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The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy

Costa‐Roger, M., Blasco-Pérez, L., Cuscó, I., & Tizzano, E. F. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22169029 · Cited by 41 · see citing works

Circulating neurofilament light chain as a promising biomarker of AAV-induced dorsal root ganglia toxicity in nonclinical toxicology species

Fader, K. A., Pardo, I. D. R., Kovi, R. C., Somps, C. J., Wang, H. H., Vaidya, V. S., Ramaiah, S. K., & Sirivelu, M. P. (2022) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2022.03.017 · Cited by 40 · see citing works

Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor

Xie, Q., Chen, X., Ma, H., Zhu, Y., Ma, Y., Jalinous, L., Cox, G. F., Weaver, F., Yang, J., Kennedy, Z., et al. (2024) · EMBO Molecular Medicine · doi:10.1038/s44321-024-00037-x · Cited by 40 · see citing works

Creation of de novo cryptic splicing for ALS and FTD precision medicine

Wilkins, O. G., Chien, M. Z. Y. J., Wlaschin, J. J., Barattucci, S., Harley, P., Mattedi, F., Mehta, P. R., Pisliakova, M., Ryadnov, E. M., Keuss, M. J., et al. (2024) · Science · doi:10.1126/science.adk2539 · Cited by 44 · see citing works

Onasemnogene abeparvovec for the treatment of spinal muscular atrophy

McMillan, H. J., Proud, C. M., Farrar, M. A., Alexander, I. E., Francesco Muntoni, A., & Servais, L. (2022) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2022.2066471 · Cited by 36 · see citing works

The menace of severe adverse events and deaths associated with viral gene therapy and its potential solution

Kachanov, A., Kostyusheva, A., Brezgin, S., Karandashov, I., Ponomareva, N. I., Tikhonov, A., Lukashev, A. N., Pokrovsky, V. S., Zamyatnin, A. A., Parodi, A., et al. (2024) · Medicinal Research Reviews · doi:10.1002/med.22036 · Cited by 38 · see citing works

Recent advances in the treatment of Charcot‐Marie‐Tooth neuropathies

Bolino, A., & D’Antonio, M. (2023) · Journal of the Peripheral Nervous System · doi:10.1111/jns.12539 · Cited by 35 · see citing works

Viral mediated knockdown of GATA6 in SMA iPSC ‐derived astrocytes prevents motor neuron loss and microglial activation

Allison, R. L., Welby, E., Khayrullina, G., Burnett, B. G., & Ebert, A. D. (2022) · Glia · doi:10.1002/glia.24153 · Cited by 29 · see citing works

SMN controls neuromuscular junction integrity through U7 snRNP

Tisdale, S., Alstyne, M. V., Simon, C. M., Mentis, G. Z., & Pellizzoni, L. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.111393 · Cited by 31 · see citing works

Gene Therapy of Sphingolipid Metabolic Disorders

Shaimardanova, A. A., Solovyeva, V. V., Issa, S. S., & Rizvanov, A. A. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24043627 · Cited by 30 · see citing works

Bio–Nano Toolbox for Precision Alzheimer's Disease Gene Therapy

Liu, Y., Xia, X., Zheng, M., & Shi, B. (2024) · Advanced Materials · doi:10.1002/adma.202314354 · Cited by 30 · see citing works

Isogenic patient-derived organoids reveal early neurodevelopmental defects in spinal muscular atrophy initiation

Graß, T., Dokuzluoglu, Z., Buchner, F., Rosignol, I., Thomas, J. D., Caldarelli, A., Dalinskaya, A., Becker, J., Rost, F., Marass, M., et al. (2024) · Cell Reports Medicine · doi:10.1016/j.xcrm.2024.101659 · Cited by 31 · see citing works

Clinical and Translational Landscape of Viral Gene Therapies

Yudaeva, A., Kostyusheva, A., Kachanov, A., Brezgin, S., Ponomareva, N., Parodi, A., Pokrovsky, V. S., Lukashev, A. N., Chulanov, V., & Kostyushev, D. S. (2024) · Cells · doi:10.3390/cells13221916 · Cited by 26 · see citing works

Scientific and Regulatory Policy Committee Points to Consider: Nonclinical Research and Development of In Vivo Gene Therapy Products, Emphasizing Adeno-Associated Virus Vectors

Hutt, J. A., Assaf, B. T., Bolon, B. N., Cavagnaro, J. A., Galbreath, E. J., Grubor, B., Kattenhorn, L. M., Romeike, A., & Whiteley, L. O. (2021) · Toxicologic Pathology · doi:10.1177/01926233211041962 · Cited by 27 · see citing works

Central and peripheral delivered AAV9-SMN are both efficient but target different pathomechanisms in a mouse model of spinal muscular atrophy

Reilly, A., Deguise, M., Beauvais, A., Yaworski, R., Thebault, S., Tessier, D. R., Tabard‐Cossa, V., Hensel, N., Schneider, B. L., & Kothary, R. (2022) · Gene Therapy · doi:10.1038/s41434-022-00338-1 · Cited by 26 · see citing works

Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges

Haque, U. S., & Yokota, T. (2024) · Genes · doi:10.3390/genes15080999 · Cited by 25 · see citing works

Dorsal root ganglion toxicity after AAV intra-CSF delivery of a RNAi expression construct into non-human primates and mice

Hawley, Z. C. E., Pardo, I. D. R., Cao, S., Zavodszky, M. I., Casey, F., Ferber, K. L., Luo, Y., Hana, S., Chen, S. K., Doherty, J., et al. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.11.029 · Cited by 24 · see citing works

Therapeutic strategy for spinal muscular atrophy by combining gene supplementation and genome editing

Hatanaka, F., Suzuki, K., Shojima, K., Yu, J., Takahashi, Y., Sakamoto, A., Prieto, J., Shokhirev, M. N., Núñez‐Delicado, E., Esteban, C. R., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-50095-5 · Cited by 23 · see citing works

Intrathecal onasemnogene abeparvovec in treatment-naive patients with spinal muscular atrophy: a phase 3, randomized controlled trial

Proud, C. M., Vũ, D. C., Wilmshurst, J. M., Sanmaneechai, O., Gulati, S., Xiong, H., Moreno, H. C., Tay, S. K. H., Thong, M., Born, A. P., et al. (2025) · Nature Medicine · doi:10.1038/s41591-025-04103-w · Cited by 23 · see citing works

CRISPR-derived genome editing therapies: Progress from bench to bedside

Rees, H. A., Minella, A. C., Burnett, C. A., Komor, A. C., & Gaudelli, N. M. (2021) · Molecular Therapy · doi:10.1016/j.ymthe.2021.09.027 · Cited by 24 · see citing works

Real-World Safety Data of the Orphan Drug Onasemnogene Abeparvovec (Zolgensma®) for the SMA Rare Disease: A Pharmacovigilance Study Based on the EMA Adverse Event Reporting System

Ruggiero, R., Balzano, N., Nicoletti, M. M., di Mauro, G., Fraenza, F., Campitiello, M. R., Rossi, F., & Capuano, A. (2024) · Pharmaceuticals · doi:10.3390/ph17030394 · Cited by 24 · see citing works

Nuclear-Import Receptors Counter Deleterious Phase Transitions in Neurodegenerative Disease

Odeh, H. M., Fare, C. M., & Shorter, J. (2021) · Journal of Molecular Biology · doi:10.1016/j.jmb.2021.167220 · Cited by 21 · see citing works

Gene-Targeted Therapies in Pediatric Neurology: Challenges and Opportunities in Diagnosis and Delivery

Shellhaas, R. A., deVeber, G., Bonkowsky, J. L., Augustine, E. F., Bassuk, A. G., Calame, D. G., Carrasco, M., Dlamini, N., Felling, R. J., Glass, H. C., et al. (2021) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2021.09.011 · Cited by 22 · see citing works

Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA

Romano, G., Riccardi, F., Bussani, E., Vodret, S., Licastro, D., Ragone, I., Ronzitti, G., Morini, E., Slaugenhaupt, S., & Pagani, F. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.07.004 · Cited by 22 · see citing works

An innate immune response to adeno-associated virus genomes decreases cortical dendritic complexity and disrupts synaptic transmission

Suriano, C. M., Kumar, N., Verpeut, J. L., Ma, J., Jung, C., Dunn, C. E., Carvajal, B. V., Nguyen, A. V., & Boulanger, L. M. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.03.036 · Cited by 21 · see citing works

miRNA modules for precise, tunable control of gene expression

Du, R., Flynn, M. J., Mahe, K., Honsa, M., Gu, B., Li, D., McGeary, S. E., Gradinaru, V., Jungmann, R., & Elowitz, M. B. (2025) · Molecular Cell · doi:10.1016/j.molcel.2025.11.028 · Cited by 21 · see citing works

Wild-type FUS corrects ALS-like disease induced by cytoplasmic mutant FUS through autoregulation

Sanjuan-Ruiz, I., Govea-Perez, N., McAlonis‐Downes, M., Dieterle, S., Megat, S., Dirrig‐Grosch, S., Picchiarelli, G., Piol, D., Zhu, Q., Myers, B., et al. (2021) · Molecular Neurodegeneration · doi:10.1186/s13024-021-00477-w · Cited by 21 · see citing works

Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot–Marie–Tooth type 2A

Rizzo, F., Bono, S., Ruepp, M., Salani, S., Ottoboni, L., Abati, E., Melzi, V., Cordiglieri, C., Pagliarani, S., Gioia, R. D., et al. (2023) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-023-05018-w · Cited by 21 · see citing works

Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy

Reilly, A., Yaworski, R., Beauvais, A., Schneider, B. L., & Kothary, R. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad202 · Cited by 21 · see citing works

Chromatin Alterations in Neurological Disorders and Strategies of (Epi)Genome Rescue

Janowski, M., Milewska, M., Zare, P., & Pękowska, A. (2021) · Pharmaceuticals · doi:10.3390/ph14080765 · Cited by 21 · see citing works

Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy

Ramos-Platt, L. M., Elman, L. B., & Shieh, P. B. (2022) · International Journal of General Medicine · doi:10.2147/ijgm.s369021 · Cited by 20 · see citing works

Decision-making and challenges within the evolving treatment algorithm in spinal muscular atrophy: a clinical perspective

Balaji, L., Farrar, M. A., D’Silva, A., & Kariyawasam, D. S. T. (2023) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2023.2218549 · Cited by 23 · see citing works

Base editing as a genetic treatment for spinal muscular atrophyPreprint

Alves, C. R. R., Ha, L. L., Yaworski, R., Lazzarotto, C. R., Christie, K. A., Reilly, A., Beauvais, A., Doll, R. M., de la Cruz, D., Maguire, C. A., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.01.20.524978 · Cited by 20 · see citing works

Unleashing the potential of mRNA therapeutics for inherited neurological diseases

Monfrini, E., Baso, G., Ronchi, D., Meneri, M., Gagliardi, D., Quetti, L., Verde, F., Ticozzi, N., Ratti, A., Fonzo, A. D., et al. (2024) · Brain · doi:10.1093/brain/awae135 · Cited by 19 · see citing works

Self-regulating gene therapy ameliorates phenotypes and overcomes gene dosage sensitivity in a mouse model of Rett syndrome

Ross, P. D., Gadalla, K. K. E., Thomson, S. R., Selfridge, J., Bahey, N. G., Benito, J., Burstein, S. R., McMinn, R., Bolon, B. N., Hector, R. D., et al. (2025) · Science Translational Medicine · doi:10.1126/scitranslmed.adq3614 · Cited by 24 · see citing works

In utero therapy for spinal muscular atrophy: closer to clinical translation

Tizzano, E. F., Lindner, G., Chilcott, E. M., Finkel, R. S., & Yáñez‐Muñoz, R. J. (2025) · Brain · doi:10.1093/brain/awaf123 · Cited by 19 · see citing works

AAV-delivered muscone-induced transgene system for treating chronic diseases in mice via inhalation

Wu, X., Yu, Y., Wang, M., Dai, D., Yin, J., Liu, W., Kong, D., Tang, S., Meng, M., Gao, T., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-45383-z · Cited by 19 · see citing works

Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy

Simon, C. M., Delestrée, N., Montes, J., Sowoidnich, L., Gerstner, F., Carranza, E., Buettner, J. M., Pagiazitis, J. G., Prat-Ortega, G., Ensel, S., et al. (2025) · Brain · doi:10.1093/brain/awaf074 · Cited by 19 · see citing works

An Overview of the Therapeutic Strategies for the Treatment of Spinal Muscular Atrophy

Li, Y., Zeng, H., Wei, Y., Ma, X., & He, Z. (2023) · Human Gene Therapy · doi:10.1089/hum.2022.189 · Cited by 19 · see citing works

MECP2-related disorders while gene-based therapies are on the horizon

Allison, K. S., Maletić‐Savatić, M., & Pehli̇van, D. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1332469 · Cited by 18 · see citing works

Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy

Bagga, P., Singh, S., Ram, G., Kapil, S., & Singh, A. (2024) · Frontiers in Neurology · doi:10.3389/fneur.2024.1368658 · Cited by 20 · see citing works

Retromer dysfunction in amyotrophic lateral sclerosis

Pérez-Torres, E. J., Utkina-Sosunova, I. V., Mishra, V. R., Barbuti, P. A., Planell-Saguer, M. D., Dermentzaki, G., Geiger, H. M., Basile, A. O., Robine, N., Fagegaltier, D., et al. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2118755119 · Cited by 17 · see citing works

Adeno-associated virus (AAV) reduces cortical dendritic complexity in a TLR9-dependent mannerPreprint

Suriano, C. M., Verpeut, J. L., Kumar, N., Ma, J., Jung, C., & Boulanger, L. M. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.09.28.462148 · Cited by 17 · see citing works

Molecular Pathogenesis and New Therapeutic Dimensions for Spinal Muscular Atrophy

López‐Cortés, A., Echeverría‐Garcés, G., & Ramos-Medina, M. J. (2022) · Biology · doi:10.3390/biology11060894 · Cited by 16 · see citing works

Zinc Finger Repressors mediate widespread PRNP lowering in the nonhuman primate brain and profoundly extend survival in prion disease micePreprint

Chou, S.-W., Mortberg, M. A., Marlen, K., Ojala, D. S., Parman, T., Howard, M., DeSouza-Lenz, K., Lian, Y., Mehrabian, M., Tiffany, M. R., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.03.05.636713 · Cited by 14 · see citing works

Mechanisms linking cytoplasmic decay of translation-defective mRNA to transcriptional adaptation

El-Brolosy, M. A., Oak, A., An, H.-A., Damergi, Y., Fischer, A., Saunders, R., Luo, J.-C., Balabaki, A., Guez, J., Whitfield, T. W., et al. (2026) · Science · doi:10.1126/science.aea1272 · Cited by 13 · see citing works

Systematic review and meta-analysis determining the benefits of in vivo genetic therapy in spinal muscular atrophy rodent models

Chilcott, E. M., Muiruri, E. W., Hirst, T. C., & Yáñez‐Muñoz, R. J. (2021) · Gene Therapy · doi:10.1038/s41434-021-00292-4 · Cited by 13 · see citing works

Agonist of growth hormone-releasing hormone improves the disease features of spinal muscular atrophy mice

Boido, M., Gesmundo, I., Caretto, A., Pedrolli, F., Schellino, R., Leone, S., Cai, R., Sha, W., Ghigo, E., Schally, A. V., et al. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2216814120 · Cited by 13 · see citing works

Scientific and Regulatory Policy Committee Technical Review: Biology and Pathology of Ganglia in Animal Species Used for Nonclinical Safety Testing

Bennet, B. M., Pardo, I. D. R., Assaf, B. T., Buza, E. L., Cramer, S. D., Crawford, L. K., Engelhardt, J. A., Galbreath, E. J., Grubor, B., Morrison, J. P., et al. (2023) · Toxicologic Pathology · doi:10.1177/01926233231213851 · Cited by 13 · see citing works

Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy

Nasir, G., Chopra, R., Elwood, F., & Ahmed, S. S. (2021) · Frontiers in Medicine · doi:10.3389/fmed.2021.760236 · Cited by 13 · see citing works

Neuromuscular denervation and deafferentation but not motor neuron death are disease features in the Smn2B/- mouse model of SMA

Carlini, M. J., Triplett, M. K., & Pellizzoni, L. (2022) · PLoS ONE · doi:10.1371/journal.pone.0267990 · Cited by 11 · see citing works

Neuropathological Findings in Nonclinical Species Following Administration of Adeno-Associated Virus (AAV)-Based Gene Therapy Vectors

Bolon, B. N., Buza, E. L., Galbreath, E. J., Wicks, J. R., Cargnin, F., & Hordeaux, J. (2024) · Toxicologic Pathology · doi:10.1177/01926233241300314 · Cited by 12 · see citing works

AAV-based delivery of RNAi targeting ataxin-2 improves survival and pathology in TDP-43 mice

Amado, D. A., Robbins, A. B., Whiteman, K. R., Smith, A. R., Chillon, G., Chen, Y., Fuller, J. A. K., Patty, N. A., Izda, A., Cheng, C., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-60497-8 · Cited by 12 · see citing works

Stress granules in the spinal muscular atrophy and amyotrophic lateral sclerosis: The correlation and promising therapy

Hu, L., Mao, S., Li, L., Bai, G., Liu, B., & Mao, J. (2022) · Neurobiology of Disease · doi:10.1016/j.nbd.2022.105749 · Cited by 12 · see citing works

Mutation-agnostic RNA interference with engineered replacement rescuesTmc1-related hearing loss

Iwasa, Y.-I., Klimara, M. J., Yoshimura, H., Walls, W. D., Omichi, R., West, C., Shibata, S. B., Ranum, P. T., & Smith, R. J. (2022) · Life Science Alliance · doi:10.26508/lsa.202201592 · Cited by 12 · see citing works

Current trends in gene therapy to treat inherited disorders of the brain

Matuszek, Ż., Brown, B. L., Yrigollen, C. M., Keiser, M. S., & Davidson, B. L. (2025) · Molecular Therapy · doi:10.1016/j.ymthe.2025.03.057 · Cited by 13 · see citing works

A super minigene with a short promoter and truncated introns recapitulates essential features of transcription and splicing regulation of the SMN1 and SMN2 genes

Ottesen, E. W., Seo, J., Luo, D., Singh, N. N., & Singh, R. N. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkad1259 · Cited by 11 · see citing works

Developing AAV-delivered nonsense suppressor tRNAs for neurological disorders

Wang, J., Gao, G., & Wang, D. (2024) · Neurotherapeutics · doi:10.1016/j.neurot.2024.e00391 · Cited by 10 · see citing works

Gene therapy for neuromuscular disorders: prospects and ethics

Ryan, M. M. (2021) · Archives of Disease in Childhood · doi:10.1136/archdischild-2020-320908 · Cited by 12 · see citing works

Premature delivery in the domestic sow in response to in utero delivery of AAV9 to fetal piglets

Rich, K. A., Wier, C. G., Russo, J. R., Kong, L., Heilman, P. L., Reynolds, A., Knapp, A., Pino, M. G., Keckley, E., Mattox, L., et al. (2021) · Gene Therapy · doi:10.1038/s41434-021-00305-2 · Cited by 11 · see citing works

Depletion of SMN protein in mesenchymal progenitors impairs the development of bone and neuromuscular junction in spinal muscular atrophy

Hann, S., Kim, S.-Y., Kim, Y. L., Jo, Y., Kang, J., Park, H., Choi, S., & Kong, Y. (2024) · eLife · doi:10.7554/elife.92731.3 · Cited by 10 · see citing works

Patient-specific responses to SMN2 splice-modifying treatments in spinal muscular atrophy fibroblasts

Signoria, I., Zwartkruis, M. M., Geerlofs, L., Perenthaler, E., Faller, K. M. E., James, R., McHale-Owen, H., Green, J. W., Kortooms, J. V., Snellen, S. H., et al. (2024) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2024.101379 · Cited by 10 · see citing works

Targeting STMN2 for neuroprotection and neuromuscular recovery in Spinal Muscular Atrophy: evidence from in vitro and in vivo SMA models

Pagliari, E., Taiana, M., Manzini, P., Sali, L., Quetti, L., Bertolasi, L., Oldoni, S., Melzi, V., Comi, G., Corti, S., et al. (2024) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-024-05550-3 · Cited by 9 · see citing works

Long-Term SMN- and Ncald-ASO Combinatorial Therapy in SMA Mice and NCALD-ASO Treatment in hiPSC-Derived Motor Neurons Show Protective Effects

Muiños-Bühl, A., Ling, K., Rombo, R., Zilio, E., Rigo, F., Bennett, C. F., & Wirth, B. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24044198 · Cited by 10 · see citing works

Clinical perspectives: Treating spinal muscular atrophy

McPheron, M. A., & Felker, M. V. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.06.020 · Cited by 11 · see citing works

Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’

Lek, A., Atas, E., Lin, B. L., Hesterlee, S. E., Abbott, J. K., Byrne, B. J., & Bönnemann, C. G. (2024) · Journal of Neuromuscular Diseases · doi:10.3233/jnd-240002 · Cited by 9 · see citing works

RNA Editing-Mediated Correction of TP53 Nonsense Mutations via Lipid Nanoparticle-Delivered Circular ADAR-Recruiting RNAs

Wang, J., Zhang, W., Li, S., Shi, W., Li, B., Zhang, J., Liang, Y., Teng, X., & Zhang, K. (2025) · Journal of the American Chemical Society · doi:10.1021/jacs.4c17920 · Cited by 10 · see citing works

A novel gene delivery platform based on a commensal human anellovirus demonstrates transduction in multiple tissue types

Prince, C., Bounoutas, G. S., Zhou, B., Raja, W. K., Gold, I., Pozsgai, R., Thakker, P., Boisvert, N. M., Reardon, C., Thurmond, S., et al. (2025) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2025.101597 · Cited by 9 · see citing works

SMN Is Physiologically Downregulated at Wild-Type Motor Nerve Terminals but Aggregates Together with Neurofilaments in SMA Mouse Models

Franco-Espín, J., Gatius, A., Armengol, J. A., Arumugam, S., Moradi, M., Sendtner, M., Calderó, J., & Tabares, L. (2022) · Biomolecules · doi:10.3390/biom12101524 · Cited by 9 · see citing works

AAV9-Mediated Expression of SMN Restricted to Neurons Does Not Rescue the Spinal Muscular Atrophy Phenotype in Mice

Besse, A., Astord, S., Marais, T., Roda, M., Giroux, B., Lejeune, F., Relaix, F., Smeriglio, P., Barkats, M., & Biferi, M. G. (2020) · Molecular Therapy · doi:10.1016/j.ymthe.2020.05.011 · Cited by 55 · see citing works

AAV9-mediated SMN expression restricted to the CNS does not rescue SMA mice

Besse, A., Rodà, M., Astord, S., Marais, T., Biferi, M. G., & Barkats, M. (2017) · Neuromuscular Disorders · doi:10.1016/j.nmd.2017.06.162

Long‐Term Safety and Efficacy of AAV9 Vectors Expressing Human SMN1 Gene: A Preclinical Study

Mansouri, V., Bemanalizadeh, M., Ahmadbeigi, N., Shakeri, R., & Saffar, H. (2025) · Basic & Clinical Pharmacology & Toxicology · doi:10.1111/bcpt.70064 · Cited by 2 · see citing works

Exploring modifiers in Spinal Muscular Atrophy: The power of AAV9

Ross, J. E. (2014) · MOspace Institutional Repository (University of Missouri)

Lack of sensorimotor toxicity when using the clinical SMN expression cassette in scAAV9

Balch, M. H. H., Blatnik, A. J., Kray, K. M., McGovern, V. L., Baxley, S. R., Kent, K., Rodrigo, R., Burghes, A. H. M., & Arnold, W. D. (2026) · Nature Neuroscience · doi:10.1038/s41593-026-02411-z