RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

Identification and characterization of a spinal muscular atrophy-determining gene

Lefebvre, S., Bürglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Bénichou, B., Cruaud, C., Millasseau, P., Zeviani, M., et al. (1995) · Cell · doi:10.1016/0092-8674(95)90460-3 · Cited by 3,995

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

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Clades of Adeno-Associated Viruses Are Widely Disseminated in Human Tissues

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The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy

Monani, U. R. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.3.333 · Cited by 745

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

Burghes, A. H. M., & Beattie, C. E. (2009) · Nature Reviews Neuroscience · doi:10.1038/nrn2670 · Cited by 723

SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

Le, T. T., Pham, L. T., Butchbach, M. E. R., Zhang, H. L., Monani, U. R., Coovert, D. D., Gavrilina, T. O., Xing, L., Bassell, G. J., & Burghes, A. H. M. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi078 · Cited by 600

Adeno-associated virus terminal repeat (TR) mutant generates self-complementary vectors to overcome the rate-limiting step to transduction in vivo

McCarty, D. M., Fu, H., Monahan, P. E., Toulson, C. E., Naik, P., & Samulski, R. J. (2003) · Gene Therapy · doi:10.1038/sj.gt.3302134 · Cited by 547

Directed evolution of adeno-associated virus yields enhanced gene delivery vectors

Maheshri, N., Koerber, J. T., Kaspar, B. K., & Schaffer, D. V. (2006) · Nature Biotechnology · doi:10.1038/nbt1182 · Cited by 538 · cited 1×

Circular Intermediates of Recombinant Adeno-Associated Virus Have Defined Structural Characteristics Responsible for Long-Term Episomal Persistence in Muscle Tissue

Duan, D., Sharma, P., Yang, J., Yue, Y., Dudus, L., Zhang, Y., Fisher, K. J., & Engelhardt, J. F. (1998) · Journal of Virology · doi:10.1128/jvi.72.11.8568-8577.1998 · Cited by 522

Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons

Duque, S., Joussemet, B., Riviere, C., Marais, T., Dubreil, L., Douar, A.-M., Fyfe, J., Moullier, P., Colle, M.-A., & Barkats, M. (2009) · Molecular Therapy · doi:10.1038/mt.2009.71 · Cited by 511

DRAVET ENGAGE. Parent caregivers of children with Dravet syndrome: Perspectives, needs, and opportunities for clinical research

Juandó‐Prats, C., James, E. S., Bilder, D. A., McNair, L. A., Kenneally, N., Helfer, J., Huang, N., Vila, M. C., Sullivan, J. E., Wirrell, E. C., et al. (2021) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2021.108198 · Cited by 40

Treating neonatal spinal muscular atrophy: A 21st century success story?

Tizzano, E. F. (2019) · Early Human Development · doi:10.1016/j.earlhumdev.2019.104851 · Cited by 43

Assays for the Identification and Prioritization of Drug Candidates for Spinal Muscular Atrophy

Cherry, J. J., Kobayashi, D. T., Lynes, M. M., Naryshkin, N. N., Tiziano, F. D., Zaworski, P. G., Rubin, L. L., & Jarecki, J. (2014) · Assay and Drug Development Technologies · doi:10.1089/adt.2014.587 · Cited by 39

Efficient SMN Rescue following Subcutaneous Tricyclo-DNA Antisense Oligonucleotide Treatment

Robín, V., Griffith, G., Carter, J.-P., Leumann, C. J., Garcı́a, L., & Goyenvalle, A. (2017) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2017.02.009 · Cited by 39

AAV9 Gene Therapy Increases Lifespan and Treats Pathological and Behavioral Abnormalities in a Mouse Model of CLN8-Batten Disease

Johnson, T. B., White, K. A., Brudvig, J. J., Cain, J. T., Langin, L. M., Pratt, M. A., Booth, C. D., Timm, D. J., Davis, S. S., Meyerink, B. L., et al. (2020) · Molecular Therapy · doi:10.1016/j.ymthe.2020.09.033 · Cited by 39

Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy

Mutsaers, C. A., Lamont, D. J., Hunter, G., Wishart, T. M., & Gillingwater, T. H. (2013) · Genome Medicine · doi:10.1186/gm498 · Cited by 38

Targeted axonal import (TAxI) peptide delivers functional proteins into spinal cord motor neurons after peripheral administration

Sellers, D. L., Bergen, J. M., Johnson, R. N., Back, H., Ravits, J., Horner, P. J., & Pun, S. H. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1515526113 · Cited by 38

SMN Depleted Mice Offer a Robust and Rapid Onset Model of Nonalcoholic Fatty Liver Disease

Deguise, M., Pileggi, C. A., Repentigny, Y. D., Beauvais, A., Tierney, A., Chehadé, L., Michaud, J., Hurtado, M. L., Lamont, D. J., Atrih, A., et al. (2021) · Cellular and Molecular Gastroenterology and Hepatology · doi:10.1016/j.jcmgh.2021.01.019 · Cited by 38

Routes of administration for adeno-associated viruses carrying gene therapies for brain diseases

Zhou, K., Han, J., Wang, Y., Zhang, Y., & Zhu, C. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.988914 · Cited by 40

Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy

Workman, E., Kolb, S. J., & Battle, D. J. (2012) · Brain Research · doi:10.1016/j.brainres.2012.02.051 · Cited by 37

SMN deficiency does not induce oxidative stress in SMA iPSC-derived astrocytes or motor neurons

Patitucci, T. N., & Ebert, A. D. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv489 · Cited by 37

Novel challenges in spinal muscular atrophy – How to screen and whom to treat?

Saffari, A., Kölker, S., Hoffmann, G. F., Weiler, M., & Ziegler, A. (2018) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.689 · Cited by 39

Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights

Saladini, M., Nizzardo, M., Govoni, A., Taiana, M. M., Bresolin, N., Comi, G. P., & Corti, S. P. (2019) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.14874 · Cited by 37

Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101

Ziegler, A., Wilichowski, E., Schara, U., Hahn, A., Müller‐Felber, W., Johannsen, J., von der Hagen, M., von Moers, A., Stoltenburg, C., Saffari, A., et al. (2020) · Der Nervenarzt · doi:10.1007/s00115-020-00919-8 · Cited by 37

Gene-Targeting Therapeutics for Neurological Disease: Lessons Learned from Spinal Muscular Atrophy

Ravi, B., Chan-Cortés, M. H., & Sumner, C. J. (2021) · Annual Review of Medicine · doi:10.1146/annurev-med-070119-115459 · Cited by 38

CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: implications for spinal muscular atrophy

Foran, E., Kwon, D. Y., Nofziger, J. H., Arnold, E. S., Hall, M. D., Fischbeck, K. H., & Burnett, B. G. (2016) · Neurobiology of Disease · doi:10.1016/j.nbd.2016.01.008 · Cited by 37

Plastin 3 Promotes Motor Neuron Axonal Growth and Extends Survival in a Mouse Model of Spinal Muscular Atrophy

Alrafiah, A., Karyka, E., Coldicott, I., Iremonger, K., Lewis, K. E. A., Ning, K., & Azzouz, M. (2018) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2018.01.007 · Cited by 37

New Therapeutic Approaches to Spinal Muscular Atrophy

Lewelt, A. J., Newcomb, T. M., & Swoboda, K. J. (2011) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-011-0240-9 · Cited by 36

SMN-Inducing Compounds For The Treatment Of Spinal Muscular Atrophy

Lorson, M. A., & Lorson, C. L. (2012) · Future Medicinal Chemistry · doi:10.4155/fmc.12.131 · Cited by 36

Gene Delivery Strategies to Promote Spinal Cord Repair

Walthers, C. M., & Seidlits, S. K. (2015) · Biomarker Insights · doi:10.4137/bmi.s20063 · Cited by 36

The respiratory impact of novel therapies for spinal muscular atrophy

Paul, G., Gushue, C. A., Kotha, K. S., & SHELL, R. D. (2020) · Pediatric Pulmonology · doi:10.1002/ppul.25135 · Cited by 38

Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen

Arnold, W. D., Severyn, S. A., Zhao, S., Kline, D., Linsenmayer, M., Kelly, K., Tellez, M., Bartlett, A., Heintzman, S., Reynolds, J., et al. (2021) · BMJ Neurology Open · doi:10.1136/bmjno-2021-000164 · Cited by 39

Pre-symptomatic spinal muscular atrophy: a proposed nosology

Finkel, R. S., & Benatar, M. G. (2022) · Brain · doi:10.1093/brain/awac125 · Cited by 36

Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy

Cobb, M. S., Rose, F. F., Rindt, H., Glascock, J., Shababi, M., Bolding, M., Osman, E. Y., Yen, P., Garcia, M. L., Martin, B. R., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt037 · Cited by 36

Gene therapy for mitochondrial disorders

Keshavan, N., Minczuk, M. A., Viscomi, C. F., & Rahman, S. (2024) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12699 · Cited by 39

ETS-domain transcription factor Elk-1 mediates neuronal survival: SMN as a potential target

Demir, O., Ayşit, N., Onder, Z., Türkel, N., Öztürk, G., Sharrocks, A. D., & Kurnaz, I. A. (2011) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2011.02.012 · Cited by 35

Current therapies for the soluble lysosomal forms of neuronal ceroid lipofuscinosis

Wong, A. M. S., Rahim, A. A., Waddington, S. N., & Cooper, J. D. (2010) · Biochemical Society Transactions · doi:10.1042/bst0381484 · Cited by 35

Intrathecal administration of IGF-I by AAVrh10 improves sensory and motor deficits in a mouse model of diabetic neuropathy

Homs, J., Pagès, G., Ariza, L., Casas, C., Chillón, M., Navarro, X., & Bosch, A. (2014) · Molecular Therapy — Methods & Clinical Development · doi:10.1038/mtm.2013.7 · Cited by 36

Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion

Martin, J. E., Nguyen, T. T., Grunseich, C., Nofziger, J. H., Lee, P. R., Fields, D. W., Fischbeck, K. H., & Foran, E. (2017) · Journal of Neuroscience · doi:10.1523/jneurosci.3472-16.2017 · Cited by 35

Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic development

Bowerman, M., Murray, L. M., Scamps, F., Schneider, B. L., Kothary, R., & Raoul, C. (2017) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2017.12.001 · Cited by 37

miR-206 Reduces the Severity of Motor Neuron Degeneration in the Facial Nuclei of the Brainstem in a Mouse Model of SMA

Valsecchi, V., Anzilotti, S., Serani, A., Laudati, G., Brancaccio, P., Guida, N., Cuomo, O., Pignataro, G., & Annunziato, L. (2020) · Molecular Therapy · doi:10.1016/j.ymthe.2020.01.013 · Cited by 37

Pronounced Therapeutic Benefit of a Single Bidirectional AAV Vector Administered Systemically in Sandhoff Mice

Lahey, H. G., Webber, C. J., Golebiowski, D., Izzo, C., Horn, E., Taghian, T., Rodríguez, P. M., Batista, A. R., Ellis, L. E., Hwang, M., et al. (2020) · Molecular Therapy · doi:10.1016/j.ymthe.2020.06.021 · Cited by 37

Differential induction of muscle atrophy pathways in two mouse models of spinal muscular atrophy

Deguise, M., Boyer, J. G., McFall, E. R., Yazdani, A., Repentigny, Y. D., & Kothary, R. (2016) · Scientific Reports · doi:10.1038/srep28846 · Cited by 33

Developmental regulation of SMN expression: pathophysiological implications and perspectives for therapy development in spinal muscular atrophy

Jablonka, S., & Sendtner, M. (2017) · Gene Therapy · doi:10.1038/gt.2017.46 · Cited by 35

In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy

Ojala, K. S., Reedich, E. J., DiDonato, C. J., & Meriney, S. D. (2021) · Brain Sciences · doi:10.3390/brainsci11020194 · Cited by 37

Induced Pluripotent Stem Cells (iPSCs) and Gene Therapy: A New Era for the Treatment of Neurological Diseases

Sguazzi, G. P., Muto, V., Tartaglia, M., Bertini, E., & Compagnucci, C. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222413674 · Cited by 37

Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?

Blaschek, A., Kölbel, H., Schwartz, O., Köhler, C., Gläser, D., Eggermann, K., Hannibal, I., Schara, U., Müller‐Felber, W., & Vill, K. (2022) · Journal of Neuromuscular Diseases · doi:10.3233/jnd-221510 · Cited by 34

Systemic scAAV9 variant mediates brain transduction in newborn rhesus macaques

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Therapy development in spinal muscular atrophy

Sendtner, M. (2010) · Nature Neuroscience · doi:10.1038/nn.2565 · Cited by 33

Pluripotent stem cell-based models of spinal muscular atrophy

Frattini, E., Ruggieri, M., Salani, S., Faravelli, I., Zanetta, C., Nizzardo, M., Simone, C., Magri, F., & Corti, S. P. (2014) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2014.12.005 · Cited by 34

Spinal muscular atrophy: from tissue specificity to therapeutic strategies

Iascone, D. M., Henderson, C. E., & Lee, J. (2015) · F1000Prime Reports · doi:10.12703/p7-04 · Cited by 33

Additive amelioration of ALS by co‐targeting independent pathogenic mechanisms

Frakes, A. E., Braun, L., Ferraiuolo, L., Guttridge, D. C., & Kaspar, B. K. (2017) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.375 · Cited by 36

Prenatal aspects in spinal muscular atrophy: From early detection to early presymptomatic intervention

Tizzano, E. F., & Zafeiriou, D. (2018) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2018.08.009 · Cited by 33

Multispectral optoacoustic tomography for non-invasive disease phenotyping in pediatric spinal muscular atrophy patients

Regensburger, A. P., Wagner, A. L., Danko, V., Jüngert, J., Federle, A., Klett, D., Schüssler, S. C., Büehler, A., Neurath, M. F., Roos, A., et al. (2021) · Photoacoustics · doi:10.1016/j.pacs.2021.100315 · Cited by 35

Spinal Muscular Atrophies

Darras, B. T., Markowitz, J. A., Monani, U. R., & Vivo, D. C. D. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-417044-5.00008-1 · Cited by 36

A Comparison of Three Electrophysiological Methods for the Assessment of Disease Status in a Mild Spinal Muscular Atrophy Mouse Model

Li, J., Geisbush, T. R., Arnold, W. D., Rosen, G. D., Zaworski, P. G., & Rutkove, S. B. (2014) · PLoS ONE · doi:10.1371/journal.pone.0111428 · Cited by 32

Threshold for Pre-existing Antibody Levels Limiting Transduction Efficiency of Systemic rAAV9 Gene Delivery: Relevance for Translation

Meadows, A. S., Pineda, R. J., Goodchild, L., Bobo, T. A., & Fu, H. (2019) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2019.04.004 · Cited by 31

Survival motor neuron protein regulates oxidative stress and inflammatory response in microglia of the spinal cord in spinal muscular atrophy.

Ando, S., Osanai, D., Takahashi, K., Nakamura, S., Shimazawa, M., & Hara, H. (2020) · Journal of Pharmacological Sciences · doi:10.1016/j.jphs.2020.09.001 · Cited by 27

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

Naveed, A., & Calderon, H. (2021) · The Journal of Pediatric Pharmacology and Therapeutics · doi:10.5863/1551-6776-26.5.437 · Cited by 32

Gene transfer to the CNS is efficacious in immune-primed mice harboring physiologically relevant titers of anti-AAV antibodies

Treleaven, C. M., Tamsett, T. J., Bu, J., Fidler, J. A., Sardi, S. P., Hurlbut, G. D., Woodworth, L. A., Cheng, S. H., Passini, M. A., Shihabuddin, L. S., et al. (2012) · Molecular Therapy · doi:10.1038/mt.2012.114 · Cited by 31

Immune responses to central nervous system directed adeno-associated virus gene therapy: Does direct CNS delivery make a difference?

Harkins, A. L., Ambegaokar, P. P., & Keeler, A. M. (2024) · Neurotherapeutics · doi:10.1016/j.neurot.2024.e00435 · Cited by 36

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

Utility of Survival Motor Neuron ELISA for Spinal Muscular Atrophy Clinical and Preclinical Analyses

Kobayashi, D. T., Olson, R. J., Sly, L. M., Swanson, C. J., Chung, B., Naryshkin, N. A., Narasimhan, J., Bhattacharyya, A., Mullenix, M. C., & Chen, K. S. (2011) · PLoS ONE · doi:10.1371/journal.pone.0024269 · Cited by 31

Stem Cell Model of Spinal Muscular Atrophy

Ebert, A. D., & Svendsen, C. N. (2010) · Archives of Neurology · doi:10.1001/archneurol.2010.89 · Cited by 30

Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction

Lanfranco, M., Vassallo, N., & Cauchi, R. J. (2017) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2017.00041 · Cited by 31

Treating neuromuscular diseases: unveiling gene therapy breakthroughs and pioneering future applications

Wu, Y., Chen, J., & Jong, Y. (2025) · Journal of Biomedical Science · doi:10.1186/s12929-025-01123-z · Cited by 32

Gene Transfer to the CNS Using Recombinant Adeno‐Associated Virus

Stoica, L., Ahmed, S. S., Gao, G., & Sena‐Esteves, M. (2013) · Current Protocols in Microbiology · doi:10.1002/9780471729259.mc14d05s29 · Cited by 29

Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy

Rothwell, E., Anderson, R. A., Swoboda, K. J., Stark, L. A., & Botkin, J. R. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35756 · Cited by 30

Optimization of Morpholino Antisense Oligonucleotides Targeting the Intronic Repressor Element1 in Spinal Muscular Atrophy

Osman, E. Y., Washington, C. W., Kaifer, K. A., Mazzasette, C., Patitucci, T. N., Florea, K. M., Simon, M. E., Ko, C., Ebert, A. D., & Lorson, C. L. (2016) · Molecular Therapy · doi:10.1038/mt.2016.145 · Cited by 30

Timing of Gene Therapy Interventions: The Earlier, the Better

Gray, S. J. (2016) · Molecular Therapy · doi:10.1038/mt.2016.20 · Cited by 30

Genetic approaches to the treatment of inherited neuromuscular diseases

Ravi, B., Antonellis, A., Sumner, C. J., & Lieberman, A. P. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz131 · Cited by 30

Repair of pre-mRNA splicing

Nlend, R. N., Meyer, K., & Schümperli, D. (2010) · RNA Biology · doi:10.4161/rna.7.4.12206 · Cited by 30

Spinal Muscular Atrophy and the Antiapoptotic Role of Survival of Motor Neuron (SMN) Protein

Anderton, R. S., Meloni, B. P., Mastaglia, F. L., & Boulos, S. (2013) · Molecular Neurobiology · doi:10.1007/s12035-013-8399-5 · Cited by 33

Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy

Butchbach, M. E. R., Lumpkin, C. J., Harris, A. W., Saieva, L., Edwards, J. D., Workman, E., Simard, L. R., Pellizzoni, L., & Burghes, A. H. M. (2016) · Experimental Neurology · doi:10.1016/j.expneurol.2016.02.009 · Cited by 30

Microvasculopathy in spinal muscular atrophy is driven by a reversible autonomous endothelial cell defect

Zhou, H., Hong, Y., Scoto, M., Thomson, A. K., Pead, E., MacGillivray, T., Hernandez‐Gerez, E., Catapano, F., Meng, J., Zhang, Q., et al. (2022) · Journal of Clinical Investigation · doi:10.1172/jci153430 · Cited by 32

An Engineered Galactosylceramidase Construct Improves AAV Gene Therapy for Krabbe Disease in Twitcher Mice

Pan, X., Sands, S. A., Yue, Y., Zhang, K., LeVine, S. M., & Duan, D. (2019) · Human Gene Therapy · doi:10.1089/hum.2019.008 · Cited by 29

Targeting Ligands Deliver Model Drug Cargo into the Central Nervous System along Autonomic Neurons

Sellers, D. L., Tan, J. Y., Pineda, J. M. B., Peeler, D. J., Porubsky, V. L., Olden, B. R., Salipante, S. J., & Pun, S. H. (2019) · ACS Nano · doi:10.1021/acsnano.9b01515 · Cited by 29

Targeting RNA-Splicing for SMA Treatment

Zhou, J., Zheng, X., & Shen, H. (2012) · Molecules and Cells · doi:10.1007/s10059-012-0005-6 · Cited by 29

CNS Drug Delivery in Stroke: Improving Therapeutic Translation From the Bench to the Bedside

Ronaldson, P. T., Williams, E. I., Betterton, R. D., Stanton, J. A., Nilles, K. L., & Davis, T. P. (2023) · Stroke · doi:10.1161/strokeaha.123.043764 · Cited by 30

A GLP-Compliant Toxicology and Biodistribution Study: Systemic Delivery of an rAAV9 Vector for the Treatment of Mucopolysaccharidosis IIIB

Meadows, A. S., Duncan, F. J., Camboni, M., Waligura, K., Montgomery, C. L., Zaraspe, K., Naughton, B. J., Bremer, W. G., Shilling, C. J., Walker, C. M., et al. (2015) · Human Gene Therapy Clinical Development · doi:10.1089/humc.2015.132 · Cited by 28

Global CNS correction in a large brain model of human alpha-mannosidosis by intravascular gene therapy

Yoon, S. Y., Hunter, J. E., Chawla, S., Clarke, D. L., Molony, C. M., O’Donnell, P. A., Bagel, J. H., Kumar, M., Poptani, H., Vite, C. H., et al. (2020) · Brain · doi:10.1093/brain/awaa161 · Cited by 27

Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy

Liew, W. K. M., & Kang, P. B. (2013) · Therapeutic Advances in Neurological Disorders · doi:10.1177/1756285612472386 · Cited by 28

Molecular, genetic and stem cell‐mediated therapeutic strategies for spinal muscular atrophy ( SMA )

Zanetta, C., Riboldi, G. M., Nizzardo, M., Simone, C., Faravelli, I., Bresolin, N., Comi, G. P., & Corti, S. P. (2014) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.12224 · Cited by 28

Prospects for the gene therapy of spinal muscular atrophy

Passini, M. A., & Cheng, S. H. (2011) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2011.01.002 · Cited by 27

Drug treatment for spinal muscular atrophy type I

Wadman, R. I., van der Pol, W. L., Bosboom, W. M., Asselman, F., van den Berg, L. H., Iannaccone, S. T., & Vrancken, A. F. J. E. (2019) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd006281.pub5 · Cited by 30

U1A Regulates 3′ Processing of the Survival Motor Neuron mRNA

Workman, E., Veith, A. C., & Battle, D. J. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m113.538264 · Cited by 27

Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model

Bebee, T. W., Dominguez, C. E., Tarighat, S. S., Akehurst, K. L., & Chandler, D. S. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds263 · Cited by 27

Seize the day: Newborn screening for SMA

Swoboda, K. J. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33519 · Cited by 27

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 33

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

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