|
| 37980682 | Findings from the Longitudinal CINRG Becker Natural History Study. | J Neuromuscul Dis | 2024 |
| 38086156 | Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial. | EBioMedicine | 2024 |
| 36872785 | Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen. | J Neuromuscul Dis | 2023 |
| 38009078 | A Virtual Reality Exergame: Clinician-Guided Breathing and Relaxation for Children with Muscular Dystrophy. | 2023 IEEE Conf Virtual Real 3D User Interfaces Abstr Workshops | 2023 |
| 37119330 | AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model. | Acta Neuropathol | 2023 |
| 37409780 | Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study. | Muscle Nerve | 2023 |
| 36911944 | Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG). | J Neuromuscul Dis | 2023 |
| 35076703 | Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial. | JAMA Netw Open | 2022 |
| 35381069 | Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. | JAMA | 2022 |
| 35694931 | INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. | J Neuromuscul Dis | 2022 |
| 35567422 | An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy. | Ann Clin Transl Neurol | 2022 |
| 36036925 | Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. | JAMA Neurol | 2022 |
| 35080757 | Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model. | CNS Drugs | 2022 |
| 34105177 | Safety, tolerability, and pharmacokinetics of casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: A randomized, double-blind, placebo-controlled, dose-titration trial. | Muscle Nerve | 2021 |
| 33743238 | Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial. | Lancet Neurol | 2021 |
| 33624184 | Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study. | Neurotherapeutics | 2021 |
| 34731415 | Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study. | Neurotherapeutics | 2021 |
| 31484632 | Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. | Arch Dis Child | 2020 |
| 31724199 | Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement. | Muscle Nerve | 2020 |
| 32007960 | Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2. | J Neuromuscul Dis | 2020 |
| 33217308 | Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores. | Am J Hum Genet | 2020 |
| 33304089 | Outcome Measures for <i>COL6</i> and <i>LAMA2</i>-Related Dystrophies. | Pediatr Neurol Briefs | 2020 |
| 33075081 | Medical management of muscle weakness in Duchenne muscular dystrophy. | PLoS One | 2020 |
| 32710634 | Combination molecular therapies for type 1 spinal muscular atrophy. | Muscle Nerve | 2020 |
| 32956407 | Efficacy and safety of vamorolone in Duchenne muscular dystrophy:Â An 18-month interim analysis of a non-randomized open-label extension study. | PLoS Med | 2020 |
| 32444173 | Difficulties classifying myasthenia gravis in the pediatric surgical literature. | J Pediatr Surg | 2020 |
| 32329921 | Spinal muscular atrophy care in the COVID-19 pandemic era. | Muscle Nerve | 2020 |
| 32564389 | The CINRG Becker Natural History Study: Baseline characteristics. | Muscle Nerve | 2020 |
| 30962487 | Moderate exercise improves function and increases adiponectin in the mdx mouse model of muscular dystrophy. | Sci Rep | 2019 |
| 31704158 | Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. | Neuromuscul Disord | 2019 |
| 31852847 | Pulsed glucocorticoids enhance dystrophic muscle performance through epigenetic-metabolic reprogramming. | JCI Insight | 2019 |
| 31451516 | Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function. | Neurology | 2019 |
| 31247408 | Pediatric Cancer Patients' Treatment Journey: Child, Adolescent, and Young Adult Cancer Narratives. | J Pediatr Nurs | 2019 |
| 30706490 | Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy. | Muscle Nerve | 2019 |
| 29149770 | A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study. | Muscle Nerve | 2018 |
| 30219580 | Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug. | Pharmacol Res | 2018 |
| 30094386 | Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA! | Contemp Clin Trials Commun | 2018 |
| 29878873 | Novel methods of imaging and analysis for the thermoregulatory sweat test. | J Appl Physiol (1985) | 2018 |
| 30450477 | Autonomic Nervous System Dysregulation in Monozygous Twins With Nephropathic Cystinosis. | Kidney Int Rep | 2018 |
| 29614695 | Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. | J Neuromuscul Dis | 2018 |
| 29443664 | Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. | N Engl J Med | 2018 |
| 29793540 | A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. | Trials | 2018 |
| 29091570 | Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. | N Engl J Med | 2017 |
| 28450193 | Developing standardized corticosteroid treatment for Duchenne muscular dystrophy. | Contemp Clin Trials | 2017 |
| 29149772 | Natural history of infantile-onset spinal muscular atrophy. | Ann Neurol | 2017 |
| 26900585 | Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study. | Ann Clin Transl Neurol | 2016 |
| 27358333 | International consensus guidance for management of myasthenia gravis: Executive summary. | Neurology | 2016 |
| 26933528 | Delay in Diagnosis of Duchenne Muscular Dystrophy. | Pediatr Neurol Briefs | 2015 |
| 26933574 | Axonal Damage in Pediatric Multiple Sclerosis. | Pediatr Neurol Briefs | 2015 |
| 26933540 | Hereditary Neuropathy with Liability to Pressure Palsies. | Pediatr Neurol Briefs | 2015 |