Research graph
References from Gene therapy in spinal muscular atrophy (SMA). Local targets link to admitted publications; unresolved targets remain external evidence.
Adeno-associated virus serotype 9 antibody titers in patients with SMA pre-screened for treatment with onasemnogene abeparvovec –routine care evidence
10.1038/s41434-022-00339-0 · 2023 · External reference
Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy
10.1002/ppul.24203 · 2019 · External reference
Optimization of base editors for the functional correction of SMN2 as a treatment for spinal muscular atrophy
10.1038/s41551-023-01132-z · 2024 · External reference
Base editing rescue of spinal muscular atrophy in cells and in mice
10.1126/science.adg6518 · 2023 · External reference
Spinal muscular atrophy: diagnosis and management in a new therapeutic era
10.1002/mus.24497 · 2015 · External reference
Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex
10.1074/jbc.m203478200 · 2002 · External reference
Combination therapies in spinal muscular atrophy: a systematic review
10.1007/s00431-025-06386-0 · 2025 · External reference
Onasemnogene abeparvovec gene replacement therapy for the treatment of spinal muscular atrophy: a real-world observational study
10.1038/s41434-022-00341-6 · 2023 · External reference
Motor and neurocognitive profiles of children with symptomatic spinal muscular atrophy type 1 with two copies of SMN2 before and after treatment: a longitudinal observational study
10.3389/fneur.2024.1326528 · 2024 · External reference
Onasemnogene abeparvovec: a review in spinal muscular atrophy
10.1007/s40263-022-00941-1 · 2022 · External reference
Preexisting antibody assays for gene therapy: considerations on patient selection cutoffs and companion diagnostic requirements
10.1016/j.omtm.2024.101217 · 2024 · External reference
Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy
10.1002/acn3.52213 · 2024 · External reference
Safety of onasemnogene abeparvovec for patients with spinal muscular atrophy 8.5 kg or heavier in a global managed access program
10.1016/j.pediatrneurol.2022.05.001 · 2022 · External reference
Thrombotic microangiopathy following onasemnogene abeparvovec for spinal muscular atrophy: a case series
10.1016/j.jpeds.2020.11.054 · 2021 · External reference
Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy
10.1016/j.jhep.2020.11.001 · 2021 · External 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 · 2025 · External 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 · 2021 · External reference
Adeno-associated virus serotype 9 antibody seroprevalence for patients in the United States with spinal muscular atrophy
10.1016/j.omtm.2023.101117 · 2023 · External reference
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
2020 · External reference
Treatment strategies for patients with spinal muscular atrophy
10.1080/14737175.2024.2439486 · 2025 · External 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 · 2024 · External reference
The genetics of spinal muscular atrophy: progress and challenges
10.1007/s13311-014-0314-x · 2015 · External reference
Intrathecal onasemnogene abeparvovec for sitting, nonambulatory patients with spinal muscular atrophy: phase i ascending-dose study (STRONG)
10.3233/jnd-221560 · 2023 · External 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 · 2018 · External 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 · 2006 · External reference
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
2024 · External reference
Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy
10.1182/bloodadvances.2021006419 · 2022 · External 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 · 2019 · External reference
Gene replacement therapy in spinal muscular atrophy: filling the data gaps
2024 · External reference
Therapeutic strategy for spinal muscular atrophy by combining gene supplementation and genome editing
10.1038/s41467-024-50095-5 · 2024 · External 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 · 2022 · External reference
Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy
10.1002/mus.27363 · 2021 · External reference
2024 update: european consensus statement on gene therapy for spinal muscular atrophy
10.1016/j.ejpn.2024.06.001 · 2024 · External reference
Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice
10.1093/nsr/nwz131 · 2020 · External reference
Safety and efficacy of IV onasemnogene abeparvovec for pediatric patients with spinal muscular atrophy: the phase 3b SMART study
10.1212/wnl.0000000000210268 · 2024 · External reference
Clinical perspectives: treating spinal muscular atrophy
10.1016/j.ymthe.2024.06.020 · 2024 · External reference
Five-year extension results of the phase 1 START trial of onasemnogene abeparvovec in spinal muscular atrophy
10.1001/jamaneurol.2021.1272 · 2021 · External reference
Single-dose gene-replacement therapy for spinal muscular atrophy
10.1056/nejmoa1706198 · 2017 · External reference
Gene replacement therapy for spinal muscular atrophy: safety and preliminary efficacy in a Brazilian cohort
10.1038/s41434-024-00456-y · 2024 · External reference
Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
10.1016/j.nmd.2017.11.005 · 2018 · External reference
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial
10.1016/s1474-4422(21)00251-9 · 2021 · External reference
SMN interacts with a novel family of hnRNP and spliceosomal proteins
10.1093/emboj/20.19.5443 · 2001 · External reference
Spinal muscular atrophy: the past, present, and future of diagnosis and treatment
10.3390/ijms241511939 · 2023 · External reference
Gene therapy for spinal muscular atrophy (SMA): a review of current challenges and safety considerations for onasemnogene abeparvovec (Zolgensma)
2023 · External reference
Onasemnogene abeparvovec in type 1 spinal muscular atrophy: a systematic review and meta-analysis
10.1089/hum.2022.161 · 2023 · External reference
Treatment options in spinal muscular atrophy: a pragmatic approach for clinicians
10.1007/s40265-024-02051-2 · 2024 · External reference
Expanding the availability of onasemnogene abeparvovec to older patients: the evolving treatment landscape for spinal muscular atrophy
10.3390/pharmaceutics15061764 · 2023 · External reference
Safety and tolerability of onasemnogene abeparvovec for patients with spinal muscular atrophy weighing ≤17 kg and ≤24 months old from OFELIA, a phase 4, open-label, multicenter, non-randomised, interventional study
2025 · External reference
Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors
10.1038/s41431-019-0415-4 · 2019 · External reference
Gene therapy for spinal muscular atrophy: timing is key
2024 · External reference
Spinal Muscular Atrophy
10.1212/con.0000000000000918 · 2020 · External reference
Treatment of spinal muscular atrophy with onasemnogene abeparvovec in Switzerland: a prospective observational case series study
10.1186/s12883-023-03133-6 · 2023 · External reference
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
10.1038/s41591-022-01866-4 · 2022 · External reference
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
10.1038/s41591-022-01867-3 · 2022 · External reference
Single-dose intrathecal dorsal root ganglia toxicity of onasemnogene abeparvovec in cynomolgus monkeys
10.1089/hum.2021.255 · 2022 · External reference
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy—A literature review
10.1186/s13023-017-0671-8 · 2017 · External reference
Clinical decision making around commercial use of gene and genetic therapies for spinal muscular atrophy
10.1016/j.neurot.2024.e00437 · 2024 · External reference
Spinal muscular atrophy in the treatment era
10.1016/j.ncl.2020.03.002 · 2020 · External reference
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study
2024 · External reference
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
10.1016/s2352-4642(21)00287-x · 2022 · External reference
Safety and efficacy of gene therapy with onasemnogene abeparvovec in the treatment of spinal muscular atrophy: a systematic review and meta-analysis
10.1111/jpc.16340 · 2023 · External reference
Safety concerns with nusinersen, risdiplam, and onasemnogene abeparvovec in spinal muscular atrophy: a real-world pharmacovigilance study
10.1007/s40261-023-01320-4 · 2023 · External reference
Five-year extension results of the phase 1 START trial of onasemnogene abeparvovec in spinal muscular atrophy
10.1001/jamaneurol.2021.1272 · ExternalCitation · doi-reference
Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy
10.1002/acn3.52213 · ExternalCitation · doi-reference
Spinal muscular atrophy: diagnosis and management in a new therapeutic era
10.1002/mus.24497 · ExternalCitation · doi-reference
Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy
10.1002/mus.27363 · ExternalCitation · doi-reference
Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy
10.1002/ppul.24203 · ExternalCitation · doi-reference
Combination therapies in spinal muscular atrophy: a systematic review
10.1007/s00431-025-06386-0 · ExternalCitation · doi-reference
The genetics of spinal muscular atrophy: progress and challenges
10.1007/s13311-014-0314-x · ExternalCitation · doi-reference
Safety concerns with nusinersen, risdiplam, and onasemnogene abeparvovec in spinal muscular atrophy: a real-world pharmacovigilance study
10.1007/s40261-023-01320-4 · ExternalCitation · doi-reference
Onasemnogene abeparvovec: a review in spinal muscular atrophy
10.1007/s40263-022-00941-1 · ExternalCitation · doi-reference
Treatment options in spinal muscular atrophy: a pragmatic approach for clinicians
10.1007/s40265-024-02051-2 · ExternalCitation · 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 · ExternalCitation · doi-reference
2024 update: european consensus statement on gene therapy for spinal muscular atrophy
10.1016/j.ejpn.2024.06.001 · ExternalCitation · doi-reference
Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy
10.1016/j.jhep.2020.11.001 · ExternalCitation · doi-reference
Thrombotic microangiopathy following onasemnogene abeparvovec for spinal muscular atrophy: a case series
10.1016/j.jpeds.2020.11.054 · ExternalCitation · doi-reference
Spinal muscular atrophy in the treatment era
10.1016/j.ncl.2020.03.002 · ExternalCitation · doi-reference
Clinical decision making around commercial use of gene and genetic therapies for spinal muscular atrophy
10.1016/j.neurot.2024.e00437 · ExternalCitation · 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 · ExternalCitation · doi-reference
Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
10.1016/j.nmd.2017.11.005 · ExternalCitation · 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 · ExternalCitation · doi-reference
Preexisting antibody assays for gene therapy: considerations on patient selection cutoffs and companion diagnostic requirements
10.1016/j.omtm.2024.101217 · ExternalCitation · doi-reference
Safety of onasemnogene abeparvovec for patients with spinal muscular atrophy 8.5 kg or heavier in a global managed access program
10.1016/j.pediatrneurol.2022.05.001 · ExternalCitation · doi-reference
Clinical perspectives: treating spinal muscular atrophy
10.1016/j.ymthe.2024.06.020 · ExternalCitation · 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 · ExternalCitation · doi-reference
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial
10.1016/s1474-4422(21)00251-9 · ExternalCitation · doi-reference
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
10.1016/s2352-4642(21)00287-x · ExternalCitation · doi-reference
Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors
10.1038/s41431-019-0415-4 · ExternalCitation · doi-reference
Adeno-associated virus serotype 9 antibody titers in patients with SMA pre-screened for treatment with onasemnogene abeparvovec –routine care evidence
10.1038/s41434-022-00339-0 · ExternalCitation · doi-reference
Onasemnogene abeparvovec gene replacement therapy for the treatment of spinal muscular atrophy: a real-world observational study
10.1038/s41434-022-00341-6 · ExternalCitation · doi-reference
Gene replacement therapy for spinal muscular atrophy: safety and preliminary efficacy in a Brazilian cohort
10.1038/s41434-024-00456-y · ExternalCitation · 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 · ExternalCitation · doi-reference
Therapeutic strategy for spinal muscular atrophy by combining gene supplementation and genome editing
10.1038/s41467-024-50095-5 · ExternalCitation · doi-reference
Optimization of base editors for the functional correction of SMN2 as a treatment for spinal muscular atrophy
10.1038/s41551-023-01132-z · ExternalCitation · doi-reference
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
10.1038/s41591-022-01866-4 · ExternalCitation · doi-reference
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
10.1038/s41591-022-01867-3 · ExternalCitation · doi-reference
Single-dose gene-replacement therapy for spinal muscular atrophy
10.1056/nejmoa1706198 · ExternalCitation · doi-reference
Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex
10.1074/jbc.m203478200 · ExternalCitation · doi-reference
Treatment strategies for patients with spinal muscular atrophy
10.1080/14737175.2024.2439486 · ExternalCitation · doi-reference
Single-dose intrathecal dorsal root ganglia toxicity of onasemnogene abeparvovec in cynomolgus monkeys
10.1089/hum.2021.255 · ExternalCitation · doi-reference
Onasemnogene abeparvovec in type 1 spinal muscular atrophy: a systematic review and meta-analysis
10.1089/hum.2022.161 · ExternalCitation · doi-reference
SMN interacts with a novel family of hnRNP and spliceosomal proteins
10.1093/emboj/20.19.5443 · ExternalCitation · doi-reference
Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice
10.1093/nsr/nwz131 · ExternalCitation · 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 · ExternalCitation · doi-reference
Safety and efficacy of gene therapy with onasemnogene abeparvovec in the treatment of spinal muscular atrophy: a systematic review and meta-analysis
10.1111/jpc.16340 · ExternalCitation · doi-reference
Base editing rescue of spinal muscular atrophy in cells and in mice
10.1126/science.adg6518 · ExternalCitation · doi-reference
Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy
10.1182/bloodadvances.2021006419 · ExternalCitation · doi-reference
Treatment of spinal muscular atrophy with onasemnogene abeparvovec in Switzerland: a prospective observational case series study
10.1186/s12883-023-03133-6 · ExternalCitation · doi-reference
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy—A literature review
10.1186/s13023-017-0671-8 · ExternalCitation · 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 · ExternalCitation · doi-reference
Spinal Muscular Atrophy
10.1212/con.0000000000000918 · ExternalCitation · 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 · ExternalCitation · 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 · ExternalCitation · doi-reference
Intrathecal onasemnogene abeparvovec for sitting, nonambulatory patients with spinal muscular atrophy: phase i ascending-dose study (STRONG)
10.3233/jnd-221560 · ExternalCitation · doi-reference
Motor and neurocognitive profiles of children with symptomatic spinal muscular atrophy type 1 with two copies of SMN2 before and after treatment: a longitudinal observational study
10.3389/fneur.2024.1326528 · ExternalCitation · doi-reference
Spinal muscular atrophy: the past, present, and future of diagnosis and treatment
10.3390/ijms241511939 · ExternalCitation · doi-reference
Expanding the availability of onasemnogene abeparvovec to older patients: the evolving treatment landscape for spinal muscular atrophy
10.3390/pharmaceutics15061764 · ExternalCitation · doi-reference
