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| 36689846 | Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy. | Neuromuscul Disord | 2023 |
| 35179231 | Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study. | Muscle Nerve | 2022 |
| 35381069 | Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. | JAMA | 2022 |
| 35506767 | Comparison of strength testing modalities in dysferlinopathy. | Muscle Nerve | 2022 |
| 35373496 | Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy. | J Cachexia Sarcopenia Muscle | 2022 |
| 36058852 | Water T2 could predict functional decline in patients with dysferlinopathy. | J Cachexia Sarcopenia Muscle | 2022 |
| 34857536 | Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy. | Neurology | 2022 |
| 34840880 | Preventing Cardiomyopathy in DMD: A Randomized Placebo-Controlled Drug Trial. | Neurol Clin Pract | 2021 |
| 33610434 | Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease. | Neuromuscul Disord | 2021 |
| 32403198 | GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. | Ann Neurol | 2020 |
| 33391171 | Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy. | Front Neurol | 2020 |
| 32719714 | Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy. | Front Genet | 2020 |
| 29254382 | Psychometric properties of the Zarit Caregiver Burden Interview administered to caregivers to patients with Duchenne muscular dystrophy: a Rasch analysis. | Disabil Rehabil | 2019 |
| 31451516 | Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function. | Neurology | 2019 |
| 30855644 | Fractures and Linear Growth in a Nationwide Cohort of Boys With Duchenne Muscular Dystrophy With and Without Glucocorticoid Treatment: Results From the UK NorthStar Database. | JAMA Neurol | 2019 |
| 30626655 | Assessment of disease progression in dysferlinopathy: A 1-year cohort study. | Neurology | 2019 |
| 29198861 | Compliance to care guidelines for Duchenne muscular dystrophy in Italy. | Neuromuscul Disord | 2018 |
| 30573480 | Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study. | BMJ Open | 2018 |
| 30275245 | Neurology Care, Diagnostics, and Emerging Therapies of the Patient With Duchenne Muscular Dystrophy. | Pediatrics | 2018 |
| 29691892 | Congenital Titinopathy: Comprehensive characterization and pathogenic insights. | Ann Neurol | 2018 |
| 29466827 | Psychometric analysis of the pediatric quality of life inventory 3.0 neuromuscular module administered to patients with duchenne muscular dystrophy: A rasch analysis. | Muscle Nerve | 2018 |
| 29793540 | A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. | Trials | 2018 |
| 29437916 | Mobility shift of beta-dystroglycan as a marker of <i>GMPPB</i> gene-related muscular dystrophy. | J Neurol Neurosurg Psychiatry | 2018 |
| 29378789 | Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study. | J Neurol Neurosurg Psychiatry | 2018 |
| 29398641 | Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. | Lancet Neurol | 2018 |
| 29735511 | Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. | J Neurol Neurosurg Psychiatry | 2018 |
| 29395990 | Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. | Lancet Neurol | 2018 |
| 29395989 | Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. | Lancet Neurol | 2018 |
| 29128256 | MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes. | Neuromuscul Disord | 2018 |
| 27798808 | Economic Evaluation in Duchenne Muscular Dystrophy: Model Frameworks for Cost-Effectiveness Analysis. | Pharmacoeconomics | 2017 |
| 28087401 | How the EUCERD Joint Action supported initiatives on Rare Diseases. | Eur J Med Genet | 2017 |
| 28222119 | Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool. | PLoS One | 2017 |
| 28190456 | Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. | Am J Hum Genet | 2017 |
| 28450193 | Developing standardized corticosteroid treatment for Duchenne muscular dystrophy. | Contemp Clin Trials | 2017 |
| 28175989 | Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries. | J Neurol | 2017 |
| 29125504 | Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. | J Neuromuscul Dis | 2017 |
| 29214566 | Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework. | Adv Exp Med Biol | 2017 |
| 28624464 | Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. | Neuromuscul Disord | 2017 |
| 28807665 | A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis. | Neuromuscul Disord | 2017 |
| 28877744 | Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. | Orphanet J Rare Dis | 2017 |
| 28716623 | A 'second truncation' in TTN causes early onset recessive muscular dystrophy. | Neuromuscul Disord | 2017 |
| 28688748 | Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. | Neuromuscul Disord | 2017 |
| 28683502 | Translational Research in Europe for the Assessment and Treatment for Neuromuscular Disorders (TREAT-NMD). | Neuropediatrics | 2017 |
| 27932089 | Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations. | Neuromuscul Disord | 2017 |
| 27761893 | Cardiac involvement in female carriers of duchenne or becker muscular dystrophy. | Muscle Nerve | 2017 |
| 25952333 | Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family. | J Neurol Neurosurg Psychiatry | 2016 |
| 26599341 | Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy. | Muscle Nerve | 2016 |
| 26483095 | Health-related quality of life in patients with Duchenne muscular dystrophy: a multinational, cross-sectional study. | Dev Med Child Neurol | 2016 |
| 27602406 | The Clinical Outcome Study for dysferlinopathy: An international multicenter study. | Neurol Genet | 2016 |
| 27911335 | European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences. | J Neuromuscul Dis | 2016 |