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

Muscle & nerve, 2022-05, Vol.65 (5), p.560-567

2022

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Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology

Neurology, 2016-02, Vol.86 (5), p.465

2016

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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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Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy

Neurology, 2016-11, Vol.87 (20), p.2123

2016

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Change in Natural History of Duchenne Muscular Dystrophy With Long-term Corticosteroid Treatment: Implications for Management

Journal of child neurology, 2010-09, Vol.25 (9), p.1116-1129

2010

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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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Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2)

Neurology, 2015-12, Vol.85 (24), p.2136

2015

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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)

Contemporary clinical trials, 2012-03, Vol.33 (2), p.302-311

2012

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Parent‐reported multi‐national study of the impact of congenital and childhood onset myotonic dystrophy

Developmental medicine and child neurology, 2016-07, Vol.58 (7), p.698-705

2016

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

Muscle & nerve, 2016-02, Vol.53 (2), p.183-190

2016

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Diagnostic odyssey of patients with myotonic dystrophy

Journal of neurology, 2013-10, Vol.260 (10), p.2497-2504

2013

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

Neurology, 2018-04, Vol.90 (17), p.814

2018

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Cancer risk among patients with myotonic muscular dystrophy

JAMA : the journal of the American Medical Association, 2011-12, Vol.306 (22), p.2480

2011

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Patient‐reported study of the impact of pediatric‐onset myotonic dystrophy

Muscle & nerve, 2019-10, Vol.60 (4), p.392-399

2019

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The Impact of Congenital and Childhood Myotonic Dystrophy on Quality of Life: A Qualitative Study of Associated Symptoms

Journal of child neurology, 2014-07, Vol.29 (7), p.983-986

2014

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Correlates of tumor development in patients with myotonic dystrophy

Journal of neurology, 2012-10, Vol.259 (10), p.2161-2166

2012

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Weekend high-dosage prednisone: a new option for treatment of Duchenne muscular dystrophy

Neurology, 2011-08, Vol.77 (5), p.416

2011

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Quantifying cancer absolute risk and cancer mortality in the presence of competing events after a myotonic dystrophy diagnosis

PloS one, 2013-11, Vol.8 (11), p.e79851-e79851

2013

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The Nondystrophic Myotonias

Neurotherapeutics, 2007-04, Vol.4 (2), p.238-251

2007

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Hypothesis: neoplasms in myotonic dystrophy

Cancer causes & control, 2009-12, Vol.20 (10), p.2009-2020

2009

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

Muscle & nerve, 2007-04, Vol.35 (4), p.479-485

2007

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New Insights About the Incidence, Multisystem Manifestations, and Care of Patients with Congenital Myotonic Dystrophy

The Journal of pediatrics, 2013-07, Vol.163 (1), p.12-14

2013

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Myotonic dystrophy type 2 and related myotonic disorders

Journal of neurology, 2004-10, Vol.251 (10), p.1173-1182

2004

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Development of a Genomic DNA Reference Material Panel for Myotonic Dystrophy Type 1 (DM1) Genetic Testing

The Journal of molecular diagnostics : JMD, 2013-07, Vol.15 (4), p.518-525

2013

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

Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology

A call for transparent reporting to optimize the predictive value of preclinical research

Splicing biomarkers of disease severity in myotonic dystrophy

Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy

Change in Natural History of Duchenne Muscular Dystrophy With Long-term Corticosteroid Treatment: Implications for Management

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

Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2)

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)

Parent‐reported multi‐national study of the impact of congenital and childhood onset myotonic dystrophy

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

Diagnostic odyssey of patients with myotonic dystrophy

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

Cancer risk among patients with myotonic muscular dystrophy

Patient‐reported study of the impact of pediatric‐onset myotonic dystrophy

The Impact of Congenital and Childhood Myotonic Dystrophy on Quality of Life: A Qualitative Study of Associated Symptoms

Correlates of tumor development in patients with myotonic dystrophy

Weekend high-dosage prednisone: a new option for treatment of Duchenne muscular dystrophy

Quantifying cancer absolute risk and cancer mortality in the presence of competing events after a myotonic dystrophy diagnosis

The Nondystrophic Myotonias

Hypothesis: neoplasms in myotonic dystrophy

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

New Insights About the Incidence, Multisystem Manifestations, and Care of Patients with Congenital Myotonic Dystrophy

Myotonic dystrophy type 2 and related myotonic disorders

Development of a Genomic DNA Reference Material Panel for Myotonic Dystrophy Type 1 (DM1) Genetic Testing

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