Muntoni F, Wood MJ. Targeting RNA to treat neuromuscular disease. Nat Rev Drug Discov. 2011;10(8):621–37.

Article  CAS  PubMed  Google Scholar 

Desguerre I, Christov C, Mayer M, Zeller R, Becane HM, Bastuji-Garin S, Leturcq F, Chiron C, Chelly J, Gherardi RK. Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up. PloS one. 2009;4(2):e4347.

Article  PubMed  PubMed Central  Google Scholar 

Magri F, Govoni A, D’Angelo MG, Del Bo R, Ghezzi S, Sandra G, Turconi AC, Sciacco M, Ciscato P, Bordoni A, et al. Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. J Neurol. 2011;258(9):1610–23.

Article  PubMed  Google Scholar 

Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;91:77–93.

Article  Google Scholar 

Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, Case LE, Clemens PR, Hadjiyannakis S, Pandya S. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17(3):251–67.

Article  PubMed  PubMed Central  Google Scholar 

Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol. 2003;2(12):731–40.

Article  CAS  PubMed  Google Scholar 

Neri M, Rossi R, Trabanelli C, Mauro A, Selvatici R, Falzarano MS, Spedicato N, Margutti A, Rimessi P, Fortunato F, et al. The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study. Fronti HGenetics. 2020;11: 131.

Article  CAS  Google Scholar 

Ankala A, Kohn JN, Hegde A, Meka A, Ephrem CL, Askree SH, Bhide S, Hegde MR. Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene. Genome Res. 2012;22(1):25–34.

Article  CAS  PubMed  PubMed Central  Google Scholar 

White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, Janson AA, Ginjaar HB, Breuning MH, den Dunnen JT. Duplications in the DMD gene. Hum Mutat. 2006;27(9):938–45.

Article  CAS  PubMed  Google Scholar 

Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 1988;2(1):90–5.

Article  CAS  PubMed  Google Scholar 

Nguyen Q, Yokota T. Antisense oligonucleotides for the treatment of cardiomyopathy in Duchenne muscular dystrophy. Am J Trans Res. 2019;11(3):1202–18.

CAS  Google Scholar 

Wilton-Clark H, Yokota T. Antisense and gene Therapy options for Duchenne muscular dystrophy arising from mutations in the N-Terminal Hotspot. Genes. 2022;13(2): 257.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Iannaccone S, Phan H, Straub V, Muntoni F, Wolf D, Malhotra J, Chu R, Darton E, Mercuri E. P.132 Casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: Interim results from the Phase 3 ESSENCE trial. Neuromusc Disord. 2022;32:1.

Article  Google Scholar 

Aartsma-Rus A, Corey DR. The 10th oligonucleotide therapy approved: Golodirsen for Duchenne muscular dystrophy. Nucleic Acid Therapeutics. 2020;30(2):67–70.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Haslett JN, Sanoudou D, Kho AT, Bennett RR, Greenberg SA, Kohane IS, Beggs AH, Kunkel LM. Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. PNAS USA. 2002;99(23):15000–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tennyson CN, Klamut HJ, Worton RG. The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced. Nat Genet. 1995;9(2):184–90.

Article  CAS  PubMed  Google Scholar 

García-Rodríguez R, Hiller M, Jiménez-Gracia L, van der Pal Z, Balog J, Adamzek K, Aartsma-Rus A, Spitali P. Premature termination codons in the DMD gene cause reduced local mRNA synthesis. PNAS USA. 2020;117(28):16456–64.

Article  PubMed  PubMed Central  Google Scholar 

Spitali P, van den Bergen JC, Verhaart IE, Wokke B, Janson AA, van den Eijnde R, den Dunnen JT, Laros JF, Verschuuren JJ, ’t Hoen PA, Aartsma-Rus A. DMD transcript imbalance determines dystrophin levels. FASEB J. 2013;27(12):4909–16.

Article  CAS  PubMed  Google Scholar 

Hildyard JCW, Rawson F, Wells DJ, Piercy RJ. Multiplex in situ hybridization within a single transcript: RNAscope reveals dystrophin mRNA dynamics. PLoS ONE. 2020;15(9): e0239467.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hildyard JCW, Crawford AH, Rawson F, Riddell DO, Harron RCM, Piercy RJ. Single-transcript multiplex in situ hybridisation reveals unique patterns of dystrophin isoform expression in the developing mammalian embryo. Wellcome Open Res. 2020;5:76.

Article  PubMed  PubMed Central  Google Scholar 

Rossi R, Torelli S, Ala P, Weston W, Morgan J, Malhotra J, Muntoni F. MyoD-induced reprogramming of human fibroblasts and urinary stem cells in vitro: protocols and their applications. Front Physiol. 2023;14: 1145047.

Article  PubMed  PubMed Central  Google Scholar 

Godfrey C, Desviat LR, Smedsrød B, Piétri-Rouxel F, Denti MA, Disterer P, Lorain S, Nogales-Gadea G, Sardone V, Anwar R. Delivery is key: lessons learnt from developing splice-switching antisense therapies. EMBO Mol Med. 2017;9(5):545–57.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Frank DE, Schnell FJ, Akana C, El-Husayni SH, Desjardins CA, Morgan J, Charleston JS, Sardone V, Domingos J, Dickson G, et al. Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy. Neurol. 2020;94(21):e2270-82.

CAS  Google Scholar 

Aartsma-Rus A, Janson AA, Kaman WE, Bremmer-Bout M, den Dunnen JT, Baas F, van Ommen GJ, van Deutekom JC. Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Hum Mol Genet. 2003;12(8):907–14.

Article  CAS  PubMed  Google Scholar 

Aartsma-Rus A, Kaman WE, Bremmer-Bout M, Janson AA, den Dunnen JT, van Ommen GJ, van Deutekom JC. Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells. Gene Ther. 2004;11(18):1391–8.

Article  CAS  PubMed  Google Scholar 

Aartsma-Rus A, Kaman WE, Weij R, den Dunnen JT, van Ommen GJ, van Deutekom JC. Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exons. Mol Ther. 2006;14(3):401–7.

Article  CAS  PubMed  Google Scholar 

Soblechero-Martín P, Albiasu-Arteta E, Anton-Martinez A, de la Puente-Ovejero L, Garcia-Jimenez I, González-Iglesias G, et al. Duchenne muscular dystrophy cell culture models created by CRISPR/Cas9 gene editing and their application in drug screening. Sci Rep. 2021;14(1):18188.

Article  Google Scholar 

Beekman C, Janson AA, Baghat A, van Deutekom JC, Datson NA. Use of capillary western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy. PLoS ONE. 2018;13(4):e0195850.

Article  PubMed  PubMed Central  Google Scholar 

Falzarano MS, Mietto M, Fortunato F, Farnè M, Martini F, Ala P, et al. mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies. Sci Rep. 2023;24(1):15942.

Article  Google Scholar 

FDA Briefing Document. Peripheral and central nervous system drugs advisory committee meeting. FDA Briefing Document; 2016. https://www.fda.gov/files/advisory%20committees/published/FDA-Briefing-Information-for-the-January-22--2016-Meeting-of-the-Peripheral-and-Central-Nervous-System-Drugs-Advisory-Committee.pdf.

Clemens PR, Rao VK, Connolly AM, Harper AD, Mah JK, Smith EC, McDonald CM, et al. Safety, Tolerability, and efficacy of Viltolarsen in boys with Duchenne muscular dystrophy amenable to exon 53 skipping: a phase 2 Randomized Clinical Trial. JAMA Neurol. 2020;77(8):982–91.

Article  PubMed