skeletal muscle

PloS one, 2008-01, Vol.3 (1), p.e1385-e1385

2008

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Targeting nuclear RNA for in vivo correction of myotonic dystrophy

Nature (London), 2012-08, Vol.488 (7409), p.111-115

2012

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Benefits of aerobic exercise in myotonic dystrophy type 1

The Journal of clinical investigation, 2022-05, Vol.132 (10)

2022

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Intron retention induced by microsatellite expansions as a disease biomarker

Proceedings of the National Academy of Sciences - PNAS, 2018-04, Vol.115 (16), p.4234-4239

2018

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Splicing biomarkers of disease severity in myotonic dystrophy

Annals of neurology, 2013-12, Vol.74 (6), p.862-872

2013

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Reversal of RNA Dominance by Displacement of Protein Sequestered on Triplet Repeat RNA

Science (American Association for the Advancement of Science), 2009-07, Vol.325 (5938), p.336-339

2009

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

PLoS genetics, 2013-12, Vol.9 (12), p.e1003866

2013

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

PLoS genetics, 2016-09, Vol.12 (9), p.e1006316-e1006316

2016

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Pentamidine reverses the splicing defects associated with myotonic dystrophy

Proceedings of the National Academy of Sciences - PNAS, 2009-11, Vol.106 (44), p.18551-18556

2009

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RNA Interference Targeting CUG Repeats in a Mouse Model of Myotonic Dystrophy

Molecular therapy, 2013-02, Vol.21 (2), p.380-387

2013

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Transcriptome alterations in myotonic dystrophy frontal cortex

Cell reports (Cambridge), 2021-01, Vol.34 (3), p.108634-108634, Article 108634

2021

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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, 2015-11, Vol.355 (2), p.329

2015

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

Human molecular genetics, 2011-02, Vol.20 (3), p.580-588

2011

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

Nucleic acids research, 2015-03, Vol.43 (6), p.3318

2015

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Stabilization of Expanded (CTG)•(CAG) Repeats by Antisense Oligonucleotides

Molecular therapy, 2011-12, Vol.19 (12), p.2222-2227

2011

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

Nature structural & molecular biology, 2010-02, Vol.17 (2), p.187

2010

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

Human molecular genetics, 2011-01, Vol.20 (1), p.1-15

2011

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

The Journal of clinical investigation, 2007-12, Vol.117 (12), p.3952-3957

2007

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Reversal of RNA Missplicing and Myotonia after Muscleblind Overexpression in a Mouse Poly(CUG) Model for Myotonic Dystrophy

Proceedings of the National Academy of Sciences - PNAS, 2006-08, Vol.103 (31), p.11748-11753

2006

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Dynamic Combinatorial Selection of Molecules Capable of Inhibiting the (CUG) Repeat RNA−MBNL1 Interaction In Vitro: Discovery of Lead Compounds Targeting Myotonic Dystrophy (DM1)

Journal of the American Chemical Society, 2008-12, Vol.130 (48), p.16254-16261

2008

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

Human molecular genetics, 2009-04, Vol.18 (8), p.1471-1481

2009

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

Neurology, 2017-09, Vol.89 (13), p.1348

2017

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

Molecular therapy. Nucleic acids, 2017-06, Vol.7 (C), p.465-474

2017

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Myotonic Dystrophy

Loss of MBNL Leads to Disruption of Developmentally Regulated Alternative Polyadenylation in RNA-Mediated Disease

Sex-related differences in gene expression in human skeletal muscle

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

Benefits of aerobic exercise in myotonic dystrophy type 1

Intron retention induced by microsatellite expansions as a disease biomarker

Splicing biomarkers of disease severity in myotonic dystrophy

Reversal of RNA Dominance by Displacement of Protein Sequestered on Triplet Repeat RNA

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

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

Pentamidine reverses the splicing defects associated with myotonic dystrophy

RNA Interference Targeting CUG Repeats in a Mouse Model of Myotonic Dystrophy

Transcriptome alterations in myotonic dystrophy frontal cortex

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

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

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

Stabilization of Expanded (CTG)•(CAG) Repeats by Antisense Oligonucleotides

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

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

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

Reversal of RNA Missplicing and Myotonia after Muscleblind Overexpression in a Mouse Poly(CUG) Model for Myotonic Dystrophy

Dynamic Combinatorial Selection of Molecules Capable of Inhibiting the (CUG) Repeat RNA−MBNL1 Interaction In Vitro: Discovery of Lead Compounds Targeting Myotonic Dystrophy (DM1)

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

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

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

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