|
| 36314213 | Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA. | J Neuromuscul Dis | 2023 |
| 37661906 | Erratum to: Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment. | J Neuromuscul Dis | 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 |
| 37458045 | Identifying Biomarkers of Spinal Muscular Atrophy for Further Development. | J Neuromuscul Dis | 2023 |
| 37086214 | Translating fatigability in spinal muscular atrophy to clinical trials and management. | Muscle Nerve | 2023 |
| 37455203 | Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial. | Neuromuscul Disord | 2023 |
| 37280644 | Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States. | Orphanet J Rare Dis | 2023 |
| 37092232 | Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment. | J Neuromuscul Dis | 2023 |
| 36911944 | Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG). | J Neuromuscul Dis | 2023 |
| 36776075 | Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes. | J Neuromuscul Dis | 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 |
| 36799992 | Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. | Acta Neuropathol | 2023 |
| 34822770 | A tale of two diseases: spinal muscular atrophy and Pompe disease. | Lancet Child Adolesc Health | 2022 |
| 35381069 | Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. | JAMA | 2022 |
| 35734998 | Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy. | Ann Clin Transl Neurol | 2022 |
| 35636280 | Nusinersen for Patients With Spinal Muscular Atrophy: 1415 Doses via an Interdisciplinary Institutional Approach. | Pediatr Neurol | 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 |
| 35927425 | Spinal muscular atrophy. | Nat Rev Dis Primers | 2022 |
| 35254387 | Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. | JAMA Neurol | 2022 |
| 34981567 | Ethical Perspectives on Treatment Options with Spinal Muscular Atrophy Patients. | Ann Neurol | 2022 |
| 34980538 | Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes. | Neuromuscul Disord | 2022 |
| 35332578 | Reply to: The 4-Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy. | Ann Neurol | 2022 |
| 33067401 | Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study. | Neurology | 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 |
| 33626251 | Risdiplam in Type 1 Spinal Muscular Atrophy. | N Engl J Med | 2021 |
| 33624184 | Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study. | Neurotherapeutics | 2021 |
| 33847017 | Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. | Hum Mutat | 2021 |
| 33822657 | Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future. | Am J Speech Lang Pathol | 2021 |
| 33896693 | Putting the patient first: The validity and value of surface-based electrical impedance myography techniques. | Clin Neurophysiol | 2021 |
| 34731415 | Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study. | Neurotherapeutics | 2021 |
| 34693725 | Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy. | J Comp Eff Res | 2021 |
| 34476123 | Nusinersen Treatment in Adults With Spinal Muscular Atrophy. | Neurol Clin Pract | 2021 |
| 34327716 | Different trajectories in upper limb and gross motor function in spinal muscular atrophy. | Muscle Nerve | 2021 |
| 34275913 | Psychometric properties of the PEDI-CAT for children and youth with spinal muscular atrophy. | J Pediatr Rehabil Med | 2021 |
| 34071063 | Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy. | Int J Neonatal Screen | 2021 |
| 34099377 | Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen. | Neuromuscul Disord | 2021 |
| 34320287 | Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls. | N Engl J Med | 2021 |
| 34165911 | Nusinersen in pediatric and adult patients with type III spinal muscular atrophy. | Ann Clin Transl Neurol | 2021 |
| 33051879 | Yeo and Darras: Extraneuronal Phenotypes of Spinal Muscular Atrophy. | Ann Neurol | 2021 |
| 31599456 | Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta-analysis of disease progression rates in recent multicenter clinical trials. | Muscle Nerve | 2020 |
| 31876124 | Electrical impedance myography for reducing sample size in Duchenne muscular dystrophy trials. | Ann Clin Transl Neurol | 2020 |
| 32083590 | Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy1. | J Neuromuscul Dis | 2020 |
| 31896288 | Response to "The Spectrum of Neuromuscular Disorders Admitted to a Pediatric Intensive Care Unit Is Broader Than Anticipated". | J Child Neurol | 2020 |
| 31857255 | A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability. | Eur J Med Genet | 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 |
| 31879850 | The Value of Imaging and Composition-Based Biomarkers in Duchenne Muscular Dystrophy Clinical Trials. | Neurotherapeutics | 2020 |
| 33075081 | Medical management of muscle weakness in Duchenne muscular dystrophy. | PLoS One | 2020 |
| 32851872 | Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. | J Comp Eff Res | 2020 |
| 32926458 | Clinical Variability in Spinal Muscular Atrophy Type III. | Ann Neurol | 2020 |
| 32979048 | Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. | Brain | 2020 |