Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study

Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies

(2019) Liang Wang et al.   Frontiers in Genetics

Association of Antiviral Therapy With Risk of Parkinson Disease in Patients With Chronic Hepatitis C Virus Infection

(2019) Wey-Yil Lin et al.   JAMA Neurology

Early Versus Late Surgical Decompression for Central Cord Syndrome: A Propensity Score-Matched Analysis

(2019) Jetan H Badhiwala et al.   NEUROSURGERY

Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy

(2019) Francesco Muntoni et al.   PLoS One

Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry

(2019) Francesco Muntoni et al.   Journal of Comparative Effectiveness Research

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study

(2018) Craig M McDonald et al.   LANCET

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

(2018) David J Birnkrant et al.   LANCET NEUROLOGY

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

(2018) David J Birnkrant et al.   LANCET NEUROLOGY

Longitudinal Pulmonary Function Testing Outcome Measures in Duchenne Muscular Dystrophy: Long-term Natural History with and without Glucocorticoids

(2018) Craig M. McDonald et al.   NEUROMUSCULAR DISORDERS

DMD Open-access Variant Explorer (DOVE): A scalable, open-access, web-based tool to aid in clinical interpretation of genetic variants in the DMD gene

(2018) Mitchell Bailey et al.   Molecular Genetics & Genomic Medicine

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

(2017) Craig M McDonald et al.   LANCET

Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged ≤3 Years: A Retrospective Study

(2017) Liang Wang et al.   Frontiers in Neurology

The importance of genetic diagnosis for Duchenne muscular dystrophy

(2016) Annemieke Aartsma-Rus et al.   JOURNAL OF MEDICAL GENETICS

DMDgenotypes and loss of ambulation in the CINRG Duchenne Natural History Study

(2016) Luca Bello et al.   NEUROLOGY

Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression

(2016) Bijoyita Roy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Statistics in Brief: An Introduction to the Use of Propensity Scores

(2015) Maria C. S. Inacio et al.   CLINICAL ORTHOPAEDICS AND RELATED RESEARCH

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

(2015) Catherine L. Bladen et al.   HUMAN MUTATION

Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples

(2015) Chiara S.M. Straathof et al.   MUSCLE & NERVE

Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study

(2015) Luca Bello et al.   NEUROLOGY

A Community-Engaged Approach to Quantifying Caregiver Preferences for the Benefits and Risks of Emerging Therapies for Duchenne Muscular Dystrophy

(2014) Holly L. Peay et al.   CLINICAL THERAPEUTICS

Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy

(2014) Christopher Spurney et al.   MUSCLE & NERVE

Ataluren treatment of patients with nonsense mutation dystrophinopathy

(2014) Katharine Bushby et al.   MUSCLE & NERVE

Exon identity crisis: disease-causing mutations that disrupt the splicing code

(2014) Timothy Sterne-Weiler et al.   GENOME BIOLOGY

The cooperative international neuromuscular research group duchenne natural history study-a longitudinal investigation in the era of glucocorticoid therapy: Design of protocol and the methods used

(2013) Craig M. McDonald et al.   MUSCLE & NERVE

THE 6-minute walk test and other endpoints in Duchenne muscular dystrophy: Longitudinal natural history observations over 48 weeks from a multicenter study

(2013) Craig M. Mcdonald et al.   MUSCLE & NERVE

195th ENMC International Workshop: Newborn screening for Duchenne muscular dystrophy 14–16th December, 2012, Naarden, The Netherlands

(2013) Juliet A. Ellis et al.   NEUROMUSCULAR DISORDERS

P.2.11 CINRG Duchenne Natural History Study: Relationship of longitudinal measures of ambulatory timed function tests and loss of clinical milestones

(2013) C.M. McDonald et al.   NEUROMUSCULAR DISORDERS

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

(2013) Jonàs Juan-Mateu et al.   PLoS One

Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

(2013) Richard S. Finkel et al.   PLoS One

Ataluren as an Agent for Therapeutic Nonsense Suppression

(2012) Stuart W. Peltz et al.   Annual Review of Medicine

Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy

(2012) V. Ricotti et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

(2011) Véronique Humbertclaude et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Current Status of Pharmaceutical and Genetic Therapeutic Approaches to Treat DMD

(2011) Christophe Pichavant et al.   MOLECULAR THERAPY

Relationship Between Clinical Outcome Measures and Parent Proxy Reports of Health-Related Quality of Life in Ambulatory Children With Duchenne Muscular Dystrophy

(2010) Craig M. McDonald et al.   JOURNAL OF CHILD NEUROLOGY

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

(2010) Yasuhiro Takeshima et al.   JOURNAL OF HUMAN GENETICS

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

(2009) F. Daoud et al.   HUMAN MOLECULAR GENETICS

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

(2009) Katharine Bushby et al.   LANCET NEUROLOGY