{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T15:54:24Z","timestamp":1789055664037,"version":"build-2803163510"},"reference-count":218,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T00:00:00Z","timestamp":1776124800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cell Dev. Biol."],"abstract":"<jats:p>The field of gene therapy for neuromuscular dystrophies has evolved over the past two decades. Despite some outstanding positive outcomes, some unfortunate adverse effects also led to big setbacks. One important key point is to study relevant preclinical models and to embrace diverse strategies to mitigate or avoid such negative outcomes. Although at first, for some diseases, the promise of a one-treatment-for-all approach was envisioned, it has recently become clear that a personalized approach will likely be preferable given the high variability in response between individuals.<\/jats:p>","DOI":"10.3389\/fcell.2026.1765367","type":"journal-article","created":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T05:40:04Z","timestamp":1776145204000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Bridging science and hope: the evolving story of gene therapy for neuromuscular diseases"],"prefix":"10.3389","volume":"14","author":[{"given":"Nicolas","family":"Wein","sequence":"first","affiliation":[{"name":"Nantes Universit\u00e9, CHU de Nantes, INSERM, TaRGeT - Translational Research in Gene Therapy, UMR 1089","place":["Nantes, France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Barth\u00e9l\u00e9my","sequence":"additional","affiliation":[{"name":"Center for Duchenne Muscular Dystrophy at UCLA","place":["Los Angeles, CA, United States"]},{"name":"Department of Microbiology, Immunology and Molecular Genetics, David Geffen School of Medicine, College of Letters and Sciences, University of California, Los Angeles","place":["Los Angeles, CA, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,4,14]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1089\/nat.2017.0665","article-title":"FDA approval of nusinersen for spinal muscular atrophy makes 2016 the year of splice modulating oligonucleotides","volume":"27","author":"Aartsma-Rus","year":"2017","journal-title":"Nucleic Acid. Ther."},{"key":"B2","doi-asserted-by":"publisher","first-page":"1514898","DOI":"10.3389\/fcell.2024.1514898","article-title":"Histone deacetylase inhibition with givinostat: a multi-targeted mode of action with the potential to halt the pathological cascade of Duchenne muscular dystrophy","volume":"12","author":"Aartsma-Rus","year":"2024","journal-title":"Front. Cell Dev. Biol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1089\/nat.2016.0657","article-title":"FDA approves eteplirsen for Duchenne muscular dystrophy: the next chapter in the eteplirsen Saga","volume":"27","author":"Aartsma-Rus","year":"2017","journal-title":"Nucleic Acid. Ther."},{"key":"B4","doi-asserted-by":"publisher","first-page":"2637","DOI":"10.1093\/hmg\/ddg280","article-title":"Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference","volume":"12","author":"Abdelgany","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"B5","doi-asserted-by":"publisher","first-page":"S120","DOI":"10.1016\/j.nmd.2023.07.219","article-title":"P309 EPI-321: a promising gene therapy for facioscapulohumeral muscular dystrophy (FSHD) targeting D4Z4 epigenome","volume":"33","author":"Adhikari","year":"2023","journal-title":"Neuromuscul. Disord."},{"key":"B6","doi-asserted-by":"publisher","first-page":"11587","DOI":"10.1093\/nar\/gkae798","article-title":"Chem-CRISPR\/dCas9FCPF: a platform for chemically induced epigenome editing","volume":"52","author":"Altinbay","year":"2024","journal-title":"Nucleic Acids Res."},{"key":"B7","doi-asserted-by":"publisher","first-page":"eaan8081","DOI":"10.1126\/scitranslmed.aan8081","article-title":"Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy","volume":"9","author":"Amoasii","year":"2017","journal-title":"Sci. Transl. Med."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1526","DOI":"10.1038\/s41587-023-02078-y","article-title":"Engineered virus-like particles for transient delivery of prime editor ribonucleoprotein complexes in vivo","volume":"42","author":"An","year":"2024","journal-title":"Nat. Biotechnol."},{"key":"B9","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1038\/s41586-019-1711-4","article-title":"Search-and-replace genome editing without double-strand breaks or donor DNA","volume":"576","author":"Anzalone","year":"2019","journal-title":"Nature"},{"key":"B10","doi-asserted-by":"publisher","first-page":"eadg6518","DOI":"10.1126\/science.adg6518","article-title":"Base editing rescue of spinal muscular atrophy in cells and in mice","volume":"380","author":"Arbab","year":"2023","journal-title":"Science."},{"key":"B11","volume-title":"Managed access program (MAP) for investigational therapy del-zota in DMD44","author":"Avidity Biosciences Announces","year":"2025"},{"key":"B12","doi-asserted-by":"publisher","first-page":"406","DOI":"10.20517\/jtgg.2025.108","article-title":"Translational insights into Duchenne muscular dystrophy: network biomarker identification and drug repositioning through multi-omics approaches","volume":"9","author":"Aydin","year":"2025","journal-title":"J. Transl. Genet. Genomics"},{"key":"B13","doi-asserted-by":"publisher","first-page":"1246","DOI":"10.3390\/biom11081246","article-title":"Circulating biomarkers in neuromuscular disorders: what is known, what is new","volume":"11","author":"Barp","year":"2021","journal-title":"Biomolecules"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1371\/currents.md.f1e2379fa632f8135577333dd92ca83b","article-title":"Epigenetic regulators modulate muscle damage in Duchenne muscular dystrophy model","volume":"9","author":"Bajanca","year":"2017","journal-title":"PLoS Curr."},{"key":"B15","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1177\/22143602241313113","article-title":"A state-of-the-art review of registries in spinal muscular atrophy: a valuable resource for clinical research","volume":"12","author":"Balaji","year":"2025","journal-title":"J. Neuromuscul. Dis."},{"key":"B16","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1016\/j.cell.2021.12.021","article-title":"Engineered virus-like particles for efficient in vivo delivery of therapeutic proteins","volume":"185","author":"Banskota","year":"2022","journal-title":"Cell"},{"key":"B17","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1016\/j.nmd.2018.06.009","article-title":"Personalized gene and cell therapy for Duchenne muscular dystrophy","volume":"28","author":"Barthelemy","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"B18","doi-asserted-by":"publisher","first-page":"1329048","DOI":"10.3389\/fcell.2023.1329048","article-title":"Editorial: personalized medicine for neuromuscular disorders","volume":"11","author":"Bartoli","year":"2023","journal-title":"Front. Cell Dev. Biol."},{"key":"B19","doi-asserted-by":"publisher","first-page":"1034","DOI":"10.1089\/hum.2020.259","article-title":"The platform vector gene therapies project: increasing the efficiency of adeno-associated virus gene therapy clinical trial startup","volume":"31","author":"Brooks","year":"2020","journal-title":"Hum. Gene Ther."},{"key":"B20","doi-asserted-by":"publisher","first-page":"e3331","DOI":"10.1002\/brb3.3331","article-title":"Natural history of Duchenne muscular dystrophy in the United Kingdom: a descriptive study using the clinical practice research datalink","volume":"13","author":"Broomfield","year":"2023","journal-title":"Brain Behav."},{"key":"B21","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1007\/s41669-023-00450-x","article-title":"Developing a natural history model for Duchenne muscular dystrophy","volume":"8","author":"Broomfield","year":"2024","journal-title":"Pharmacoecon Open"},{"key":"B22","doi-asserted-by":"publisher","first-page":"e16","DOI":"10.1017\/erm.2025.10","article-title":"Advancing CRISPR genome editing into gene therapy clinical trials: progress and future prospects","volume":"27","author":"Cetin","year":"2025","journal-title":"Expert Rev. Mol. Med."},{"key":"B24","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1016\/j.omtn.2023.04.009","article-title":"Single-swap editing for the correction of common Duchenne muscular dystrophy mutations","volume":"32","author":"Chai","year":"2023","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"B25","doi-asserted-by":"publisher","first-page":"eabg4910","DOI":"10.1126\/sciadv.abg4910","article-title":"Precise correction of Duchenne muscular dystrophy exon deletion mutations by base and prime editing","volume":"7","author":"Chemello","year":"2021","journal-title":"Sci. Adv."},{"key":"B26","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1038\/s41576-022-00541-1","article-title":"Prime editing for precise and highly versatile genome manipulation","volume":"24","author":"Chen","year":"2023","journal-title":"Nat. Rev. Genet."},{"key":"B27","doi-asserted-by":"publisher","first-page":"3764","DOI":"10.1093\/hmg\/ddv120","article-title":"Functional disruption of the dystrophin gene in rhesus monkey using CRISPR\/Cas9","volume":"24","author":"Chen","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"B28","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1089\/genbio.2023.0045","article-title":"In vivo prime editing by lipid nanoparticle Co-delivery of chemically modified pegRNA and prime editor mRNA","volume":"2","author":"Chen","year":"2023","journal-title":"Gen. Biotechnol."},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1038\/s41434-025-00561-6","article-title":"AAV microdystrophin gene replacement therapy for Duchenne muscular dystrophy: progress and prospects","author":"Chwalenia","year":"2025","journal-title":"Gene Ther"},{"key":"B30","unstructured":"California neurodegenerative disease registry\n          \n          \n          2026"},{"key":"B32","doi-asserted-by":"publisher","first-page":"e1777","DOI":"10.1002\/wnan.1777","article-title":"Nanomedicine, a valuable tool for skeletal muscle disorders: challenges, promises, and limitations","volume":"14","author":"Colapicchioni","year":"2022","journal-title":"Wiley Interdiscip. Rev. Nanomed Nanobiotechnol"},{"key":"B34","doi-asserted-by":"publisher","first-page":"457","DOI":"10.2119\/molmed.2011.00049","article-title":"Histone deacetylase inhibitors in the treatment of muscular dystrophies: epigenetic drugs for genetic diseases","volume":"17","author":"Consalvi","year":"2011","journal-title":"Mol. Med."},{"key":"B35","doi-asserted-by":"publisher","first-page":"fcaf046","DOI":"10.1093\/braincomms\/fcaf046","article-title":"Dose escalation pre-clinical trial of novel DOK7-AAV in mouse model of DOK7 congenital myasthenia","volume":"7","author":"Cossins","year":"2025","journal-title":"Brain Commun."},{"key":"B36","doi-asserted-by":"publisher","first-page":"4072","DOI":"10.1038\/s41467-023-39632-w","article-title":"Cell cycle arrest and p53 prevent ON-target megabase-scale rearrangements induced by CRISPR-Cas9","volume":"14","author":"Cullot","year":"2023","journal-title":"Nat. Commun."},{"key":"B37","doi-asserted-by":"publisher","first-page":"1669","DOI":"10.1007\/s13311-023-01423-y","article-title":"Evolving therapeutic options for the treatment of Duchenne muscular dystrophy","volume":"20","author":"D\u2019Ambrosio","year":"2023","journal-title":"Neurotherapeutics"},{"key":"B38","doi-asserted-by":"publisher","first-page":"117691","DOI":"10.1016\/j.cca.2023.117691","article-title":"Neuromuscular disorders in the omics era","volume":"553","author":"Dabaj","year":"2024","journal-title":"Clin. Chim. Acta."},{"key":"B39","doi-asserted-by":"publisher","first-page":"12598","DOI":"10.1038\/s41598-021-92096-0","article-title":"CRISPR mediated targeting of DUX4 distal regulatory element represses DUX4 target genes dysregulated in facioscapulohumeral muscular dystrophy","volume":"11","author":"Das","year":"2021","journal-title":"Sci. Rep."},{"key":"B40","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1055\/a-2463-3385","article-title":"Advances in disease-modifying therapeutics for chronic neuromuscular disorders","volume":"46","author":"Davalos","year":"2025","journal-title":"Semin. Respir. Crit. Care Med."},{"key":"B41","doi-asserted-by":"publisher","first-page":"950651","DOI":"10.3389\/fphar.2022.950651","article-title":"Drug development progress in Duchenne muscular dystrophy","volume":"13","author":"Deng","year":"2022","journal-title":"Front. Pharmacol."},{"key":"B42","doi-asserted-by":"publisher","first-page":"S101","DOI":"10.1016\/j.nmd.2022.07.247","article-title":"P.131 building a FORCETM platform-based DMD franchise for the treatment of individuals with mutations amenable to exon skipping","volume":"32","author":"Desjardins","year":"2022","journal-title":"Neuromuscul. Disord."},{"key":"B43","doi-asserted-by":"publisher","first-page":"213","DOI":"10.2147\/BTT.S508221","article-title":"Targeted therapy for skeletal muscle fibrosis: regulation of myostatin, TGF-beta, MMP, and TIMP to maintain extracellular matrix homeostasis","volume":"19","author":"Dewi","year":"2025","journal-title":"Biologics"},{"key":"B44","doi-asserted-by":"publisher","first-page":"1027","DOI":"10.1007\/s40265-020-01339-3","article-title":"Viltolarsen: first approval","volume":"80","author":"Dhillon","year":"2020","journal-title":"Drugs"},{"key":"B45","doi-asserted-by":"publisher","first-page":"3879","DOI":"10.3324\/haematol.2023.284622","article-title":"Next-generation strategies to improve safety and efficacy of adeno-associated virus-based gene therapy for hemophilia: lessons from clinical trials in other gene therapies","volume":"109","author":"Di Minno","year":"2024","journal-title":"Haematologica"},{"key":"B46","doi-asserted-by":"publisher","first-page":"12575","DOI":"10.1038\/s41598-017-12981-5","article-title":"Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy","volume":"7","author":"Doorenweerd","year":"2017","journal-title":"Sci. Rep."},{"key":"B47","doi-asserted-by":"publisher","first-page":"2337","DOI":"10.1016\/j.ymthe.2018.07.011","article-title":"Systemic AAV micro-dystrophin gene therapy for Duchenne muscular dystrophy","volume":"26","author":"Duan","year":"2018","journal-title":"Mol. Ther."},{"key":"B48","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1016\/j.omtm.2022.11.003","article-title":"Assessing production variability in empty and filled adeno-associated viruses by single molecule mass analyses","volume":"27","author":"Ebberink","year":"2022","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"B49","doi-asserted-by":"publisher","first-page":"6602","DOI":"10.1038\/s41467-024-50555-y","article-title":"Systematic multi-trait AAV capsid engineering for efficient gene delivery","volume":"15","author":"Eid","year":"2024","journal-title":"Nat. Commun."},{"key":"B50","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1016\/j.omtm.2023.06.002","article-title":"Innate and adaptive AAV-mediated immune responses in a mouse model of Duchenne muscular dystrophy","volume":"30","author":"Emami","year":"2023","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"B51","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1038\/343180a0","article-title":"Very mild muscular dystrophy associated with the deletion of 46% of dystrophin","volume":"343","author":"England","year":"1990","journal-title":"Nature"},{"key":"B52","doi-asserted-by":"publisher","first-page":"e145994","DOI":"10.1172\/jci.insight.145994","article-title":"Base editing repairs an SGCA mutation in human primary muscle stem cells","volume":"6","author":"Escobar","year":"2021","journal-title":"JCI Insight"},{"key":"B53","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1038\/s41467-024-55086-0","article-title":"Gene-editing in patient and humanized-mice primary muscle stem cells rescues dysferlin expression in dysferlin-deficient muscular dystrophy","volume":"16","author":"Escobar","year":"2025","journal-title":"Nat. Commun."},{"key":"B54","doi-asserted-by":"publisher","first-page":"1021","DOI":"10.1007\/s40273-021-01050-5","article-title":"Implementing outcomes-based managed entry agreements for rare disease treatments: Nusinersen and tisagenlecleucel","volume":"39","author":"Facey","year":"2021","journal-title":"Pharmacoeconomics"},{"key":"B55","doi-asserted-by":"publisher","first-page":"e65202","DOI":"10.7554\/eLife.65202","article-title":"An optimized CRISPR\/Cas9 approach for precise genome editing in neurons","volume":"10","author":"Fang","year":"2021","journal-title":"Elife"},{"key":"B56","volume-title":"FDA approves gene therapy for treatment of spinal muscular atrophy","year":"2025"},{"key":"B219","volume-title":"Long term follow-up after administration of Human gene","year":"2020"},{"key":"B218","volume-title":"Platform technology designation program for drug development","year":"2024"},{"key":"B33","article-title":"FDA requests sarepta therapeutics suspend distribution of elevidys and places clinical trials on hold for multiple gene therapy products following 3 deaths","year":"2025"},{"key":"B57","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus sham control in infantile-onset spinal muscular atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"B58","doi-asserted-by":"publisher","first-page":"101571","DOI":"10.1016\/j.omtm.2025.101571","article-title":"Directed evolution of liver-detargeted AAV vectors for systemic gene delivery to skeletal muscle and heart","volume":"33","author":"Firnberg","year":"2025","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"B59","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1038\/s41591-021-01664-4","article-title":"AAV gene therapy for tay-sachs disease","volume":"28","author":"Flotte","year":"2022","journal-title":"Nat. Med."},{"key":"B60","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1136\/pn-2023-003708","article-title":"First-line immunosuppression in neuromuscular diseases","volume":"23","author":"Foster","year":"2023","journal-title":"Pract. Neurol."},{"key":"B61","doi-asserted-by":"publisher","first-page":"822","DOI":"10.1038\/nbt.2623","article-title":"High-frequency off-target mutagenesis induced by CRISPR-cas nucleases in human cells","volume":"31","author":"Fu","year":"2013","journal-title":"Nat. Biotechnol."},{"key":"B62","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1038\/nbt.2808","article-title":"Improving CRISPR-cas nuclease specificity using truncated guide RNAs","volume":"32","author":"Fu","year":"2014","journal-title":"Nat. Biotechnol."},{"key":"B63","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1093\/hmg\/ddac236","article-title":"Tissue- and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced isoforms","volume":"32","author":"Garcia-Cruz","year":"2023","journal-title":"Hum. Mol. Genet."},{"key":"B64","doi-asserted-by":"publisher","first-page":"1801","DOI":"10.1093\/hmg\/ddg196","article-title":"Morpholino antisense oligonucleotide induced dystrophin exon 23 skipping in mdx mouse muscle","volume":"12","author":"Gebski","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"B65","doi-asserted-by":"publisher","first-page":"186","DOI":"10.3390\/biology12020186","article-title":"AAV engineering for improving tropism to the central nervous system","volume":"12","author":"Ghauri","year":"2023","journal-title":"Biol. (Basel)."},{"key":"B66","doi-asserted-by":"publisher","first-page":"1952","DOI":"10.1093\/hmg\/ddx066","article-title":"AAV-Mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression","volume":"26","author":"Gicquel","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"B67","volume-title":"Registries for evaluating patient outcomes: a user's guide. AHRQ methods for effective health care","author":"Gliklich Nad","year":"2014"},{"key":"B68","doi-asserted-by":"publisher","first-page":"101144","DOI":"10.1016\/j.omtm.2023.101144","article-title":"Persistence of exon 2 skipping and dystrophin expression at 18 months after U7snRNA-mediated therapy in the Dup2 mouse model","volume":"31","author":"Gushchina","year":"2023","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"B69","doi-asserted-by":"publisher","first-page":"9727","DOI":"10.1038\/s41467-025-64748-6","article-title":"Effective in vivo RNA base editing via engineered cytidine deaminase APOBECs fused with PUF proteins","volume":"16","author":"Han","year":"2025","journal-title":"Nat. Commun."},{"key":"B70","doi-asserted-by":"publisher","first-page":"1128557","DOI":"10.3389\/fmed.2023.1128557","article-title":"Prime editing strategies to mediate exon skipping in DMD gene","volume":"10","author":"Happi Mbakam","year":"2023","journal-title":"Front. Med. (Lausanne)"},{"key":"B71","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1016\/j.tibtech.2024.09.004","article-title":"Extended pegRNAs enhance the editing capability of prime editing","volume":"43","author":"He","year":"2025","journal-title":"Trends Biotechnol."},{"key":"B72","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1007\/s40265-020-01267-2","article-title":"Golodirsen: first approval","volume":"80","author":"Heo","year":"2020","journal-title":"Drugs"},{"key":"B73","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1038\/s41551-024-01296-2","article-title":"Safer and efficient base editing and prime editing via ribonucleoproteins delivered through optimized lipid-nanoparticle formulations","volume":"9","author":"Holubowicz","year":"2025","journal-title":"Nat. Biomed. Eng."},{"key":"B74","doi-asserted-by":"publisher","first-page":"1255","DOI":"10.1007\/s40265-019-01162-5","article-title":"Onasemnogene abeparvovec: first global approval","volume":"79","author":"Hoy","year":"2019","journal-title":"Drugs"},{"key":"B75","doi-asserted-by":"publisher","first-page":"1323","DOI":"10.1007\/s40265-023-01929-x","article-title":"Delandistrogene moxeparvovec: first approval","volume":"83","author":"Hoy","year":"2023","journal-title":"Drugs"},{"key":"B76","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1016\/j.actbio.2020.10.009","article-title":"Polymeric nanoparticles functionalized with muscle-homing peptides for targeted delivery of phosphatase and tensin homolog inhibitor to skeletal muscle","volume":"118","author":"Huang","year":"2020","journal-title":"Acta Biomater."},{"key":"B77","doi-asserted-by":"publisher","first-page":"816","DOI":"10.1126\/science.1225829","article-title":"A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity","volume":"337","author":"Jinek","year":"2012","journal-title":"Science"},{"key":"B78","doi-asserted-by":"publisher","first-page":"106045","DOI":"10.1016\/j.ebiom.2025.106045","article-title":"Facing the challenge of effective dosing, safety, and timing of intrathecal gene therapy for neurological disorders","volume":"123","author":"Kagiava","year":"2025","journal-title":"EBioMedicine"},{"key":"B79","doi-asserted-by":"publisher","first-page":"898","DOI":"10.3389\/fneur.2019.00898","article-title":"Biomarkers and the development of a personalized medicine approach in spinal muscular atrophy","volume":"10","author":"Kariyawasam","year":"2019","journal-title":"Front. Neurol."},{"key":"B80","doi-asserted-by":"publisher","first-page":"1188037","DOI":"10.3389\/fneur.2023.1188037","article-title":"Editorial: diagnosis of neuromuscular disorders in the era of personalized genomic medicine","volume":"14","author":"Kazamel","year":"2023","journal-title":"Front. Neurol."},{"key":"B81","doi-asserted-by":"publisher","first-page":"7101","DOI":"10.1038\/s41467-021-26714-w","article-title":"Low immunogenicity of LNP allows repeated administrations of CRISPR-Cas9 mRNA into skeletal muscle in mice","volume":"12","author":"Kenjo","year":"2021","journal-title":"Nat. Commun."},{"key":"B82","doi-asserted-by":"publisher","first-page":"1176","DOI":"10.1111\/cts.12977","article-title":"Gene therapy for diabetic peripheral neuropathy: a randomized, placebo-controlled phase III study of VM202, a plasmid DNA encoding human hepatocyte growth factor","volume":"14","author":"Kessler","year":"2021","journal-title":"Clin. Transl. Sci."},{"key":"B83","doi-asserted-by":"publisher","first-page":"102640","DOI":"10.1016\/j.omtn.2025.102640","article-title":"Controlling CRISPR-Cas9 genome editing in human cells using a molecular glue degrader","volume":"36","author":"Khajanchi","year":"2025","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"B84","doi-asserted-by":"publisher","first-page":"22657","DOI":"10.1021\/acsomega.4c10900","article-title":"Improving AAV production yield and quality for different serotypes using distinct processing methods","volume":"10","author":"Khaparde","year":"2025","journal-title":"ACS Omega"},{"key":"B85","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1101\/gr.171322.113","article-title":"Highly efficient RNA-guided genome editing in human cells via delivery of purified Cas9 ribonucleoproteins","volume":"24","author":"Kim","year":"2014","journal-title":"Genome Res."},{"key":"B86","doi-asserted-by":"publisher","first-page":"1198","DOI":"10.1096\/fj.15-271809","article-title":"Combination of small RNAs for skeletal muscle regeneration","volume":"30","author":"Kim","year":"2016","journal-title":"FASEB J."},{"key":"B87","doi-asserted-by":"publisher","first-page":"10576","DOI":"10.1093\/nar\/gkaa764","article-title":"Unbiased investigation of specificities of prime editing systems in human cells","volume":"48","author":"Kim","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"B88","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1038\/s41434-023-00423-z","article-title":"Prednisolone and rapamycin reduce the plasma cell gene signature and may improve AAV gene therapy in cynomolgus macaques","volume":"31","author":"Kistner","year":"2024","journal-title":"Gene Ther."},{"key":"B89","doi-asserted-by":"publisher","first-page":"e1607","DOI":"10.1002\/ctm2.1607","article-title":"Optimization strategies and advances in the research and development of AAV-based gene therapy to deliver large transgenes","volume":"14","author":"Kolesnik","year":"2024","journal-title":"Clin. Transl. Med."},{"key":"B90","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1038\/nature17946","article-title":"Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage","volume":"533","author":"Komor","year":"2016","journal-title":"Nature"},{"key":"B91","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1038\/nbt.4192","article-title":"Repair of double-strand breaks induced by CRISPR-Cas9 leads to large deletions and complex rearrangements","volume":"36","author":"Kosicki","year":"2018","journal-title":"Nat. Biotechnol."},{"key":"B92","doi-asserted-by":"publisher","first-page":"3422","DOI":"10.1038\/s41467-022-30480-8","article-title":"Cas9-induced large deletions and small indels are controlled in a convergent fashion","volume":"13","author":"Kosicki","year":"2022","journal-title":"Nat. Commun."},{"key":"B93","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1515\/medgen-2025-2025","article-title":"Antisense oligonucleotide therapies for monogenic disorders","volume":"37","author":"Krey-Grauert","year":"2025","journal-title":"Med. Genet."},{"key":"B94","doi-asserted-by":"publisher","first-page":"849","DOI":"10.1007\/s40265-024-02052-1","article-title":"Givinostat: first approval","volume":"84","author":"Lamb","year":"2024","journal-title":"Drugs"},{"key":"B95","doi-asserted-by":"publisher","first-page":"675","DOI":"10.3233\/JND-221540","article-title":"Gene therapy for neuromuscular diseases: health economic challenges and future perspectives","volume":"9","author":"Landfeldt","year":"2022","journal-title":"J. Neuromuscul. Dis."},{"key":"B96","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1212\/WNL.0000000000000669","article-title":"The burden of Duchenne muscular dystrophy: an international, cross-sectional study","volume":"83","author":"Landfeldt","year":"2014","journal-title":"Neurology"},{"key":"B97","doi-asserted-by":"publisher","DOI":"10.1038\/s41587-025-02948-7","article-title":"Sensitive and unbiased genome-wide profiling of base-editor-induced off-target activity using CHANGE-seq-BE","author":"Lazzarotto","year":"2026","journal-title":"Nat. Biotechnol"},{"key":"B98","doi-asserted-by":"publisher","DOI":"10.1101\/2025.09.02.671676","article-title":"High-fidelity CRISPR genome editing of single-nucleotide mutation with near-complementary guide RNA via enhanced target binding kinetics","author":"Lee","year":"2025","journal-title":"bioRxiv"},{"key":"B99","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1038\/s41588-021-00838-7","article-title":"Chromothripsis as an on-target consequence of CRISPR-Cas9 genome editing","volume":"53","author":"Leibowitz","year":"2021","journal-title":"Nat. Genet."},{"key":"B100","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/j.stemcr.2014.10.013","article-title":"Precise correction of the dystrophin gene in Duchenne muscular dystrophy patient induced pluripotent stem cells by TALEN and CRISPR-Cas9","volume":"4","author":"Li","year":"2015","journal-title":"Stem Cell Rep."},{"key":"B101","doi-asserted-by":"publisher","first-page":"991832","DOI":"10.3389\/fimmu.2022.991832","article-title":"A versatile toolkit for overcoming AAV immunity","volume":"13","author":"Li","year":"2022","journal-title":"Front. Immunol."},{"key":"B102","doi-asserted-by":"publisher","first-page":"e13691","DOI":"10.1002\/jcsm.13691","article-title":"Targeting drug delivery system to skeletal muscles: a comprehensive review of different approaches","volume":"16","author":"Li","year":"2025","journal-title":"J. Cachexia Sarcopenia Muscle"},{"key":"B103","doi-asserted-by":"publisher","first-page":"5927","DOI":"10.1038\/s41467-024-50340-x","article-title":"Adenine base editing-mediated exon skipping restores dystrophin in humanized Duchenne mouse model","volume":"15","author":"Lin","year":"2024","journal-title":"Nat. Commun."},{"key":"B104","doi-asserted-by":"publisher","first-page":"906","DOI":"10.1016\/j.nmd.2012.06.338","article-title":"T.O.1 RNAi therapy for LGMD1A","volume":"22","author":"Liu","year":"2012","journal-title":"Neuromuscul. Disord."},{"key":"B105","doi-asserted-by":"publisher","first-page":"1261","DOI":"10.1038\/s42256-023-00739-w","article-title":"Design of prime-editing guide RNAs with deep transfer learning","volume":"5","author":"Liu","year":"2023","journal-title":"Nat. Mach. Intell."},{"key":"B106","doi-asserted-by":"publisher","first-page":"11217","DOI":"10.1038\/s41467-025-66061-8","article-title":"Transcytotic transportation of size-controlled nanocarriers into dystrophic skeletal muscle leads to therapeutic outcome in mice","volume":"16","author":"Liu","year":"2025","journal-title":"Nat. Commun."},{"key":"B107","doi-asserted-by":"publisher","first-page":"1184","DOI":"10.1126\/science.1254445","article-title":"Prevention of muscular dystrophy in mice by CRISPR\/Cas9-mediated editing of germline DNA","volume":"345","author":"Long","year":"2014","journal-title":"Science"},{"key":"B108","doi-asserted-by":"publisher","first-page":"eaap9004","DOI":"10.1126\/sciadv.aap9004","article-title":"Correction of diverse muscular dystrophy mutations in human engineered heart muscle by single-site genome editing","volume":"4","author":"Long","year":"2018","journal-title":"Sci. Adv."},{"key":"B109","doi-asserted-by":"publisher","first-page":"e22045","DOI":"10.1096\/fj.202100123R","article-title":"A split cytosine deaminase architecture enables robust inducible base editing","volume":"35","author":"Long","year":"2021","journal-title":"FASEB J."},{"key":"B110","doi-asserted-by":"publisher","first-page":"102683","DOI":"10.1016\/j.omtn.2025.102683","article-title":"Epigenetic small molecule screening identifies a new HDACi compound for ameliorating Duchenne muscular dystrophy","volume":"36","author":"Louie","year":"2025","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"B111","doi-asserted-by":"publisher","first-page":"2517","DOI":"10.1016\/j.ymthe.2024.12.051","article-title":"Heterogeneity, a weak link between constrained AAV dose and long-term efficacy of gene therapy to muscular dystrophy: a critical and prospective review","volume":"33","author":"Lu","year":"2025","journal-title":"Mol. Ther."},{"key":"B112","doi-asserted-by":"publisher","first-page":"1557","DOI":"10.1111\/j.1471-4159.2009.06084.x","article-title":"The emerging role of epigenetic modifications and chromatin remodeling in spinal muscular atrophy","volume":"109","author":"Lunke","year":"2009","journal-title":"J. Neurochem."},{"key":"B113","doi-asserted-by":"publisher","first-page":"1381","DOI":"10.1186\/s12967-025-07066-1","article-title":"A review of recent studies on CRISPR\/Cas9-mediated genome editing in a variety of muscle-related genetic disorders","volume":"23","author":"Lyu","year":"2025","journal-title":"J. Transl. Med."},{"key":"B114","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1515\/medgen-2025-2024","article-title":"A clinician\u2019s guide to AAV production - how manufacturing platforms shape vector properties","volume":"37","author":"Magnus","year":"2025","journal-title":"Med. Genet."},{"key":"B115","doi-asserted-by":"publisher","first-page":"e13228","DOI":"10.15252\/emmm.202013228","article-title":"Targeted genome editing in vivo corrects a Dmd duplication restoring wild-type dystrophin expression","volume":"13","author":"Maino","year":"2021","journal-title":"EMBO Mol. Med."},{"key":"B116","doi-asserted-by":"publisher","first-page":"814174","DOI":"10.3389\/fneur.2021.814174","article-title":"Adeno-associated virus (AAV)-mediated gene therapy for Duchenne muscular dystrophy: the issue of transgene persistence","volume":"12","author":"Manini","year":"2021","journal-title":"Front. Neurol."},{"key":"B117","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1186\/s13023-022-02182-3","article-title":"Patients\u2019 access to rare neuromuscular disease therapies varies across US private insurers","volume":"17","author":"Margaretos","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"B118","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/s41434-024-00444-2","article-title":"Analytical characterization of full, intermediate, and empty AAV capsids","volume":"31","author":"McColl-Carboni","year":"2024","journal-title":"Gene Ther."},{"key":"B119","doi-asserted-by":"publisher","first-page":"9227","DOI":"10.3390\/ijms25179227","article-title":"Navigating the landscape of CMT1B: understanding genetic pathways, disease models, and potential therapeutic approaches","volume":"25","author":"McCulloch","year":"2024","journal-title":"Int. J. Mol. Sci."},{"key":"B120","doi-asserted-by":"publisher","first-page":"1414658","DOI":"10.3389\/fnins.2024.1414658","article-title":"Antisense oligonucleotides and their applications in rare neurological diseases","volume":"18","author":"McDowall","year":"2024","journal-title":"Front. Neurosci."},{"key":"B121","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1002\/ana.22251","article-title":"Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D","volume":"68","author":"Mendell","year":"2010","journal-title":"Ann. Neurol."},{"key":"B122","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-dose gene-replacement therapy for spinal muscular atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"B123","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1038\/s41591-023-02730-9","article-title":"Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E\/R4: phase 1\/2 trial results","volume":"30","author":"Mendell","year":"","journal-title":"Nat. Med."},{"key":"B124","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1016\/j.pediatrneurol.2024.01.003","article-title":"Practical considerations for delandistrogene moxeparvovec gene therapy in patients with Duchenne muscular dystrophy","volume":"153","author":"Mendell","year":"","journal-title":"Pediatr. Neurol."},{"key":"B125","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1038\/s41591-024-03304-z","article-title":"AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial","volume":"31","author":"Mendell","year":"2025","journal-title":"Nat. Med."},{"key":"B126","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1590\/0004-282X-ANP-2022-S135","article-title":"Gene therapy in neuromuscular disorders","volume":"80","author":"Mendonca","year":"2022","journal-title":"Arq. Neuropsiquiatr."},{"key":"B127","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1016\/S1474-4422(24)00036-X","article-title":"Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial","volume":"23","author":"Mercuri","year":"2024","journal-title":"Lancet Neurol."},{"key":"B128","doi-asserted-by":"publisher","first-page":"eaav4324","DOI":"10.1126\/sciadv.aav4324","article-title":"CRISPR-Cas9 corrects Duchenne muscular dystrophy exon 44 deletion mutations in mice and human cells","volume":"5","author":"Min","year":"2019","journal-title":"Sci. Adv."},{"key":"B129","doi-asserted-by":"publisher","first-page":"S317","DOI":"10.3233\/JND-210683","article-title":"Changes in myonuclear number during postnatal growth - implications for AAV gene therapy for muscular dystrophy","volume":"8","author":"Morgan","year":"2021","journal-title":"J. Neuromuscul. Dis."},{"key":"B217","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ymthe.2024.04.020","article-title":"Breaking ground in CMT1B treatment: AAV9-Mediated dual RNAi and gene replacementtherapy targeting schwann cells improves myelination and peripheral nerve function in mice.ASGCT 27th annual meeting abstracts","volume":"32","author":"Munezero","year":"2024","journal-title":"Mol. Ther."},{"key":"B130","doi-asserted-by":"publisher","first-page":"1251885","DOI":"10.3389\/fneur.2023.1251885","article-title":"Clinical trials in charcot-marie-tooth disorders: a retrospective and preclinical assessment","volume":"14","author":"Nair","year":"2023","journal-title":"Front. Neurol."},{"key":"B131","doi-asserted-by":"publisher","first-page":"21953","DOI":"10.1038\/s41598-023-42174-2","article-title":"Efficient gene editing in induced pluripotent stem cells enabled by an inducible adenine base editor with tunable expression","volume":"13","author":"Nandy","year":"2023","journal-title":"Sci. Rep."},{"key":"B132","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1016\/j.jval.2018.03.004","article-title":"Challenges in research and health technology assessment of rare disease technologies: report of the ISPOR rare disease special interest group","volume":"21","author":"Nestler-Parr","year":"2018","journal-title":"Value Health"},{"key":"B133","doi-asserted-by":"publisher","first-page":"997551","DOI":"10.3389\/fneur.2022.997551","article-title":"Using gene panels in the diagnosis of neuromuscular disorders: a mini-review","volume":"13","author":"Ng","year":"2022","journal-title":"Front. Neurol."},{"key":"B134","doi-asserted-by":"publisher","first-page":"3650","DOI":"10.1212\/wnl.0000000000211144","article-title":"Correction of Duchenne muscular dystrophy mutations by CRISPR\/Cas9 gene editing using homology-independent targeted integration (P7-6.006)","volume":"104","author":"Nicolau","year":"2025","journal-title":"Neurology"},{"key":"B135","doi-asserted-by":"publisher","first-page":"1937","DOI":"10.1016\/j.ymthe.2025.03.056","article-title":"Advances in AAV capsid engineering: integrating rational design, directed evolution and machine learning","volume":"33","author":"Nisanov","year":"2025","journal-title":"Mol. Ther."},{"key":"B136","doi-asserted-by":"publisher","first-page":"1797","DOI":"10.1038\/mt.2016.152","article-title":"Somatic therapy of a mouse SMA model with a U7 snRNA gene correcting SMN2 splicing","volume":"24","author":"Odermatt","year":"2016","journal-title":"Mol. Ther."},{"key":"B137","doi-asserted-by":"publisher","first-page":"2898","DOI":"10.3390\/ijms23052898","article-title":"Generation of a dystrophin mutant in dog by nuclear transfer using CRISPR\/Cas9-Mediated somatic cells: a preliminary study","volume":"23","author":"Oh","year":"2022","journal-title":"Int. J. Mol. Sci."},{"key":"B138","doi-asserted-by":"publisher","first-page":"e213604","DOI":"10.1212\/WNL.0000000000213604","article-title":"Delandistrogene moxeparvovec gene therapy in individuals with Duchenne muscular dystrophy: evidence in focus: report of the AAN guidelines subcommittee","volume":"104","author":"Oskoui","year":"2025","journal-title":"Neurology"},{"key":"B139","doi-asserted-by":"publisher","first-page":"2517","DOI":"10.1038\/s41467-025-57920-5","article-title":"Programmable mRNA therapeutics for controlled epigenomic modulation of single and multiplexed gene expression in diverse diseases","volume":"16","author":"O\u2019Donnell","year":"2025","journal-title":"Nat. Commun."},{"key":"B140","doi-asserted-by":"publisher","first-page":"4067","DOI":"10.1016\/j.cell.2022.09.026","article-title":"Structural basis for Cas9 off-target activity","volume":"185","author":"Pacesa","year":"2022","journal-title":"Cell"},{"key":"B141","doi-asserted-by":"publisher","DOI":"10.1101\/2024.11.23.625028","article-title":"Mdx mice dosed with antisense to CD49d and dystrophin exon skip morpholino; reduced force loss and affected gene expression pathways support ATL1102 combination therapy in DMD patients","author":"Padhye","year":"2024","journal-title":"bioRxiv"},{"key":"B142","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1007\/s00018-024-05550-3","article-title":"Targeting STMN2 for neuroprotection and neuromuscular recovery in spinal muscular atrophy: evidence from in vitro and in vivo SMA models","volume":"82","author":"Pagliari","year":"2024","journal-title":"Cell Mol. Life Sci."},{"key":"B143","doi-asserted-by":"publisher","first-page":"835839","DOI":"10.3389\/fneur.2021.835839","article-title":"Editorial: current and future developments in the therapeutic management of neuromuscular diseases","volume":"12","author":"Papadimas","year":"2021","journal-title":"Front. Neurol."},{"key":"B144","doi-asserted-by":"publisher","DOI":"10.1038\/s41587-025-02937-w","article-title":"Engineered base editors with reduced bystander editing through directed evolution","author":"Perrotta","year":"2025","journal-title":"Nat. Biotechnol"},{"key":"B145","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1089\/hum.2024.38567.bfs","article-title":"Pfizer weighs next steps after DMD therapy linked to boy\u2019s death fails phase III trial","volume":"35","author":"Philippidis","year":"2024","journal-title":"Hum. Gene Ther."},{"key":"B146","doi-asserted-by":"publisher","first-page":"3243","DOI":"10.1016\/j.ymthe.2021.09.003","article-title":"Full-length dystrophin restoration via targeted exon integration by AAV-CRISPR in a humanized mouse model of Duchenne muscular dystrophy","volume":"29","author":"Pickar-Oliver","year":"2021","journal-title":"Mol. Ther."},{"key":"B147","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1016\/j.ebiom.2019.01.038","article-title":"Histone deacetylase 4 protects from denervation and skeletal muscle atrophy in a murine model of amyotrophic lateral sclerosis","volume":"40","author":"Pigna","year":"2019","journal-title":"EBioMedicine"},{"key":"B148","doi-asserted-by":"publisher","first-page":"e200229","DOI":"10.1212\/NXG.0000000000200229","article-title":"Current advances and challenges in gene therapies for neurologic disorders: a review for the clinician","volume":"11","author":"Porcari","year":"2025","journal-title":"Neurol. Genet."},{"key":"B149","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1016\/j.omtn.2023.05.007","article-title":"Specific DMPK-promoter targeting by CRISPRi reverses myotonic dystrophy type 1-associated defects in patient muscle cells","volume":"32","author":"Porquet","year":"2023","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"B150","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1186\/s13023-022-02283-z","article-title":"Assessing the value of orphan drugs using conventional cost-effectiveness analysis: is it fit for purpose?","volume":"17","author":"Postma","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"B151","unstructured":"Sarepta announces completion of ESSENCE trial for exon 45 and 53 skipping therapies\n          \n          \n          2025"},{"key":"B152","unstructured":"Parent project muscular dystrophy\n          \n          \n          2023"},{"key":"B153","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1006\/bbrc.1996.1375","article-title":"Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence","volume":"226","author":"Pramono","year":"1996","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"B154","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1016\/j.stem.2017.09.006","article-title":"CRISPR\/Cas9-Based engineering of the epigenome","volume":"21","author":"Pulecio","year":"2017","journal-title":"Cell Stem Cell"},{"key":"B155","doi-asserted-by":"publisher","DOI":"10.1101\/2024.05.03.592438","article-title":"Efficient and durable gene activation by Cas9-mediated epigenome editing in vivo","author":"Qin","year":"2024","journal-title":"bioRxiv"},{"key":"B156","doi-asserted-by":"publisher","first-page":"E7110","DOI":"10.1073\/pnas.1520883112","article-title":"Synthetic CRISPR RNA-Cas9-guided genome editing in human cells","volume":"112","author":"Rahdar","year":"2015","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B157","volume-title":"Gene therapy: are high costs and manufacturing complexities impeding progress?","author":"Rajiv Gangurde","year":"2024"},{"key":"B158","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1007\/s12038-023-00411-w","article-title":"Non-viral delivery of nucleic acid for treatment of rare diseases of the muscle","volume":"49","author":"Rao","year":"2024","journal-title":"J. Biosci."},{"key":"B159","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1038\/s41587-024-02313-0","article-title":"Precise in vivo RNA base editing with a wobble-enhanced circular CLUSTER guide RNA","volume":"43","author":"Reautschnig","year":"2025","journal-title":"Nat. Biotechnol."},{"key":"B160","volume-title":"Platform technology designation program for drug development","year":"2024"},{"key":"B161","doi-asserted-by":"publisher","first-page":"e23","DOI":"10.1038\/mtna.2012.15","article-title":"Small RNA-mediated epigenetic myostatin silencing","volume":"1","author":"Roberts","year":"2012","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"B162","doi-asserted-by":"publisher","first-page":"1001340","DOI":"10.37349\/emed.2025.1001340","article-title":"AI-driven drug discovery and repurposing using multi-omics for myocardial infarction and heart failure","volume":"6","author":"Sabry","year":"2025","journal-title":"Explor. Med."},{"key":"B163","doi-asserted-by":"publisher","DOI":"10.1172\/JCI173510","article-title":"Thrombotic microangiopathy following systemic AAV administration is dependent on anti-capsid antibodies","author":"Salabarria","year":"2024","journal-title":"J. Clin. Invest."},{"key":"B220","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1186\/s12967-025-06856-x","article-title":"Multi-omics based and AI-driven drug repositioning for epigenetic therapy in female malignancies","volume":"23","author":"Salvati","year":"2025","journal-title":"J. Transl. Med."},{"key":"B164","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1186\/s12967-025-06856-x","article-title":"Multi-omics based and AI-driven drug repositioning for epigenetic therapy in female malignancies","volume":"23","author":"Salvati","year":"2025","journal-title":"J. Transl. Med."},{"key":"B165","volume-title":"Sarepta provides safety update for ELEVIDYS and initiates steps to strengthen safety in non-ambulatory individuals with duchenne","author":"Sarepta Therapeutics","year":"2025"},{"key":"B166","doi-asserted-by":"publisher","first-page":"1216","DOI":"10.3390\/cells13141216","article-title":"Graft-specific regulatory T cells for long-lasting, local tolerance induction","volume":"13","author":"Seltrecht","year":"2024","journal-title":"Cells"},{"key":"B167","doi-asserted-by":"publisher","first-page":"2035","DOI":"10.1093\/ptj\/pzaa140","article-title":"Magnetic resonance imaging studies in Duchenne muscular dystrophy: linking findings to the physical therapy clinic","volume":"100","author":"Senesac","year":"2020","journal-title":"Phys. Ther."},{"key":"B168","doi-asserted-by":"publisher","first-page":"1001263","DOI":"10.3389\/fimmu.2022.1001263","article-title":"rAAV immunogenicity, toxicity, and durability in 255 clinical trials: a meta-analysis","volume":"13","author":"Shen","year":"2022","journal-title":"Front. Immunol."},{"key":"B169","doi-asserted-by":"publisher","first-page":"761","DOI":"10.2217\/bmm-2020-0801","article-title":"Quantitative muscle MRI biomarkers in Duchenne muscular dystrophy: cross-sectional correlations with age and functional tests","volume":"15","author":"Sherlock","year":"2021","journal-title":"Biomark. Med."},{"key":"B170","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1089\/hum.2020.217","article-title":"Re: \u201cMoving forward after two deaths in a gene therapy trial of myotubular myopathy\u201d by Wilson and Flotte","volume":"31","author":"Shieh","year":"2020","journal-title":"Hum. Gene Ther."},{"key":"B171","doi-asserted-by":"publisher","first-page":"1125","DOI":"10.1016\/S1474-4422(23)00313-7","article-title":"Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial","volume":"22","author":"Shieh","year":"2023","journal-title":"Lancet Neurol."},{"key":"B172","doi-asserted-by":"publisher","first-page":"875","DOI":"10.1007\/s40265-021-01512-2","article-title":"Casimersen: first approval","volume":"81","author":"Shirley","year":"2021","journal-title":"Drugs"},{"key":"B173","doi-asserted-by":"publisher","first-page":"341","DOI":"10.4161\/rna.6.3.8723","article-title":"A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy","volume":"6","author":"Singh","year":"2009","journal-title":"RNA Biol."},{"key":"B174","doi-asserted-by":"publisher","first-page":"1527840","DOI":"10.3389\/fimmu.2025.1527840","article-title":"Enhancing AAV-microdystrophin gene therapy after repeat dosing by blocking phagocytosis","volume":"16","author":"Spathis","year":"2025","journal-title":"Front. Immunol."},{"key":"B175","doi-asserted-by":"publisher","first-page":"2609","DOI":"10.1016\/j.xphs.2021.03.024","article-title":"Manufacturing challenges and rational formulation development for AAV viral vectors","volume":"110","author":"Srivastava","year":"2021","journal-title":"J. Pharm. Sci."},{"key":"B176","doi-asserted-by":"publisher","first-page":"1434","DOI":"10.4103\/1673-5374.361538","article-title":"CMT1A current gene therapy approaches and promising biomarkers","volume":"18","author":"Stavrou","year":"2023","journal-title":"Neural Regen. Res."},{"key":"B177","doi-asserted-by":"publisher","first-page":"e159814","DOI":"10.1172\/JCI159814","article-title":"A translatable RNAi-driven gene therapy silences PMP22\/Pmp22 genes and improves neuropathy in CMT1A mice","volume":"132","author":"Stavrou","year":"2022","journal-title":"J. Clin. Invest."},{"key":"B178","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1016\/j.omtm.2023.08.009","article-title":"CRISPR-Cas9 homology-independent targeted integration of exons 1-19 restores full-length dystrophin in mice","volume":"30","author":"Stephenson","year":"2023","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"B179","doi-asserted-by":"publisher","DOI":"10.1101\/2025.10.10.681673","article-title":"An SMN2 splicing-correcting antisense oligonucleotide promotes gene looping","author":"Stigliano","year":"2025","journal-title":"bioRxiv"},{"key":"B180","doi-asserted-by":"publisher","first-page":"759994","DOI":"10.3389\/fgene.2021.759994","article-title":"Lessons learned from translational research in neuromuscular diseases: impact on study design, outcome measures and managing expectation","volume":"12","author":"Stimpson","year":"2021","journal-title":"Front. Genet."},{"key":"B181","doi-asserted-by":"publisher","first-page":"100523","DOI":"10.1016\/j.cobme.2024.100523","article-title":"Cell therapy for Duchenne muscular dystrophy using induced pluripotent stem cell-derived muscle stem cells and the potential of regenerative rehabilitation","volume":"30","author":"Takenaka-Ninagawa","year":"2024","journal-title":"Curr. Opin. Biomed. Eng."},{"key":"B182","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1172\/JCI117693","article-title":"Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin kobe","volume":"95","author":"Takeshima","year":"1995","journal-title":"J. Clin. Invest."},{"key":"B183","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1038\/s41467-020-14465-z","article-title":"Expanding the genome-targeting scope and the site selectivity of high-precision base editors","volume":"11","author":"Tan","year":"2020","journal-title":"Nat. Commun."},{"key":"B184","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1016\/j.bbrc.2015.04.035","article-title":"Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for congenital myasthenic syndromes","volume":"461","author":"Tei","year":"2015","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"B185","doi-asserted-by":"publisher","first-page":"1081","DOI":"10.1093\/brain\/awae384","article-title":"The role of dystrophin isoforms and interactors in the brain","volume":"148","author":"Tetorou","year":"2025","journal-title":"Brain"},{"key":"B186","doi-asserted-by":"publisher","first-page":"22143602251360664","DOI":"10.1177\/22143602251360664","article-title":"Use of imaging biomarkers and ambulatory functional endpoints in Duchenne muscular dystrophy clinical trials: systematic review and machine learning-driven trend analysis","author":"Todd","year":"2025","journal-title":"J. Neuromuscul. Dis."},{"key":"B187","doi-asserted-by":"publisher","first-page":"nwad143","DOI":"10.1093\/nsr\/nwad143","article-title":"Programmable deaminase-free base editors for G-to-Y conversion by engineered glycosylase","volume":"10","author":"Tong","year":"2023","journal-title":"Natl. Sci. Rev."},{"key":"B188","doi-asserted-by":"publisher","first-page":"4567","DOI":"10.1016\/j.cell.2023.08.041","article-title":"Mitigation of chromosome loss in clinical CRISPR-Cas9-engineered T cells","volume":"186","author":"Tsuchida","year":"2023","journal-title":"Cell"},{"key":"B189","doi-asserted-by":"publisher","first-page":"e1002319","DOI":"10.1371\/journal.pgen.1002319","article-title":"Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in charcot-marie-tooth neuropathies","volume":"7","author":"Vaccari","year":"2011","journal-title":"PLoS Genet."},{"key":"B190","doi-asserted-by":"publisher","first-page":"e02023-20","DOI":"10.1128\/JVI.02023-20","article-title":"Adeno-associated virus (AAV) capsid chimeras with enhanced infectivity reveal a core element in the AAV genome critical for both cell transduction and capsid assembly","volume":"95","author":"Viney","year":"2021","journal-title":"J. Virol."},{"key":"B191","doi-asserted-by":"publisher","first-page":"3220","DOI":"10.1016\/j.ymthe.2024.07.016","article-title":"A systematic review of immunosuppressive protocols used in AAV gene therapy for monogenic disorders","volume":"32","author":"Vrellaku","year":"2024","journal-title":"Mol. Ther."},{"key":"B192","doi-asserted-by":"publisher","first-page":"7965","DOI":"10.1038\/s41467-024-52002-4","article-title":"An engineered AAV targeting integrin alpha V beta 6 presents improved myotropism across species","volume":"15","author":"Vu Hong","year":"2024","journal-title":"Nat. Commun."},{"key":"B193","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1038\/s41573-019-0012-9","article-title":"Adeno-associated virus vector as a platform for gene therapy delivery","volume":"18","author":"Wang","year":"","journal-title":"Nat. Rev. Drug Discov."},{"key":"B194","doi-asserted-by":"publisher","first-page":"4284","DOI":"10.1038\/s41467-019-12281-8","article-title":"Optimized CRISPR guide RNA design for two high-fidelity Cas9 variants by deep learning","volume":"10","author":"Wang","year":"","journal-title":"Nat. Commun."},{"key":"B195","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1038\/s41392-024-01780-w","article-title":"Adeno-associated virus as a delivery vector for gene therapy of human diseases","volume":"9","author":"Wang","year":"2024","journal-title":"Signal Transduct. Target Ther."},{"key":"B196","doi-asserted-by":"publisher","first-page":"2740","DOI":"10.1093\/nar\/gkae057","article-title":"Selection-free precise gene repair using high-capacity adenovector delivery of advanced prime editing systems rescues dystrophin synthesis in DMD muscle cells","volume":"52","author":"Wang","year":"2024","journal-title":"Nucleic Acids Res."},{"key":"B197","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1038\/s43856-025-00733-w","article-title":"FORCE platform overcomes barriers of oligonucleotide delivery to muscle and corrects myotonic dystrophy features in preclinical models","volume":"5","author":"Weeden","year":"2025","journal-title":"Commun. Med. Lond."},{"key":"B198","doi-asserted-by":"publisher","first-page":"199","DOI":"10.3233\/JND-170233","article-title":"Efficient skipping of single exon duplications in DMD patient-derived cell lines using an antisense oligonucleotide approach","volume":"4","author":"Wein","year":"2017","journal-title":"J. Neuromuscul. Dis."},{"key":"B199","volume-title":"At-cost AAV: from production cost to patient dose","author":"Williams","year":"2024"},{"key":"B200","doi-asserted-by":"publisher","first-page":"106208","DOI":"10.1016\/j.nmd.2025.106208","article-title":"Consensus recommendations and considerations for the delivery and monitoring of gene therapy in patients with Duchenne muscular dystrophy","volume":"54","author":"Wolff","year":"2025","journal-title":"Neuromuscul. Disord."},{"key":"B201","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1038\/s41434-023-00419-9","article-title":"The estimated annual financial impact of gene therapy in the United States","volume":"30","author":"Wong","year":"2023","journal-title":"Gene Ther."},{"key":"B202","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1186\/s12929-025-01123-z","article-title":"Treating neuromuscular diseases: unveiling gene therapy breakthroughs and pioneering future applications","volume":"32","author":"Wu","year":"2025","journal-title":"J. Biomed. Sci."},{"key":"B203","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1002\/jcsm.13410","article-title":"A novel biomarker of fibrofatty replacement in dystrophinopathies identified by integrating transcriptome, magnetic resonance imaging, and pathology data","volume":"15","author":"Xie","year":"2024","journal-title":"J. Cachexia Sarcopenia Muscle"},{"key":"B204","doi-asserted-by":"publisher","first-page":"1133","DOI":"10.1186\/s12967-024-05957-3","article-title":"From bench to bedside: cutting-edge applications of base editing and prime editing in precision medicine","volume":"22","author":"Xu","year":"2024","journal-title":"J. Transl. Med."},{"key":"B205","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1016\/j.jcyt.2025.03.319","article-title":"Establishing AAV GMP production capacity to accelerate development of novel gene therapies","volume":"27","author":"Yoganathan Jq","year":"2025","journal-title":"Cytotherapy"},{"key":"B206","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1016\/j.stem.2016.01.021","article-title":"A single CRISPR-Cas9 deletion strategy that targets the majority of DMD patients restores dystrophin function in hiPSC-derived muscle cells","volume":"18","author":"Young","year":"2016","journal-title":"Cell Stem Cell"},{"key":"B207","doi-asserted-by":"publisher","DOI":"10.3390\/ijms17101668","article-title":"Porcine zygote injection with Cas9\/sgRNA results in DMD-modified pig with muscle dystrophy","volume":"17","author":"Yu","year":"2016","journal-title":"Int. J. Mol. Sci."},{"key":"B208","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.omtm.2021.02.015","article-title":"NaCl and KCl mediate log increase in AAV vector particles and infectious titers in a specific\/timely manner with the HSV platform","volume":"21","author":"Yu","year":"2021","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"B209","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1016\/j.synbio.2025.03.007","article-title":"Optimized dual-AAV base editor delivery system with enhanced editing efficiency and virion production titer","volume":"10","author":"Yu","year":"2025","journal-title":"Synth. Syst. Biotechnol."},{"key":"B210","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1016\/j.ymthe.2025.08.047","article-title":"Epigenome editing based treatment: progresses and challenges","volume":"34","author":"Yuan","year":"2026","journal-title":"Mol. Ther."},{"key":"B211","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1007\/s00018-024-05229-9","article-title":"Molecular mechanisms and therapeutic strategies for neuromuscular diseases","volume":"81","author":"Zambon","year":"2024","journal-title":"Cell Mol. Life Sci."},{"key":"B212","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1073\/pnas.75.1.280","article-title":"Inhibition of rous sarcoma virus replication and cell transformation by a specific oligodeoxynucleotide","volume":"75","author":"Zamecnik","year":"1978","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"B213","doi-asserted-by":"publisher","first-page":"884","DOI":"10.1111\/pbi.13259","article-title":"Expanding the base editing scope to GA and relaxed NG PAM sites by improved xCas9 system","volume":"18","author":"Zhang","year":"2020","journal-title":"Plant Biotechnol. J."},{"key":"B214","doi-asserted-by":"publisher","first-page":"3016","DOI":"10.1038\/s41467-025-58367-4","article-title":"Engineered circular guide RNAs enhance miniature CRISPR\/Cas12f-based gene activation and adenine base editing","volume":"16","author":"Zhang","year":"2025","journal-title":"Nat. Commun."},{"key":"B215","doi-asserted-by":"publisher","first-page":"101419","DOI":"10.1016\/j.omtm.2025.101419","article-title":"Impact of DNase digestion on titer measurements of engineered adeno-associated virus serotypes","volume":"33","author":"Zin","year":"2025","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"B216","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1186\/s13578-021-00647-9","article-title":"Pathological alterations in the gastrointestinal tract of a porcine model of DMD","volume":"11","author":"Zou","year":"2021","journal-title":"Cell Biosci."}],"container-title":["Frontiers in Cell and Developmental Biology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcell.2026.1765367\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T05:40:09Z","timestamp":1776145209000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcell.2026.1765367\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,14]]},"references-count":218,"alternative-id":["10.3389\/fcell.2026.1765367"],"URL":"https:\/\/doi.org\/10.3389\/fcell.2026.1765367","relation":{},"ISSN":["2296-634X"],"issn-type":[{"value":"2296-634X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,14]]},"article-number":"1765367"}}