Authors conclude optimal genome mapping can help elucidate complex rearrangements. I agree and also noticed a number of recent publications using this method to detect them. I commend the effort the authors took to find the variant. As announced #apaperaday will be back in the week of April 13.

#apaperaday The last one before a holiday is a pick by Turtinen et al in Molecular Cytogenetics on a complex pathogenic variant in the dystrophin gene and the tool to identify it (optical genome mapping - used frequently recently). Doi 10.1186/s13039-025-00743-2.

#apaperaday Today's penultimate pick before a holiday break is from Journal of Neurology by Lochmuller et al on a study of vamorolone in older Duchenne patients who were or were not transitioning from steroid use. Doi 10.1007/s00415-026-13711-6.

#apaperaday Back at LUMC with a pick from De Bellis et al in @mdpiopenaccess.bsky.social Biomedicines: a review on renal involvement in Duchenne muscular dystrophy patients. 10.3390/biomedicines14010230
NB: after this there will be 2 more #apaperadays before a break until mid April

#apaperaday final @keystonesymposia.bsky.social KSNATherapy special with a pick from @moltherapy.bsky.social Nucleic Acid by Blitek et al on the use of a gene therapy approach to improve angiogenesis in mice to improve ASO delivery. doi 10.1016/j.omtn.2026.102834

Today is already the last day of the #KSNATherapeutics @keystonesymposia.bsky.social meetings. However, before travelling back home, there will be another #apaperaday special tomorrow. Stay tuned.

#apaperaday @keystonesymposia.bsky.social #KSNATherapy26 special part 4 has fresh snow. The pick is from @natcomms.nature.com by Fatavelli et al with a thorough study on organoids for spinal muscular atrophy doi 10.1038/s41467-025-67725-1.

#apaperaday @keystonesymposia.bsky.social #KSNATherapy special part 3: Today a paper somewhat outside of my area of expertise but an important topic: a method to detect ASO (PMO) levels in serum by Kameyama et al published in Bioanalysis doi 10.1080/17576180.2026.2632688

#apaperaday part 2 of the @keystonesymposia.bsky.social NAT delivery special with a review on bioconjugates for delivery of antisense oligonucleotides (ASO) to the central nervous system (CNS) by Jin Lee et al in Advanced Drug Delivery Reviews doi 10.1016/j.addr.2026.115778.

#apaperaday @keystonesymposia.bsky.social special! Klaus & I made it to Banff for the nucleic acid therapy delivery conference. Today’s pick is from Nucleic Acid Therapeutics (NAT) by Andersson et al: an update on assessing hybridization dependent off target risks for NATs. doi 10.1089/nat.2024.0072

#apaperaday Today's pick is from BMC Neurology by Strober et al on an analysis of caregiver burden for Duchenne muscular dystrophy in 3 different regions (USA, Europe and Japan). Usually these studies focus on only one country. doi: 10.1186/s12883-025-04531-8

#apaperaday Today's pick is about a long term follow up study of women with pathogenic variants in the dystrophin gene by Lyu et al in @journalnd.bsky.social Very good to study these women in more detail. doi: 10.1177/22143602251408549

#apaperaday Today's pick is a @biorxivpreprint.bsky.social by Boone et al on recursive splicing of the CADM2 gene and the potential association with a deletion of a recursive splice site with ADHD. DOI: 10.1101/2025.08.14.666599

Note that there will be no #apaperaday tomorrow due to a meeting at EMA on platform therapies (focusing on RNA therapeutics). There will be papers on Tuesday, Wednesday and Thursday and then the @keystone on nucleic acid therapy special from Monday to Saturday next week. Stay tuned.

#apaperaday Sunday Duchenne Parent Onlus special with a pick from @worldmusclesociety.org journal Neuromuscular Disorders by Zwingli et al on the open label extension study for tamoxifen in Duchenne patients. Doi. 10.1016/j.nmd.2026.106366

#apaperaday Duchenne Parent Onlus themed from Rome for the annual meeting on Duchenne & Becker on rare disease day! 🤗Today a case report in Pediatrics by Drakou et al on a Duchenne patient with liver injury after elevidys treatment with a suggestion for earlier detection.DOI 10.1542/peds.2025-074192

#apaperaday Today's pick is Duchenne Parent Onlus meeting themed (their meeting is happening today-Sunday) with a first paper from Mickle et al on the natural history of Becker muscular dystrophy in @journalnd.bsky.social doi: 10.1177/22143602261420045

#apaperaday Today's pick is by Kord and Siu in Journal of Medical Genetics on 3 cases of families where an in-frame dystrophin deletion was 'asymptomatic' (I will argue there were symptoms, just not in skeletal muscle). DOI: 10.1136/jmg-2025-111103

#apaperaday With a cool paper by Sarde et al from @natcomms.nature.com on life imaging of muscle stem cells in muscle fibers from wild type and mdx mice doing also cross transplantation analysis. There are ample movies as supplementary files too. DOI: 10.1038/s41467-026-68474-5

#apaperaday with an origami request I received. Today's pick is on the Pfizer phase 3 clinical trial with fordadistrogene movaparvovec (AAV9 microdystrophin) by Muntoni et al published in @thelancetneuro.bsky.social Primary endpoint was sadly not met. doi: 10.1016/S1474-4422(26)00036-0.

#apaperaday with my latest origami animal (a Quetzalcoatl, though it also looks like pokemon Abra). Today's pick is from @frontiersmedia.bsky.social Neurology by Lee et al on using a Lactobacillus Casei to express myostatin and induce an antibody response in mdx mice. DOI: 10.3389/fneur.2025.1693484

#apaperaday Today's pick is by Wang et al published in @dmmjournal.bsky.social on a Duchenne rat model with a deletion of exon 45 in rat dystrophin gene (one of the most common deletions in human dystrophin gene). Obviously I had to make an origami rat to decorate the paper. doi: 10.1242/dmm.052578

#apaperaday with some delay due to train issues this morning. The pick is from @worldmusclesociety.org journal Neuromuscular Disorders, by Ulm Seiwert et al on 3 cases with duplications of dystrophin exons, only one of which associated with dystrophinopathy. DOI: 10.1016/j.nmd.2026.106335

#apaperaday Today's pick (with Duchenne UK & N=1 Collaborative origami paper) is by Shieh et al in Human Gene Therapy on learnings from the 2 fatal cases of acute liver failure after elevidys treatment, from a group of clinicians, experts and Sarepta representatives. DOI: 10.1177/10430342261423168

#apaperaday We are back with a pick by Gaci from Aurelie Goyenvalle's group on identifying proteins that bind to phosphorothioate (PS) backbones of antisense oligonucleotides published in @moltherapy.bsky.social nucleic acids. doi: 10.1016/j.omtn.2026.102832

#apaperaday Final TREAT-NMD conference themed paper on the day I travel back home, with a comment by Madaan et al on Elevidys gene therapy for Duchenne from the South Asian Country perspective, published in The Lancet Regional Health – Southeast Asia. Doi 10.1016/j.lansea.2025.100699.

#apaperaday again TREAT-NMD conference themed with today a pick from Scientific Reports by Okada et al, where they used a Japanese Duchenne patient registry (affiliated to the TREAT-NMD global registry) to generate a cost effectiveness analysis model. Doi 10.1038/s41598-025-32735-y

#apaperaday TREAT-NMD conference themed still, with a review by Loboda et al from @moltherapy.bsky.social Nucleic Acids on genetic strategies for Duchenne muscular dystrophy anticipating tomorrow’s challenges of gene therapy session and today’s keynote Terry Flotte. Doi 10.1016/j.omtn.2025.102759

#apaperaday will be TREAT-NMD conference themes the rest of the week for the TREAT-NMD conference (traveling to Lisbon soon). The pick is by Veerapandiyan et al in Cureus on a study with primary care givers with regards to diagnostic delays for NMDs. doi: 10.7759/cureus.99306

#apaperaday Today's pick is a collaborative study of Sarepta and Academics to assess the effect of peptide conjugated PMOs (PPMOs) on the respiratory function of the mdx Duchenne mouse model by Biswas et al in @moltherapy.bsky.social Nucleic Acids. DOI: 10.1016/j.omtn.2025.102810