|
| 37980678 | Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data. | J Neuromuscul Dis | 2024 |
| 36203352 | Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study. | Ann Neurol | 2023 |
| 37691296 | Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification. | Ann Clin Transl Neurol | 2023 |
| 37568304 | Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function. | J Clin Med | 2023 |
| 37393513 | DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results. | J Neuromuscul Dis | 2023 |
| 36947133 | Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history. | Brain | 2023 |
| 37284795 | Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. | Brain | 2023 |
| 37212069 | Development of an International SMA Bulbar Assessment for Inter-professional Administration. | J Neuromuscul Dis | 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 |
| 37380432 | Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease. | Neurology | 2023 |
| 37166413 | Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7â¿¿years. | J Peripher Nerv Syst | 2023 |
| 36854952 | A review of economic issues for gene-targeted therapies: Value, affordability, and access. | Am J Med Genet C Semin Med Genet | 2023 |
| 36748295 | Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure. | J Peripher Nerv Syst | 2023 |
| 36688577 | Gene-targeted therapies: Towards equitable development, diagnosis, and access. | Am J Med Genet C Semin Med Genet | 2023 |
| 36911944 | Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG). | J Neuromuscul Dis | 2023 |
| 36905929 | Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophin. | Med | 2023 |
| 36902710 | 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants. | J Clin Med | 2023 |
| 36891823 | Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints. | Ann Neurol | 2023 |
| 36594517 | Data sharing to advance gene-targeted therapies in rare diseases. | Am J Med Genet C Semin Med Genet | 2023 |
| 34263472 | Assessing the ability of boys with Duchenne muscular dystrophy age 4-7 years to swallow softgel capsules: Clinical trial experience with edasalonexent. | J Clin Pharm Ther | 2022 |
| 35381069 | Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. | JAMA | 2022 |
| 35577540 | Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients. | Arch Dis Child | 2022 |
| 35466946 | Step Activity Monitoring in Boys with Duchenne Muscular Dystrophy and its Correlation with Magnetic Resonance Measures and Functional Performance. | J Neuromuscul Dis | 2022 |
| 35429273 | Pre-symptomatic spinal muscular atrophy: a proposed nosology. | Brain | 2022 |
| 35567345 | Scientific rationale for a higher dose of nusinersen. | Ann Clin Transl Neurol | 2022 |
| 35715567 | Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. | Nat Med | 2022 |
| 35715566 | Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. | Nat Med | 2022 |
| 35812575 | The Use of Autologous Blood Patch in Ullrich Muscular Dystrophy and Recurrent Pneumothorax. | Cureus | 2022 |
| 35385150 | Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States. | Muscle Nerve | 2022 |
| 36036925 | Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. | JAMA Neurol | 2022 |
| 35927425 | Spinal muscular atrophy. | Nat Rev Dis Primers | 2022 |
| 35256766 | Friend or Foe(tal): challenges in development of a large animal model for pre-clinical fetal gene therapy. | Gene Ther | 2022 |
| 34980538 | Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes. | Neuromuscul Disord | 2022 |
| 34940960 | Correction to: Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy. | Drug Saf | 2022 |
| 35144755 | Corrigendum to 'Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen': Neuromuscular Disorders 31 (2021) 310-318/doi: 10.1016/j.nmd.2021.02.014. | Neuromuscul Disord | 2022 |
| 35140138 | Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease. | J Neurol Neurosurg Psychiatry | 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 |
| 35165973 | Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy. | Hum Mutat | 2022 |
| 35076703 | Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial. | JAMA Netw Open | 2022 |
| 34677606 | Preventing amyotrophic lateral sclerosis: insights from pre-symptomatic neurodegenerative diseases. | Brain | 2022 |
| 33067401 | Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study. | Neurology | 2021 |
| 33768131 | Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec. | Mol Ther Methods Clin Dev | 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 |
| 33678513 | Disease-modifying effects of edasalonexent, an NF-κB inhibitor, in young boys with Duchenne muscular dystrophy: Results of the MoveDMD phase 2 and open label extension trial. | Neuromuscul Disord | 2021 |
| 33781694 | Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen. | Neuromuscul Disord | 2021 |
| 34383289 | Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy. | Drug Saf | 2021 |
| 34645478 | Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis. | Orphanet J Rare Dis | 2021 |
| 34493614 | Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease. | Neurology | 2021 |
| 34731415 | Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study. | Neurotherapeutics | 2021 |