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Privacy-aware community infrastructureWladimir Bocca Vieira de Rezende Pinto, Paulo Sgobbi
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Gene replacement therapy for spinal muscular atrophy: safety and preliminary efficacy in a Brazilian cohort
10.1038/s41434-024-00456-y · doi-reference
Single-dose gene-replacement therapy for spinal muscular atrophy
10.1056/nejmoa1706198 · doi-reference
Five-year extension results of the phase 1 START trial of onasemnogene abeparvovec in spinal muscular atrophy
10.1001/jamaneurol.2021.1272 · doi-reference
Clinical perspectives: treating spinal muscular atrophy
10.1016/j.ymthe.2024.06.020 · doi-reference
Safety and efficacy of IV onasemnogene abeparvovec for pediatric patients with spinal muscular atrophy: the phase 3b SMART study
10.1212/wnl.0000000000210268 · doi-reference
Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice
10.1093/nsr/nwz131 · doi-reference
2024 update: european consensus statement on gene therapy for spinal muscular atrophy
10.1016/j.ejpn.2024.06.001 · doi-reference
Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy
10.1002/mus.27363 · doi-reference
Disease modifying therapies for the management of children with spinal muscular atrophy (5q SMA): an update on the emerging evidence
10.2147/dddt.s214174 · doi-reference
Therapeutic strategy for spinal muscular atrophy by combining gene supplementation and genome editing
10.1038/s41467-024-50095-5 · doi-reference
Motor unit number index (MUNIX) of hand muscles is a disease biomarker for adult spinal muscular atrophy
10.1016/j.clinph.2018.11.009 · doi-reference
Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy
10.1182/bloodadvances.2021006419 · doi-reference
Neuronal-specific roles of the survival motor neuron protein: evidence from survival motor neuron expression patterns in the developing human central nervous system
10.1097/01.jnen.0000205144.54457.a3 · doi-reference
Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
10.1016/j.nmd.2017.11.004 · doi-reference
Intrathecal onasemnogene abeparvovec for sitting, nonambulatory patients with spinal muscular atrophy: phase i ascending-dose study (STRONG)
10.3233/jnd-221560 · doi-reference
The genetics of spinal muscular atrophy: progress and challenges
10.1007/s13311-014-0314-x · doi-reference
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment
10.1186/s13023-024-03326-3 · doi-reference
Treatment strategies for patients with spinal muscular atrophy
10.1080/14737175.2024.2439486 · doi-reference
Adeno-associated virus serotype 9 antibody seroprevalence for patients in the United States with spinal muscular atrophy
10.1016/j.omtm.2023.101117 · doi-reference
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
10.1016/s1474-4422(21)00001-6 · doi-reference
Gene-based therapy for the treatment of spinal muscular atrophy types 1 and 2: a systematic review and meta-analysis
10.1038/s41434-024-00503-8 · doi-reference