Myotonic Dystrophies: Targeting Therapies for Multisystem Disease

Effect and impact of mechanical ventilation in myotonic dystrophy type 1: a prospective cohort study

(2018) Ghilas Boussaïd et al.   THORAX

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

(2018) Chantal Sellier et al.   Nature Communications

Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy

(2018) Marzena Wojciechowska et al.   Scientific Reports

SCN4A as modifier gene in patients with myotonic dystrophy type 2

(2018) Anna Binda et al.   Scientific Reports

Distribution and Structure of DM2 Repeat Tract Alleles in the German Population

(2018) Alexis S. Mahyera et al.   Frontiers in Neurology

Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I

(2017) Marielle Brockhoff et al.   JOURNAL OF CLINICAL INVESTIGATION

Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2

(2017) Federica Montagnese et al.   JOURNAL OF NEUROLOGY

Temporomandibular dysfunction in adult patients with myotonic dystrophy (DM1)

(2017) C. Mejersjö et al.   JOURNAL OF ORAL REHABILITATION

CRISPR/Cas9-Induced (CTG⋅CAG) n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing

(2017) Ellen L. van Agtmaal et al.   MOLECULAR THERAPY

Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease

(2017) Valentina Sardone et al.   MOLECULES

Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects

(2017) Giovanni Meola et al.   NEUROLOGICAL SCIENCES

Open-label trial of ranolazine for the treatment of myotonia congenita

(2017) W. David Arnold et al.   NEUROLOGY

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

(2017) James E. Hilbert et al.   NEUROLOGY

RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2

(2017) Tao Zu et al.   NEURON

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS

(2017) Genevieve Gourdon et al.   Frontiers in Cellular Neuroscience

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

(2017) Dominic Jauvin et al.   Molecular Therapy-Nucleic Acids

CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients

(2017) Claudia Provenzano et al.   Molecular Therapy-Nucleic Acids

A Potent Inhibitor of Protein Sequestration by Expanded Triplet (CUG) Repeats that Shows Phenotypic Improvements in aDrosophilaModel of Myotonic Dystrophy

(2016) Long M. Luu et al.   ChemMedChem

Genome Therapy of Myotonic Dystrophy Type 1 iPS Cells for Development of Autologous Stem Cell Therapy

(2016) Yuanzheng Gao et al.   MOLECULAR THERAPY

One clinic's experience with carbon fiber orthoses in neuromuscular disease

(2016) Ani Mnatsakanian et al.   MUSCLE & NERVE

Precise small-molecule recognition of a toxic CUG RNA repeat expansion

(2016) Suzanne G Rzuczek et al.   Nature Chemical Biology

Knowledge of Sub-Types Important to Understanding of the Prevalence of Myotonic Dystrophy

(2016) Alice Theadom et al.   NEUROEPIDEMIOLOGY

Clusters of cognitive impairment among different phenotypes of myotonic dystrophy type 1 and type 2

(2016) Stojan Peric et al.   NEUROLOGICAL SCIENCES

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

(2016) Celine Dogan et al.   PLoS One

Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification

(2016) M. De Antonio et al.   REVUE NEUROLOGIQUE

Genome Editing of Monogenic Neuromuscular Diseases

(2016) Chengzu Long et al.   JAMA Neurology

Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy

(2016) Guiying Chen et al.   Scientific Reports

Sodium channel slow inactivation as a therapeutic target for myotonia congenita

(2015) Kevin R. Novak et al.   ANNALS OF NEUROLOGY

Sodium Channel Inhibitors Reduce DMPK mRNA and Protein

(2015) Luke Witherspoon et al.   CTS-Clinical and Translational Science

Primary Cataract as a Key to Recognition of Myotonic Dystrophy Type 1

(2015) Nicol C. Voermans et al.   EUROPEAN JOURNAL OF OPHTHALMOLOGY

Myotonic dystrophy and the heart: A systematic review of evaluation and management

(2015) J.K. Lau et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Rationally Designed Small Molecules That Target Both the DNA and RNA Causing Myotonic Dystrophy Type 1

(2015) Lien Nguyen et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Peripheral nerve involvement in myotonic dystrophy type 2 – similar or different than in myotonic dystrophy type 1?

(2015) Monika Nojszewska et al.   Neurologia i Neurochirurgia Polska

207th ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies: Management and implications for research, 27–29 June 2014, Naarden, The Netherlands

(2015) V.A. Sansone et al.   NEUROMUSCULAR DISORDERS

Lack of correlation between the ventilatory response to CO2 and lung function impairment in myotonic dystrophy patients: Evidence for a dysregulation at central level

(2015) Mathias Poussel et al.   NEUROMUSCULAR DISORDERS

SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype

(2015) E. Bugiardini et al.   NEUROMUSCULAR DISORDERS

Genome Modification Leads to Phenotype Reversal in Human Myotonic Dystrophy Type 1 Induced Pluripotent Stem Cell-Derived Neural Stem Cells

(2015) Guangbin Xia et al.   STEM CELLS

Actinomycin D Specifically Reduces Expanded CUG Repeat RNA in Myotonic Dystrophy Models

(2015) Ruth B. Siboni et al.   Cell Reports

Muscle wasting in myotonic dystrophies: a model of premature aging

(2015) Alba Judith Mateos-Aierdi et al.   Frontiers in Aging Neuroscience

Sleep and breathing disorders in myotonic dystrophy type 2

(2014) L. Leonardis et al.   ACTA NEUROLOGICA SCANDINAVICA

Impact of Habitual Exercise on the Strength of Individuals with Myotonic Dystrophy Type 1

(2014) Lauren I. Brady et al.   AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION

Significant impact of behavioral and cognitive impairment on quality of life in patients with myotonic dystrophy type 1

(2014) V. Rakocevic-Stojanovic et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Endocrine function over time in patients with myotonic dystrophy type 1

(2014) J. R. Dahlqvist et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

(2014) Ramesh S. Yadava et al.   HUMAN MOLECULAR GENETICS

Pain location and intensity impacts function in persons with myotonic dystrophy type 1 and facioscapulohumeral dystrophy with chronic pain

(2014) Jordi Miró et al.   MUSCLE & NERVE

Myotonic Dystrophy

(2014) Charles A. Thornton   NEUROLOGIC CLINICS

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

(2014) Jason W. Hoskins et al.   NUCLEIC ACIDS RESEARCH

Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1)

(2014) Stéphane Jean et al.   Orphanet Journal of Rare Diseases

Supine changes in lung function correlate with chronic respiratory failure in myotonic dystrophy patients

(2014) Mathias Poussel et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy

(2014) Marie-Laure Caillet-Boudin et al.   Frontiers in Molecular Neuroscience

Reducing Levels of Toxic RNA with Small Molecules

(2013) Leslie A. Coonrod et al.   ACS Chemical Biology

Splicing biomarkers of disease severity in myotonic dystrophy

(2013) Masayuki Nakamori et al.   ANNALS OF NEUROLOGY

High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines

(2013) Ami Ketley et al.   HUMAN MOLECULAR GENETICS

Repeat-associated non-ATG (RAN) translation in neurological disease

(2013) J. D. Cleary et al.   HUMAN MOLECULAR GENETICS

Diagnostic odyssey of patients with myotonic dystrophy

(2013) James E. Hilbert et al.   JOURNAL OF NEUROLOGY

Congenital Myotonic Dystrophy: Canadian Population-Based Surveillance Study

(2013) Craig Campbell et al.   JOURNAL OF PEDIATRICS

Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2

(2013) Rosanna Cardani et al.   PLoS One

Autonomic regulation in muscular dystrophy

(2013) Corrado Angelini et al.   Frontiers in Physiology

What is the best way to detect infra-Hisian conduction abnormalities and prevent sudden cardiac death in myotonic dystrophy?

(2012) Denis Duboc et al.   HEART

The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): Long-term outcomes

(2012) V.A. Sansone et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Electrophysiological Study With Prophylactic Pacing and Survival in Adults With Myotonic Dystrophy and Conduction System Disease

(2012) Karim Wahbi et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

GSK3β mediates muscle pathology in myotonic dystrophy

(2012) Karlie Jones et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2012) Krzysztof Sobczak et al.   MOLECULAR THERAPY

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

(2012) Thurman M. Wheeler et al.   NATURE

Modafinil for excessive daytime sleepiness in myotonic dystrophy type 1 – The patients’ perspective

(2012) D. Hilton-Jones et al.   NEUROMUSCULAR DISORDERS

Gain of RNA function in pathological cases: Focus on myotonic dystrophy

(2011) A.F. Klein et al.   BIOCHIMIE

Cardiac Involvement in Patients With Muscular Dystrophies

(2011) David Verhaert et al.   Circulation-Cardiovascular Imaging

IgG deficiency and expansion of CTG repeats in myotonic dystrophy

(2011) Pierre Kaminsky et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

(2011) Tiina Suominen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cancer Risk Among Patients With Myotonic Muscular Dystrophy

(2011) Shahinaz M. Gadalla et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Feasibility and effects of a physical exercise programme in adults with myotonic dystrophy type 1: A randomized controlled pilot study

(2011) M Kierkegaard et al.   JOURNAL OF REHABILITATION MEDICINE

Peripheral neuropathy in myotonic dystrophy type 1

(2011) Mieke C. E. Hermans et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

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

(2011) Masayuki Nakamori et al.   MOLECULAR THERAPY

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

(2011) Charlotte Fugier et al.   NATURE MEDICINE

Sleep breathing disorders in 40 Italian patients with Myotonic dystrophy type 1

(2011) Alessandro Pincherle et al.   NEUROMUSCULAR DISORDERS

Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2

(2010) Olayinka Raheem et al.   AMERICAN JOURNAL OF PATHOLOGY

Toward Understanding Cognitive Impairment in Patients with Myotonic Dystrophy Type 1

(2010) I. Zalonis et al.   ARCHIVES OF CLINICAL NEUROPSYCHOLOGY

Bacterial overgrowth syndrome in myotonic muscular dystrophy is potentially treatable

(2010) Mark A. Tarnopolsky et al.   MUSCLE & NERVE

Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1

(2010) E. L. Logigian et al.   NEUROLOGY

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pentamidine reverses the splicing defects associated with myotonic dystrophy

(2009) M. B. Warf et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2009) T. M. Wheeler et al.   SCIENCE