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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

Retson, L., Tiwari, N. R., Vaughn, J. A., Bernes, S. M., Adelson, P. D., Mansfield, K. G., Libertini, S., Kuzmiski, J. B., Alecu, I., Gabriel, R., et al. (2023) · Molecular Therapy · doi:10.1016/j.ymthe.2023.08.013 · Cited by 29 · see citing works

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

Bischof, M., Lorenzi, M. F., Lee, J., Druyts, E., Balijepalli, C., & Dabbous, O. H. (2021) · Current Medical Research and Opinion · doi:10.1080/03007995.2021.1947216 · Cited by 26 · see citing works

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

Paracha, N., Hudson, P., Mitchell, S., & Sutherland, C. S. (2021) · PharmacoEconomics · doi:10.1007/s40273-021-01105-7 · Cited by 26 · see citing works

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

Keßler, T., Sam, G., Wick, W., & Weiler, M. (2023) · European Journal of Neurology · doi:10.1111/ene.16099 · Cited by 26 · see citing works

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

Cupo, R. R., Rizo, A. N., Braun, G. A., Tse, E., Chuang, E., Gupta, K., Southworth, D. R., & Shorter, J. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.111408 · Cited by 25 · see citing works

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

Hensel, N., Cieri, F., Santonicola, P., Tapken, I., Schüning, T., Taiana, M. M., Pagliari, E., Joseph, A., Fischer, S., Heidrich, N., et al. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2007785118 · Cited by 23 · see citing works

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

Barrois, R., Barnérias, C., Deladrière, E., Leloup-Germa, V., Tervil, B., Audic, F., Boulay, C., Cancés, C., Cintas, P., Davion, J., et al. (2023) · Neuromuscular Disorders · doi:10.1016/j.nmd.2023.02.004 · Cited by 23 · see citing works

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

Schwab, M. E., Shao, S. J., Zhang, L., Lianoglou, B. R., Belter, L. T., Jarecki, J., Schroth, M. K., Sumner, C. J., & MacKenzie, T. C. (2022) · Prenatal Diagnosis · doi:10.1002/pd.6228 · Cited by 22 · see citing works

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

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Calpain system is altered in survival motor neuron-reduced cells from in vitro and in vivo spinal muscular atrophy models

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Of rAAV and Men: From Genetic Neuromuscular Disorder Efficacy and Toxicity Preclinical Studies to Clinical Trials and Back

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Intravenous delivery of adeno-associated viral gene therapy in feline GM1 gangliosidosis

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Developing Novel Therapies for Degenerative Cervical Myelopathy [AO Spine RECODE-DCM Research Priority Number 7]: Opportunities From Restorative Neurobiology

Gharooni, A.-A., Kwon, B. K., Fehlings, M. G., Boerger, T. F., Rodrigues‐Pinto, R., Koljonen, P. A., Kurpad, S. N., Harrop, J. S., Aarabi, B., Rahimi‐Movaghar, V., et al. (2022) · Global Spine Journal · doi:10.1177/21925682211052920 · Cited by 21 · see citing works

Early Development of Spinal Deformities in Children Severely Affected with Spinal Muscular Atrophy after Gene Therapy with Onasemnogene Abeparvovec—Preliminary Results

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Motor unit number index: A potential electrophysiological biomarker for pediatric spinal muscular atrophy

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Longer-term follow-up of nusinersen efficacy and safety in adult patients with spinal muscular atrophy types 2 and 3

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Optimizations of In Vitro Mucus and Cell Culture Models to Better Predict In Vivo Gene Transfer in Pathological Lung Respiratory Airways: Cystic Fibrosis as an Example

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Real-Life Outcome After Gene Replacement Therapy for Spinal Muscular Atrophy: A Multicenter Experience

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Gene transfer to skeletal muscle using hydrodynamic limb vein injection: current applications, hurdles and possible optimizations

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Clinical Trial Design for Disease-Modifying Therapies for Genetic Epilepsies

Brock, D., Demarest, S., & Benke, T. (2021) · Neurotherapeutics · doi:10.1007/s13311-021-01123-5 · Cited by 13 · see citing works

Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA)

Paracha, N., Hudson, P., Mitchell, S., & Sutherland, C. S. (2021) · PharmacoEconomics · doi:10.1007/s40273-021-01095-6 · Cited by 17 · see citing works

New Therapeutics Options for Pediatric Neuromuscular Disorders

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Biosafety Practices for In Vivo Viral-Mediated Gene Therapy in the Health Care Setting

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New Horizons of Model Informed Drug Development in Rare Diseases Drug Development

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FSHD Therapeutic Strategies: What Will It Take to Get to Clinic?

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Current Genetic Survey and Potential Gene-Targeting Therapeutics for Neuromuscular Diseases

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Nonrespiratory complications of nusinersen‐treated spinal muscular atrophy type 1 patients

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Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center

Johannsen, J., Weiss, D., Schlenker, F., Groth, M., & Denecke, J. (2020) · Neuropediatrics · doi:10.1055/s-0040-1718916 · Cited by 14 · see citing works

AAV8 locoregional delivery induces long-term expression of an immunogenic transgene in macaques despite persisting local inflammation

Gernoux, G., Guilbaud, M., Devaux, M., Journou, M., Pichard, V., Jaulin, N., Léger, A., Duff, J. L., Deschamps, J., Guiner, C. L., et al. (2021) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2021.02.003 · Cited by 13 · see citing works

SUMOylation Targets Adeno-associated Virus Capsids but Mainly Restricts Transduction by Cellular Mechanisms

Chen, Q., Njenga, R., Leuchs, B., Chiocca, S., Kleinschmidt, J. A., & Müller, M. (2020) · Journal of Virology · doi:10.1128/jvi.00871-20 · Cited by 13 · see citing works

Prevalence Study of Cellular Capsid-Specific Immune Responses to AAV2, 4, 5, 8, 9, and rh10 in Healthy Donors

Xicluna, R., Avenel, A., Vandamme, C., Devaux, M., Jaulin, N., Couzinié, C., Duff, J. L., Charrier, A., Guilbaud, M., Adjali, O., et al. (2024) · Human Gene Therapy · doi:10.1089/hum.2023.225 · Cited by 12 · see citing works

Long-term impact of nusinersen on motor and electrophysiological outcomes in adolescent and adult spinal muscular atrophy: insights from a multicenter retrospective study

Wang, N., Hu, Y., Jiao, K., Cheng, N., Sun, J., Tang, J., Song, J., Sun, C., Wang, T., Wang, K., et al. (2024) · Journal of Neurology · doi:10.1007/s00415-024-12567-y · Cited by 12 · see citing works

Risdiplam in Adult Patients With 5q Spinal Muscular Atrophy: A Single‐Center Longitudinal Study

Gavriilaki, M., Moschou, M., Pagiantza, M., Arnaoutoglou, M., & Kimiskidis, V. Κ. (2024) · Muscle & Nerve · doi:10.1002/mus.28327 · Cited by 12 · see citing works

Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy

Buchignani, B., Coratti, G., Cutri, C., Scattoni, M. L., Pane, M., Palermo, C., Leone, D., Sanctis, R. D., Stanca, G., Antonaci, L., et al. (2025) · Scientific Reports · doi:10.1038/s41598-025-12484-8 · Cited by 12 · see citing works

Hypoventilation syndrome in neuromuscular disorders

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Short-Term Safety and Efficacy of Onasemnogene Abeparvovec in 10 Patients with Spinal Muscular Atrophy: Cohort Study

Nevmerzhitskaya, K. S., Sapego, E. Y., & Morozova, D. A. (2021) · Вопросы современной педиатрии · doi:10.15690/vsp.v20i6s.2367 · Cited by 12 · see citing works

Newborn screening and gene therapy in SMA: Challenges related to vaccinations

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Gene Therapy for Neuropsychiatric Disorders: Potential Targets and Tools

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Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec

Tizzano, E. F., Quijano-Roy, S., Servais, L., Parsons, J. A., Aharoni, S., Lakhotia, A., Finkel, R. S., Mercuri, E. M., Kirschner, J., Vivo, D. C. D., et al. (2024) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2024.08.006 · Cited by 11 · see citing works

Vector Affinity and Receptor Distribution Define Tissue-Specific Targeting in an Engineered AAV Capsid

Martino, R. A., Wang, Q., Xu, H. Y., Hu, G. B., Bell, P. L., Arroyo, E. J., Sims, J. J., & Wilson, J. M. (2023) · Journal of Virology · doi:10.1128/jvi.00174-23 · Cited by 12 · see citing works

Therapies for RYR1-Related Myopathies: Where We Stand and the Perspectives

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P.061 The value of AVXS-101 gene-replacement therapy for Spinal Muscular Atrophy Type 1 (SMA1)

Dabbous, O. H., Sproule, D. M., Feltner, D., Droege, M., Khan, F., & Arjunji, R. V. (2019) · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · doi:10.1017/cjn.2019.161

The Value of AVXS-101 Gene Replacement Therapy for Spinal Muscular Atrophy Type 1: Improved Survival, Pulmonary and Nutritional Support, and Motor Function with Decreased Hospitalization (P1.6-060)

Dabbous, O. H., Sproule, D. M., Feltner, D. E., Droege, M., Khan, F., & Arjunji, R. V. (2019) · Neurology · doi:10.1212/wnl.92.15_supplement.p1.6-060 · Cited by 1 · see citing works

250 AVXS-101 phase 3 study in spinal muscular atrophy type 1

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P.358The value of AVXS-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): improved survival, pulmonary and nutritional support, and motor function with decreased hospitalization

Dabbous, O. H., Sproule, D. M., Feltner, D. E., Droege, M., Khan, F., & Arjunji, R. V. (2019) · Neuromuscular Disorders · doi:10.1016/j.nmd.2019.06.520 · Cited by 1 · see citing works

IP 853. AVXS-101 Phase-1-Gene Therapy Clinical Trial in SMA Type 1: Event-Free Survival and Achievement of Developmental Milestones

Mendell, J. R., Al-Zaidy, S. A., SHELL, R. D., Arnold, W. D., Rodino‐Klapac, L. R., Prior, T. W., Lowes, L. P., Alfano, L. N., Berry, K., Church, K. R., et al. (2018) · Neuropediatrics · doi:10.1055/s-0038-1676033