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Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

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Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

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Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant

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Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

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Spinal Muscular Atrophy

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Current clinical applications of in vivo gene therapy with AAVs

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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

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Nucleic acid delivery for therapeutic applications

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Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care

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Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial

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Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next

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New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges

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Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy

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Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study

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Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue

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Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data

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Onasemnogene Abeparvovec-xioi: Gene Therapy for Spinal Muscular Atrophy

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Muscle strength and motor function in adolescents and adults with spinal muscular atrophy

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Clinical development on the frontier: gene therapy for duchenne muscular dystrophy

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Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord

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Engineering Gene Therapy: Advances and Barriers

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Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry

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Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy

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Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)

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Delivery of Adeno-Associated Virus Vectors to the Central Nervous System for Correction of Single Gene Disorders

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Update on Biomarkers in Spinal Muscular Atrophy

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Current and emerging treatment modalities for spinocerebellar ataxias

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Clinical applications of gene therapy for rare diseases: A review

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RNA interference (RNAi)-based therapeutics for treatment of rare neurologic diseases

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Circumventing the packaging limit of AAV-mediated gene replacement therapy for neurological disorders

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Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future

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An updated systematic review on spinal muscular atrophy patients treated with nusinersen, onasemnogene abeparvovec (at least 24 months), risdiplam (at least 12 months) or combination therapies

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Clinical Development of Gene Therapies: The First Three Decades and Counting

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Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen

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Prognostic Factors and Treatment‐Effect Modifiers in Spinal Muscular Atrophy

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Gene therapy for spinal muscular atrophy: the Qatari experience

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CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening

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Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes

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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

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Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom

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Trajectory of change in the swallowing status in spinal muscular atrophy type I

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Beyond the Traditional Clinical Trials for Amyotrophic Lateral Sclerosis and The Future Impact of Gene Therapy

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Unmet Needs and Evolving Treatment for Limb Girdle Muscular Dystrophies

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The Spinal Muscular Atrophy Health Index: A novel outcome for measuring how a patient feels and functions

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The respiratory impact of novel therapies for spinal muscular atrophy

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Onasemnogene abeparvovec for the treatment of spinal muscular atrophy

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Adeno-Associated Virus (AAV-DJ)—Cryo-EM Structure at 1.56 Å Resolution

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Onasemnogene Abeparvovec (AVXS-101) for the Treatment of Spinal Muscular Atrophy

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Biomarkers in 5q-associated spinal muscular atrophy—a narrative review

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Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results

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Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy

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Systematic Review of Motor Function Scales and Patient-Reported Outcomes in Spinal Muscular Atrophy

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Benchmarking of Scale-X Bioreactor System in Lentiviral and Adenoviral Vector Production

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Spinal Muscular Atrophy after Nusinersen Therapy: Improved Physiology in Pediatric Patients with No Significant Change in Urine, Serum, and Liquor 1H-NMR Metabolomes in Comparison to an Age-Matched, Healthy Cohort

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Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy

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Identifying Biomarkers of Spinal Muscular Atrophy for Further Development

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Epithelioid neoplasm of the spinal cord in a child with spinal muscular atrophy treated with onasemnogene abeparvovec

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Fetal gene therapy and pharmacotherapy to treat congenital hearing loss and vestibular dysfunction

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Matching-adjusted indirect treatment comparison of onasemnogene abeparvovec and nusinersen for the treatment of symptomatic patients with spinal muscular atrophy type 1

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Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management

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PCR-Based Analytical Methods for Quantification and Quality Control of Recombinant Adeno-Associated Viral Vector Preparations

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Evaluation of risdiplam efficacy in 5q spinal muscular atrophy: A systematic comparison of electrophysiologic with clinical outcome measures

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Unique structural features govern the activity of a human mitochondrial AAA+ disaggregase, Skd3

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Natural history of 10-meter walk/run test performance in spinal muscular atrophy: A longitudinal analysis

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Impairment of the neurotrophic signaling hub B-Raf contributes to motoneuron degeneration in spinal muscular atrophy

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A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy

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Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy

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Human OPRM1 and murine Oprm1 promoter driven viral constructs for genetic access to μ-opioidergic cell types

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