Comparison of high-dose intracisterna magna and lumbar puncture intrathecal delivery of AAV9 in mice to treat neuropathies

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

Foust, K. D., Nurre, E., Montgomery, C. L., Hernandez, A., Chan, C. M., & Kaspar, B. K. (2009) · Nature Biotechnology · doi:10.1038/nbt.1515 · Cited by 1,456 · see citing works

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 · see citing works

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 · see citing works

Preclinical differences of intravascular AAV9 delivery to neurons and glia: a comparative study of adult mice and nonhuman primates

Gray, S. J., Matagne, V., Bachaboina, L., Yadav, S., Ojeda, S. R., & Samulski, R. J. (2011) · Molecular Therapy · doi:10.1038/mt.2011.72 · Cited by 501 · see citing works

Optimizing promoters for recombinant adeno-associated virus-mediated gene expression in the peripheral and central nervous system using self-complementary vectors

Gray, S. J., Foti, S. B., Schwartz, J. W., Bachaboina, L., Taylor-Blake, B., Coleman, J., Ehlers, M. D., Zylka, M. J., McCown, T. J., & Samulski, R. J. (2011) · Human Gene Therapy · doi:10.1089/hum.2010.245 · Cited by 420 · see citing works

Rapid and highly efficient transduction by double-stranded adeno-associated virus vectors in vitro and in vivo

Wang, Z., Ma, H.-I., Li, J., Sun, L., Zhang, J., & Xiao, X. (2003) · Gene Therapy · doi:10.1038/sj.gt.3302133 · Cited by 413 · see citing works

Global CNS gene delivery and evasion of anti-AAV-neutralizing antibodies by intrathecal AAV administration in non-human primates

Gray, S. J., Nagabhushan Kalburgi, S., McCown, T. J., & Jude Samulski, R. (2013) · Gene Therapy · doi:10.1038/gt.2012.101 · Cited by 377 · cited 2× · see citing works

Adeno-Associated Virus Serotype 9 Transduction in the Central Nervous System of Nonhuman Primates

Samaranch, L., Salegio, E. A., San Sebastian, W., Kells, A. P., Foust, K. D., Bringas, J. R., Lamarre, C., Forsayeth, J., Kaspar, B. K., & Bankiewicz, K. S. (2012) · Human Gene Therapy · doi:10.1089/hum.2011.200 · Cited by 299 · see citing works

Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates

Meyer, K., Ferraiuolo, L., Schmelzer, L., Braun, L., McGovern, V., Likhite, S., Michels, O., Govoni, A., Fitzgerald, J., Morales, P., et al. (2015) · Molecular Therapy · doi:10.1038/mt.2014.210 · Cited by 286 · see citing works

Manufacturing of recombinant adeno-associated viral vectors for clinical trials

Clément, N., & Grieger, J. C. (2016) · Molecular Therapy - Methods & Clinical Development · doi:10.1038/mtm.2016.2 · Cited by 286 · see citing works

Viral vectors for gene delivery to the central nervous system

Lentz, T. B., Gray, S. J., & Samulski, R. J. (2011) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.09.014 · Cited by 274 · see citing works

Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

Timmerman, V., Strickland, A. V., & Züchner, S. (2014) · Genes · doi:10.3390/genes5010013 · Cited by 234 · see citing works

Biodistribution of adeno-associated virus serotype 9 (AAV9) vector after intrathecal and intravenous delivery in mouse

Schuster, D. J., Dykstra, J. A., Riedl, M. S., Kitto, K. F., Belur, L. R., McIvor, R. S., Elde, R. P., Fairbanks, C. A., & Vulchanova, L. (2014) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2014.00042 · Cited by 177 · see citing works

Robust spinal motor neuron transduction following intrathecal delivery of AAV9 in pigs

Federici, T., Taub, J. S., Baum, G. R., Gray, S. J., Grieger, J. C., Matthews, K. A., Handy, C. R., Passini, M. A., Samulski, R. J., & Boulis, N. M. (2011) · Gene Therapy · doi:10.1038/gt.2011.130 · Cited by 169 · see citing works

Biology of adeno-associated viral vectors in the central nervous system

Murlidharan, G., Samulski, R. J., & Asokan, A. (2014) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2014.00076 · Cited by 157 · see citing works

AAV9-mediated Expression of a Non-self Protein in Nonhuman Primate Central Nervous System Triggers Widespread Neuroinflammation Driven by Antigen-presenting Cell Transduction

Samaranch, L., Sebastián, W. S., Kells, A. P., Salegio, E. A., Heller, G., Bringas, J. R., Pivirotto, P., DeArmond, S. J., Forsayeth, J., & Bankiewicz, K. S. (2013) · Molecular Therapy · doi:10.1038/mt.2013.266 · Cited by 157 · see citing works

Strong Cortical and Spinal Cord Transduction After AAV7 and AAV9 Delivery into the Cerebrospinal Fluid of Nonhuman Primates

Samaranch, L., Salegio, E. A., Sebastián, W. S., Kells, A. P., Bringas, J. R., Forsayeth, J., & Bankiewicz, K. S. (2013) · Human Gene Therapy · doi:10.1089/hum.2013.005 · Cited by 155 · see citing works

Production of Recombinant Adeno‐Associated Viral Vectors and Use in In Vitro and In Vivo Administration

Gray, S. J., Choi, V. W., Asokan, A., Haberman, R. A., McCown, T. J., & Samulski, R. J. (2011) · Current Protocols in Neuroscience · doi:10.1002/0471142301.ns0417s57 · Cited by 130 · see citing works

Widespread gene transfer in the central nervous system of cynomolgus macaques following delivery of AAV9 into the cisterna magna

Hinderer, C. J., Bell, P. L., Vite, C. H., Louboutin, J., Grant, R. L., Bote, E., Yu, H., Pukenas, B. A., Hurst, R. W., & Wilson, J. M. (2014) · Molecular Therapy — Methods & Clinical Development · doi:10.1038/mtm.2014.51 · Cited by 129 · see citing works

Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy

Bailey, R. M., Armao, D. M., Kalburgi, S. N., & Gray, S. J. (2018) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2018.02.005 · Cited by 128 · see citing works

Inherited Peripheral Neuropathies

Saporta, M., & Shy, M. E. (2013) · Neurologic Clinics · doi:10.1016/j.ncl.2013.01.009 · Cited by 124 · see citing works

Toxicology Study of Intra-Cisterna Magna Adeno-Associated Virus 9 Expressing Human Alpha-L-Iduronidase in Rhesus Macaques

Hordeaux, J., Hinderer, C., Goode, T., Katz, N., Buza, E. L., Bell, P., Calcedo, R., Richman, L. K., & Wilson, J. M. (2018) · Molecular Therapy - Methods & Clinical Development · doi:10.1016/j.omtm.2018.06.003 · Cited by 105 · see citing works

Inherited neuropathies: Clinical overview and update

Klein, C. J., Duan, X., & Shy, M. E. (2013) · Muscle & Nerve · doi:10.1002/mus.23775 · Cited by 88 · see citing works

Kinetics and MR-Based Monitoring of AAV9 Vector Delivery into Cerebrospinal Fluid of Nonhuman Primates

Ohno, K., Samaranch, L., Hadaczek, P., Bringas, J. R., Allen, P. C., Sudhakar, V., Stockinger, D. E., Snieckus, C., Campagna, M. V., San Sebastian, W., et al. (2019) · Molecular Therapy - Methods & Clinical Development · doi:10.1016/j.omtm.2018.12.001 · Cited by 85 · see citing works

Improved MECP2 Gene Therapy Extends the Survival of MeCP2-Null Mice without Apparent Toxicity after Intracisternal Delivery

Sinnett, S. E., Hector, R. D., Gadalla, K. K. E., Heindel, C., Chen, D., Zaric, V., Bailey, M. E. S., Cobb, S., & Gray, S. J. (2017) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2017.04.006 · Cited by 84 · see citing works

Toxicology Study of Intra-Cisterna Magna Adeno-Associated Virus 9 Expressing Iduronate-2-Sulfatase in Rhesus Macaques

Hordeaux, J., Hinderer, C., Goode, T., Buza, E. L., Bell, P., Calcedo, R., Richman, L. K., & Wilson, J. M. (2018) · Molecular Therapy - Methods & Clinical Development · doi:10.1016/j.omtm.2018.06.004 · Cited by 81 · see citing works

Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models

Morelli, K. H., Griffin, L. B., Pyne, N. K., Wallace, L. M., Fowler, A. M., Oprescu, S. N., Takase, R., Wei, N., Meyer‐Schuman, R., Mellacheruvu, D., et al. (2019) · Journal of Clinical Investigation · doi:10.1172/jci130600 · Cited by 70 · see citing works

Is Spinal Muscular Atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?

Simone, C., Ramirez, A., Bucchia, M., Rinchetti, P., Rideout, H., Papadimitriou, D., Re, D., & Corti, S. (2015) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-015-2106-9 · Cited by 65 · see citing works

Intrathecal administration of AAV/GALC vectors in 10-11-day-old twitcher mice improves survival and is enhanced by bone marrow transplant

Karumuthil‐Melethil, S., Marshall, M. S., Heindel, C., Jakubauskas, B., Bongarzone, E. R., & Gray, S. J. (2016) · Journal of Neuroscience Research · doi:10.1002/jnr.23882 · Cited by 51 · see citing works

Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease

Karumuthil‐Melethil, S., Kalburgi, S. N., Thompson, P., Tropak, M. B., Kaytor, M. D., Keimel, J. G., Mark, B. L., Mahuran, D. J., Walia, J. S., & Gray, S. J. (2016) · Human Gene Therapy · doi:10.1089/hum.2016.013 · Cited by 43 · see citing works

Paroxysmal sympathetic hyperactivity in Juvenile neuronal ceroid lipofuscinosis (Batten disease)

Østergaard, J. R. (2018) · Autonomic Neuroscience · doi:10.1016/j.autneu.2018.07.003 · Cited by 27 · see citing works

Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease

Armao, D. M., Bailey, R. M., Bouldin, T. W., Kim, Y., & Gray, S. J. (2016) · Clinical Autonomic Research · doi:10.1007/s10286-016-0365-7 · Cited by 12 · see citing works

Current clinical applications of in vivo gene therapy with AAVs

Mendell, J. R., Al-Zaidy, S. A., Rodino-Klapac, L. R., Goodspeed, K., Gray, S. J., Kay, C. N., Boye, S. L., Boye, S. E., George, L. A., Salabarria, S., et al. (2021) · Molecular Therapy · doi:10.1016/j.ymthe.2020.12.007 · Cited by 743 · see citing works

AAV vectors applied to the treatment of CNS disorders: Clinical status and challenges

Kang, L., Jin, S., Wang, J., Lv, Z., Xin, C., Tan, C., Zhao, M., Wang, L., & Liu, J. (2023) · Journal of Controlled Release · doi:10.1016/j.jconrel.2023.01.067 · Cited by 131 · see citing works

Sestrin2 overexpression attenuates osteoarthritis pain via induction of AMPK/PGC-1α-mediated mitochondrial biogenesis and suppression of neuroinflammation

Sun, J., Song, F., Wu, J., Zhang, L.-Q., Li, D., Gao, S., Liu, D.-Q., Zhou, Y., & Mei, W. (2022) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2022.02.015 · Cited by 117 · see citing works

Biodistribution of Adeno-Associated Virus Gene Therapy Following Cerebrospinal Fluid-Directed Administration

Chen, X., Lim, D. A., Lawlor, M. W., Dimmock, D., Vite, C. H., Lester, T. L., Tavakkoli, F., Sadhu, C., Prasad, S., & Gray, S. J. (2023) · Human Gene Therapy · doi:10.1089/hum.2022.163 · Cited by 68 · see citing works

A Multifaceted Approach to Optimizing AAV Delivery to the Brain for the Treatment of Neurodegenerative Diseases

Fischell, J. M., & Fishman, P. S. (2021) · Frontiers in Neuroscience · doi:10.3389/fnins.2021.747726 · Cited by 66 · see citing works

AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy

Kagiava, A., Karaiskos, C., Richter, J., Tryfonos, C., Jennings, M. J., Heslegrave, A., Sargiannidou, I., Stavrou, M., Zetterberg, H., Reilly, M. M., et al. (2021) · Gene Therapy · doi:10.1038/s41434-021-00250-0 · Cited by 65 · see citing works

Enhanced CNS transduction from AAV.PHP.eB infusion into the cisterna magna of older adult rats compared to AAV9

Chatterjee, D., Marmion, D. J., McBride, J. L., Manfredsson, F. P., Butler, D., Messer, A. C., & Kordower, J. H. (2021) · Gene Therapy · doi:10.1038/s41434-021-00244-y · Cited by 54 · see citing works

Future Prospects of Gene Therapy for Friedreich’s Ataxia

Ocana-Santero, G., Díaz‐Nido, J., & Herranz-Martín, S. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22041815 · Cited by 53 · see citing works

AAV9/MFSD8 gene therapy is effective in preclinical models of neuronal ceroid lipofuscinosis type 7 disease

Chen, X., Dong, T., Hu, Y., Shaffo, F. C., Belur, N. R., Mazzulli, J. R., & Gray, S. J. (2022) · Journal of Clinical Investigation · doi:10.1172/jci146286 · Cited by 45 · see citing works

Reprogramming astrocytes to motor neurons by activation of endogenous Ngn2 and Isl1

Zhou, M., Tao, X., Sui, M., Cui, M., Liu, D., Wang, B., Wang, T., Zheng, Y., Luo, J., Mu, Y., et al. (2021) · Stem Cell Reports · doi:10.1016/j.stemcr.2021.05.020 · Cited by 44 · see citing works

Delivery Platforms for CRISPR/Cas9 Genome Editing of Glial Cells in the Central Nervous System

Meneghini, V., Peviani, M., Luciani, M., Zambonini, G., & Gritti, A. (2021) · Frontiers in Genome Editing · doi:10.3389/fgeed.2021.644319 · Cited by 36 · see citing works

Lipid Nanoparticles Enhance mRNA Delivery to the Central Nervous System Upon Intrathecal Injection

Xue, Y., Wang, C., Li, H., Du, S., Zhong, Y., Zhang, Y., Wang, S., Guo, K., Hou, X., Kang, D. D., et al. (2025) · Advanced Materials · doi:10.1002/adma.202417097 · Cited by 34 · see citing works

Adeno-associated viral vector serotype 9-based gene replacement therapy for SURF1-related Leigh syndrome

Ling, Q., Rioux, M., Hu, Y., Lee, M., & Gray, S. J. (2021) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2021.09.001 · Cited by 34 · see citing works

Efficacy of AAV serotypes to target Schwann cells after intrathecal and intravenous delivery

Kagiava, A., Richter, J., Tryfonos, C., Leal-Julià, M., Sargiannidou, I., Christodoulou, C., Bosch, A., & Kleopa, K. A. (2021) · Scientific Reports · doi:10.1038/s41598-021-02694-1 · Cited by 34 · see citing works

AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model

Presa, M. F., Bailey, R. M., Davis, C., Murphy, T. C., Cook, J., Walls, R., Wilpan, H., Bogdanik, L. P., Lenk, G. M., Burgess, R. W., et al. (2021) · Journal of Clinical Investigation · doi:10.1172/jci137159 · Cited by 34 · see citing works

Intrathecal delivery and its applications in leptomeningeal disease

Khang, M., Bindra, R. S., & Saltzman, W. M. (2022) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2022.114338 · Cited by 33 · 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

Adeno-associated virus therapies: Pioneering solutions for human genetic diseases

Liu, D., Tian, L., Liu, L., Che, X., Li, X., Liu, C., & Wu, G. (2024) · Cytokine & Growth Factor Reviews · doi:10.1016/j.cytogfr.2024.09.003 · Cited by 27 · see citing works

Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector Delivery

Ahrens‐Nicklas, R. C., Kotch, C., Roche, A. M., Everett, J. K., Reddy, S., Santi, M., Madsen, P. J., Martos-Rus, C., Yrigollen, C. M., Small, J. C., et al. (2026) · New England Journal of Medicine · doi:10.1056/nejmoa2601608 · Cited by 25 · see citing works

Delivery of therapeutic AAV9 vectors via cisterna magna to treat neurological disorders

Marchi, P. M., Marrone, L., & Azzouz, M. (2022) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2021.09.007 · Cited by 21 · see citing works

Early postnatal administration of an AAV9 gene therapy is safe and efficacious in CLN3 disease

Johnson, T. B., Brudvig, J. J., Likhite, S. B., Pratt, M. A., White, K. A., Cain, J. T., Booth, C. D., Timm, D. J., Davis, S. S., Meyerink, B. L., et al. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1118649 · Cited by 21 · see citing works

Intra-cisterna magna delivery of an AAV vector with the GLUT1 promoter in a pig recapitulates the physiological expression of SLC2A1

Nakamura, S., Osaka, H., Muramatsu, S., Takino, N., Ito, M., Jimbo, E. F., Watanabe, C., Hishikawa, S., Nakajima, T., & Yamagata, T. (2020) · Gene Therapy · doi:10.1038/s41434-020-00203-z · Cited by 20 · see citing works

MCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV

DeRosa, S., Salani, M., Smith, S., Sangster, M., Miller-Browne, V., Wassmer, S., Xiao, R., Vandenberghe, L. H., Slaugenhaupt, S. A., Misko, A. L., et al. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab093 · Cited by 20 · see citing works

Safety and Efficacy of Intravenous and Intrathecal Delivery of AAV9-Mediated ARSA in Minipigs

Mullagulova, A. I., Shaimardanova, A. A., Solovyeva, V. V., Mukhamedshina, Y. O., Chulpanova, D. S., Kostennikov, A., Issa, S. S., & Rizvanov, A. A. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24119204 · Cited by 20 · see citing works

Investigating the Impact of Delivery Routes for Exon Skipping Therapies in the CNS of DMD Mouse Models

Saoudi, A., Fergus, C., Gileadi, T. E., Montanaro, F., Morgan, J. E., Kelly, V. P., Tensorer, T., Garcı́a, L., Vaillend, C., Francesco Muntoni, A., et al. (2023) · Cells · doi:10.3390/cells12060908 · Cited by 19 · see citing works

Extracellular Vesicles Administered via Intrathecal Injection Mediate Safe Delivery of Nucleic Acids to the Central Nervous System for Gene Therapy

Lam, B. W. S., Tan, M., Gao, C. J., Pham, T. T., Tran, L. T. N., Nguyen, L. N., Sidik, H., Lim, M. B. H., Le, A. H., Nguyen, T. T. T., et al. (2025) · Journal of Extracellular Vesicles · doi:10.1002/jev2.70116 · Cited by 19 · see citing works

Treatment of adult metachromatic leukodystrophy model mice using intrathecal administration of type 9 AAV vector encoding arylsulfatase A

Miyake, N., Miyake, K., Sakai, A., Yamamoto, M., Suzuki, H., & Shimada, T. (2021) · Scientific Reports · doi:10.1038/s41598-021-99979-2 · Cited by 18 · see citing works

Assessment of AAV9 distribution and transduction in rats after administration through Intrastriatal, Intracisterna magna and Lumbar Intrathecal routes

Chandran, J. S., Chowdhury, E. A., Perkinton, M. S., Jamier, T., Sutton, D., Wu, S., Dobson, C., Shah, D. K., Chessell, I. P., & Meno‐Tetang, G. M. L. (2022) · Gene Therapy · doi:10.1038/s41434-022-00346-1 · Cited by 18 · see citing works

A comparison of in vivo viral targeting systems identifies adeno‐associated virus serotype 9 (AAV9) as an effective vector for genetic manipulation of Leydig cells in adult mice

Darbey, A. L., Rebourcet, D., Curley, M. K., Kilcoyne, K. R., Jeffery, N., Reed, N., Milne, L., Roesl, C., Brown, P., & Smith, L. B. (2020) · Andrology · doi:10.1111/andr.12915 · Cited by 16 · see citing works

Gene therapy of adeno‐associated virus ( AAV ) vectors in preclinical models of ischemic stroke

Wang, J., Zhu, M., Sun, J., Feng, L., Yang, M., Sun, B., & Mao, L. (2023) · CNS Neuroscience & Therapeutics · doi:10.1111/cns.14392 · Cited by 13 · see citing works

Gene therapy for neurotransmitter‐related disorders

Chu, W. S., Ng, J., Waddington, S. N., & Kurian, M. A. (2024) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12697 · Cited by 14 · see citing works

Expression and distribution of rAAV9 intrathecally administered in juvenile to adolescent mice

Garza, I. T., Eller, M. M., Holmes, S. K., Schackmuth, M. K., & Bailey, R. M. (2024) · Gene Therapy · doi:10.1038/s41434-024-00498-2 · Cited by 14 · see citing works

Toxicologic Pathology Forum: Opinion on Interpretive Challenges for Procedure-Related Effects Associated With Direct Central Nervous System Delivery of Oligonucleotides to Rodents, Dogs, and Nonhuman Primates

Berman-Booty, L. D., Klein, S., Mazur, C., Schroeder, J., Korte, S., Ludwig, F. T., Romeike, A., Bolon, B. N., & Grieves, J. L. (2023) · Toxicologic Pathology · doi:10.1177/01926233231218953 · Cited by 13 · see citing works

In vivo selection in non-human primates identifies AAV capsids for on-target CSF delivery to spinal cord

Hanlon, K. S., Cheng, M. L., Ferrer, R. M., Ryu, J. R., Lee, B., de la Cruz, D., Patel, N. J., Espinoza, P., Santoscoy, M. C., Gong, Y., et al. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.05.040 · Cited by 14 · see citing works

Positron Emission Tomography Quantitative Assessment of Off-Target Whole-Body Biodistribution of I-124-Labeled Adeno-Associated Virus Capsids Administered to Cerebral Spinal Fluid

Rosenberg, J. B., Fung, E. K., Dyke, J. P., De, B. P., Lou, H. H., Kelly, J. M., Reejhsinghani, L., Arbona, R. J. R., Sondhi, D., Kaminsky, S. M., et al. (2023) · Human Gene Therapy · doi:10.1089/hum.2023.060 · Cited by 11 · 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

Pharmacokinetics of AAV9 Mediated Trastuzumab Expression in Rat Brain Following Systemic and Local Administration

Chowdhury, E. A., Ahuja, M., Wu, S., Liu, S., Huang, H. W., Kumar, M., Sunkara, K. S., Ghobrial, A., Chandran, J. S., Jamier, T., et al. (2023) · Journal of Pharmaceutical Sciences · doi:10.1016/j.xphs.2023.08.023 · Cited by 10 · see citing works

Emerging therapies in hereditary ataxias

Eisel, M. L. S., Burns, M., Ashizawa, T., Byrne, B. J., Corti, M., & Subramony, S. H. (2024) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2024.07.008 · Cited by 10 · see citing works

Long-Term Disease Prevention with a Gene Therapy Targeting Oligodendrocytes in a Mouse Model of Adrenomyeloneuropathy

Özgür-Günes, Y., Chedik, M., Le Stunff, C., Fovet, C.-M., & Bougnères, P. (2022) · Human Gene Therapy · doi:10.1089/hum.2021.293 · Cited by 10 · see citing works

Intrathecal delivery of a bicistronic AAV9 vector expressing β-hexosaminidase A corrects Sandhoff disease in a murine model: A dosage study

Ryckman, A. E., Deschenes, N. M., Quinville, B. M., Osmon, K. J. L., Mitchell, M., Chen, Z., Gray, S. J., & Walia, J. S. (2023) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2023.101168 · Cited by 9 · see citing works

The potential of gene delivery for the treatment of traumatic brain injury

Dooley, J., Hughes, J. G., Needham, E., Palios, K. A., & Liston, A. (2024) · Journal of Neuroinflammation · doi:10.1186/s12974-024-03156-x · Cited by 9 · see citing works

Improved AAV9-based gene therapy design for SURF1-related Leigh syndrome with minimal toxicity

Ling, Q., Rioux, M., Higgs, H., Hu, Y., Dwyer, S. E., & Gray, S. J. (2025) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2025.101554 · Cited by 9 · see citing works

Focused ultrasound widely broadens AAV-delivered Cas9 distribution and activity

Gumusgoz, E., Kasiri, S., Youssef, I., Verma, M., Chopra, R., Acha, D. V., Wu, J., Marriam, U., Alao, E. D., Chen, X., et al. (2025) · Gene Therapy · doi:10.1038/s41434-025-00517-w · Cited by 8 · see citing works

VWA3A-derived ependyma promoter drives increased therapeutic protein secretion into the CSF

Carrell, E. M., Chen, Y. H., Ranum, P. T., Coffin, S. L., Singh, L. N., Tecedor, L., Keiser, M. S., Hudry, E., Hyman, B. T., & Davidson, B. L. (2023) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2023.07.016 · Cited by 7 · see citing works

Biomaterial‐Based Gene Delivery to Central Nervous System Cells for the Treatment of Spinal Cord Injury

McGuire, T. K., Stasiewicz, M., Woods, I., Dervan, A. G., & O’Brien, F. J. (2023) · Advanced NanoBiomed Research · doi:10.1002/anbr.202300030 · Cited by 7 · see citing works

Transduction characteristics of alternative adeno-associated virus serotypes in the cat brain by intracisternal delivery

Hunter, J. E., Molony, C. M., Bagel, J. H., O’Donnell, P. A., Kaler, S. G., & Wolfe, J. H. N. (2022) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2022.07.007 · Cited by 7 · see citing works

Intrathecal or intravenous AAV9-IDUA/RGX-111 at minimal effective dose prevents cardiac, skeletal and neurologic manifestations of murine MPS I

Belur, L. R., Huber, A. K., Mantone, H., Robertson, M., Smith, M. C., Karlen, A. D., Kitto, K. F., Ou, L., Whitley, C. B., Braunlin, E., et al. (2024) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2024.101369 · Cited by 6 · see citing works

Advances and Challenges in Adeno-Associated Virus Gene Therapy Applications of Localized Delivery Strategies

Chen, J.-H., Zhan, L.-J., Lv, C.-M., Teng, J.-B., & Cao, C. (2025) · Current Medical Science · doi:10.1007/s11596-025-00084-6 · Cited by 6 · see citing works

High-frequency ultrasound-guided intrathecal injections in a young mouse model: Targeting the central nervous system in drug delivery

Choi, S. E., Rahman, A., Ayoub, T., Botelho, O., Lee, G., Gazdzinski, L. M., Wheeler, A. L., Weksberg, R., Guger, S., Schachar, R. J., et al. (2022) · Journal of Neuroscience Methods · doi:10.1016/j.jneumeth.2022.109778 · Cited by 6 · see citing works

Intracranial Gene Delivery Mediated by Albumin-Based Nanobubbles and Low-Frequency Ultrasound

Koga, T., Kida, H., Yamasaki, Y., Feril, L. B., Endo, H., Itaka, K., Abe, H., & Tachibana, K. (2024) · Nanomaterials · doi:10.3390/nano14030285 · Cited by 6 · see citing works

Small G-Protein Rheb Gates Mammalian Target of Rapamycin Signaling to Regulate Morphine Tolerance in Mice

Wang, W., Ma, X., Du, W., Lin, R., Li, Z., Jiang, W., Wang, L., Worley, P. F., & Xu, T. (2023) · Anesthesiology · doi:10.1097/aln.0000000000004885 · Cited by 7 · see citing works

Rescue of myocytes and locomotion through AAV2/9-2YF intracisternal gene therapy in a rat model of creatine transporter deficiency

Fernandes‐Pires, G., Azevedo, M. D., Lanzillo, M., Roux‐Petronelli, C., Binz, P., Cudalbu, C., Sandi, C., Tenenbaum, L., & Braissant, O. (2024) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2024.101251 · Cited by 6 · see citing works

Gene therapy in the CNS—one size does not fit all

Andrews, M. R. (2020) · Gene Therapy · doi:10.1038/s41434-020-00196-9 · Cited by 6 · see citing works

A single dose of a vectorized mAb targeting TDP-43 potently inhibits the neuropathology in a model of ALS/FTD

del Val, G., Gauye, F., Audrain, M., Menant, S., Ratnam, M., Chevalier, E., Ollier, R., Bhatia, D., Seredenina, T. S., Afroz, T., et al. (2025) · Molecular Therapy · doi:10.1016/j.ymthe.2025.06.026 · Cited by 5 · see citing works

Genetic Approaches for the Treatment of Giant Axonal Neuropathy

Shirakaki, S., Roshmi, R. R., & Yokota, T. (2022) · Journal of Personalized Medicine · doi:10.3390/jpm13010091 · Cited by 3 · see citing works

Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency

Presa, M. F., Bailey, R. M., Ray, S., Bailey, L., Tata, S., Murphy, T. C., Piec, P.-A., Combs, H., Gray, S. J., & Lutz, C. M. (2025) · Communications Medicine · doi:10.1038/s43856-025-00734-9 · Cited by 3 · see citing works

Lumbar Intrathecal Injection of Gene Therapy Vectors for Central Nervous System Targeting in Mice and Rats

Boitnott, A., Rioux, M., Chen, X., & Gray, S. J. (2025) · Journal of Visualized Experiments · doi:10.3791/67138 · Cited by 3 · see citing works

Altered motor coordination, vocal communication, and cerebellar circuit connectivity in mice carrying a near-complete human chromosome 21

Stander, R. M. H., Ayyappan, N., Sikorski, D., van der Heijden, M. E., & Hsiao, K. (2025) · Translational Psychiatry · doi:10.1038/s41398-025-03744-2 · Cited by 4 · see citing works

Nanoparticle distribution in the central nervous system following intrathecal administration: A multi-modal analysis of lumbar versus cisterna magna routes

Babayemi, O. H., Fotso, C. M., Chaudhuri, S., Sablatura, L. K., Baker, C., Velasquez, F. C., Morton, J., Sevick-Muraca, E. M., & Sirianni, R. W. (2025) · Nanomedicine Nanotechnology Biology and Medicine · doi:10.1016/j.nano.2025.102877 · Cited by 3 · see citing works

Progress and challenges in intrathecal gene therapy for neurological disorders

Kagiava, A., Chen, X., Finkel, R. S., Gray, S. J., & Kleopa, K. A. (2026) · EBioMedicine · doi:10.1016/j.ebiom.2026.106294 · Cited by 3 · see citing works

Schwann cell gene therapies in sight

Zuchner, S. L. (2021) · Gene Therapy · doi:10.1038/s41434-021-00264-8 · Cited by 3 · see citing works

Lafora disease gene therapy: EPM2A but not EPM2B overexpression results in Lafora body formation

Alao, E. D., Sheibani, M., Wu, J., Marriam, U., Evans, D., Kasiri, S., Verma, M., Nitschke, S., Nitschké, F., Gray, S. J., et al. (2026) · Neurotherapeutics · doi:10.1016/j.neurot.2026.e00866 · Cited by 2 · see citing works

AAV9-Mediated Targeting of Defined Neuronal Populations in Spinal Cord Through Intrathecal Injection

Ageeva, T. V., Shigapova, R. R., Davletshin, E. F., Plotnikova, E., Rizvanov, A. A., & Mukhamedshina, Y. O. (2026) · Frontiers in Bioscience-Elite · doi:10.31083/fbe44274 · Cited by 2 · see citing works

Nitrous oxide enhances MR-guided focused ultrasound delivery of gene therapy to the murine hippocampus

Bhardwaj, D., Youssef, I., Imphean, D., Holmes, S. K., Krishnan, V., Estill, S. J., Diamond, M. I., Chopra, R., Bailey, R. M., & Shah, B. (2025) · Gene Therapy · doi:10.1038/s41434-025-00530-z · Cited by 2 · see citing works

Nitrous Oxide Enhances Focused Ultrasound Mediated Delivery of Viral Gene TherapyPreprint

Shah, B., Bailey, R. M., Youssef, I., Holmes, S. K., Marckx, A. T., Estill-Terpac, S. J., Diamond, M. I., & Chopra, R. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.07.11.451978 · Cited by 2 · see citing works

In vivo selection in non-human primates identifies superior AAV capsids for on-target CSF delivery to spinal cordPreprint

Hanlon, K. S., Cheng, M. L., de la Cruz, D., Patel, N. J., Santoscoy, M. C., Gong, Y., Ng, C., Nguyen, D. M., Nammour, J., Clark, S. W., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.09.13.557506 · Cited by 2 · see citing works

Preclinical Development of a Vectorized Artificial miRNA Gene Therapy for TauopathiesPreprint

Garza, I. T., Snyder, B., Holmes, S. K., Pearce, K. M., Knight, K. L., & Bailey, R. M. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.10.12.681935 · Cited by 2 · see citing works

Gene delivery using viral vectors

Patel, D. H., Talele, D. R., & Talele, C. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-27416-9.00010-1 · Cited by 2 · see citing works

Gene delivery for cerebral neurodegenerative disorders: Current advancements and limitations

Dayma, K., & Upadhyay, A. (2026) · Molecular Therapy · doi:10.1016/j.ymthe.2026.06.030 · Cited by 1 · see citing works

Efficient targeting of human glial progenitor cells in vivo with engineered AAV vectors and glymphatic delivery

Cona, A., Newbold, E. J., Kesmen, D., Snape, R., Danner, J., White, N., Borden, W., Iseson, A., Schanz, S. J., Chandler-Militello, D., et al. (2026) · Nature Biotechnology · doi:10.1038/s41587-026-03185-2 · Cited by 1 · see citing works

Juvenile reinstatement of TCF4 in Pitt-Hopkins syndrome model mice reveals a critical window for genetic interventionPreprint

James, L. M., Friar, C. A., Liang, S., Gao, E. B., Burette, A. C., & Philpot, B. D. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2025.12.23.696277 · Cited by 1 · see citing works

造船業が目指すイノベーション : シナリオプラニングと新たなイノベーションの創出( これからの海洋産業を考える)

児玉, 義., 青山, 和., 松井, 裕., 境澤, 省., & 小磯, 康. (2013) · 咸臨 : 日本船舶海洋工学会誌

Brain Research Special Issue on CMT, Editorial

Burgess, R. W., & Saporta, M. (2022) · Brain Research · doi:10.1016/j.brainres.2022.147891

Health, Environmental Comfort and Wellbeing through the Integration of Natural and Engineering-Design Bioresources: At the Junction of Pharmaco- and Nutriodesign to the Bioindustry of Tomorrow. Part 1. Engineering and Design Resources of the Bioindustry on the Way to Safe Competition with the Resources of Natural Biocenoses and Health-Saving Systems

Suchkov, S. V., Abe, H., Murphy, S. N., Smith, D., Polyakova, V. S., Scherman, D., Glinushkin, A. P., Barach, P. R., Terent'ev, A. O., Tan, M., et al. (2024) · Biology Bulletin Reviews · doi:10.1134/s2079086424600231

Human Health, Environmental Comfort and Well-Being. Part 1. Engineering and Design Resources of the Bioindustry on the Way to Safe Competition with the Resources of Natural Biocenoses and Health-Saving Systems

Suchkov, S. V., Abe, H., Murphy, S. N., Smith, D., Polyakova, V. S., Scherman, D., Glinushkin, A. P., Barach, P. R., Terent'ev, A. O., Tan, M., et al. (2024) · Успехи современной биологии · doi:10.31857/s0042132424030033

The “route cause” of methotrexate-induced brain structure changes in a juvenile mouse model: Comparison of systemic and CNS-targeted chemotherapy

Choi, S. E., Ayoub, T., Lee, G., Wheeler, A. L., Guger, S., Weksberg, R., Ito, S., Schachar, R. J., Hitzler, J. K., & Nieman, B. J. (2025) · NeuroToxicology · doi:10.1016/j.neuro.2025.103363

A CNS-Directed, AAV9 Gene Therapy Restores Expression and Biochemical Function of Guanidinoacetate Methyltransferase in Models of GAMT Deficiency

Binsfeld, R., Webster, T., Tkachyova, I., Tropak, M. B., Mitchell, M., Peretti, T., Schulze, A., & Walia, J. S. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27021035

Juvenile reinstatement of TCF4 in Pitt-Hopkins syndrome model mice reveals a critical window for genetic interventionPreprint

James, L. M., Friar, C. A., Liang, S., Gao, E. B., Burette, A. C., & Philpot, B. D. (2026) · eLife · doi:10.7554/elife.110213

Juvenile reinstatement of TCF4 in Pitt-Hopkins syndrome model mice reveals a critical window for genetic interventionPreprint

James, L. M., Friar, C. A., Liang, S., Gao, E. B., Burette, A. C., & Philpot, B. D. (2026) · eLife · doi:10.7554/elife.110213.1

Preclinical gene therapy using recombinant AAV vectors in mouse models of two human diseases

Günes, Y. Ö. (2022) · theses.fr (ABES) · doi:10.70675/52c9a808z1652z42c4zae82zc812b95f1723

A dose-escalation and safety gene therapy study in a model of CMT4C neuropathy

Georgiou, E., Kagiava, A., Hentschel, A., Sargiannidou, I., Papacharalampous, R., Stavrou, M., Tryfonos, C., Richter, J., Roos, A., & Kleopa, K. A. (2026) · Gene Therapy · doi:10.1038/s41434-026-00616-2

Differential expression of monoclonal antibody in rat brain following systemic and local administration of AAV

Chowdhury, E. A., Meno‐Tetang, G. M. L., Liu, S., Wu, S., Desireddy, N., Jerez, A., Mahmood, L., Rajwade, A., Bulusu, S., Jamier, T., et al. (2026) · Journal of Pharmacokinetics and Pharmacodynamics · doi:10.1007/s10928-026-10050-x

Practical Considerations for Gene and Cell Therapy Delivery in Temporal Lobe Epilepsy and Other Neurological Disorders

Feller, C., Young, S. C., & Gupta, K. (2026) · Human Gene Therapy · doi:10.1177/10430342261488959

Intra-CSF AAV9 and AAVrh10 Administration in Nonhuman Primates: Promising Routes and Vectors for Which Neurological Diseases?

Bey, K., Deniaud, J., Dubreil, L., Joussemet, B., Cristini, J., Ciron, C., Hordeaux, J., Boulc’h, M. L., Marche, K., Maquigneau, M., et al. (2020) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2020.04.001 · Cited by 115 · see citing works

Assessment of AAV9 distribution and transduction in rats after administration through Intrastriatal, Intracisterna magna and Lumbar Intrathecal routes

Chandran, J. S., Chowdhury, E. A., Perkinton, M. S., Jamier, T., Sutton, D., Wu, S., Dobson, C., Shah, D. K., Chessell, I. P., & Meno‐Tetang, G. M. L. (2022) · Gene Therapy · doi:10.1038/s41434-022-00346-1 · Cited by 18 · see citing works

Comparison of AAV9-driven motor neuron transduction following different CNS-directed delivery methods in micePreprint

Mole, A. J., Sander, C. F., Parmar, A., Williams, A. J., Azzouz, M., Hautbergue, G. M., Shaw, P. J., Ferraiuolo, L., & Mead, R. J. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.07.01.662642 · Cited by 1 · see citing works

Robust spinal motor neuron transduction following intrathecal delivery of AAV9 in pigs

Federici, T., Taub, J. S., Baum, G. R., Gray, S. J., Grieger, J. C., Matthews, K. A., Handy, C. R., Passini, M. A., Samulski, R. J., & Boulis, N. M. (2011) · Gene Therapy · doi:10.1038/gt.2011.130 · Cited by 169 · see citing works

rAAV9 vector biodistribution in nonhuman primate brain and spinal cord following lumbar intrathecal infusion

(16021820), E. H., Devidze, N., (23807518), S. N., (23807521), R. H.-A., McAuliffe, S. P., (23807527), A. L., Ashkenas, J., Gray, S. J., & (23807530), F. P. (2026) · Frontiers in Medicine · doi:10.3389/fmed.2026.1819594