#apaperaday Today's pick is the paper from Yang et al in @nature.com about a base editing approach that was tested in mice and monkeys and it later turned out also in a human (with lethal consequences). doi: 10.1038/s41586-026-10113-6

#apaperaday Today's pick is from Journal of chemical information and modelling by Hwang et al on a framework to predict gapmer ASO activity. Yuzu was more interested in her ball collection than confetti making today. doi: 10.1021/acs.jcim.6c01314

#apaperaday Today's pick is from @natmed.nature.com by Kim-McManus et al on the treatment of 2 patients with developmental and epileptic encephalopathy with an allele-selective individualized antisense oligonucleotide (ASO) targeting SCN2A DOI: 10.1038/s41591-026-04527-y

#apaperaday Today's pick is by McDonald et al from @thelancet.com the publication on the HOPE-3 demamiocel trial. Publication was well timed with the FDA meeting, but did not positively impact the votes. doi: 10.1016/S0140-6736(26)01385-1

#apaperaday we are back from the NMSS2026 in India, with a pick today from @worldmusclesociety.org journal Neuromuscular Disorders by Conrad et al on a 9 patient case series of female dystrophinopathy with severe cardiomyopathy. doi: 10.1016/j.nmd.2026.106484.

#apaperaday Final #NMSS2026 Indian Summerschool special is a pick by Vorwald et al in the journal of physiology on the effect of a high fat high sugar diet on mdx mice with or without steroid treatment. Doi 10.1113/JP289832

#apaperaday India Summerschool special part 4 is by Engebrecht et al in muscle and nerve on the development and validation of a caregiver reported outcome measure for Duchenne muscular dystrophy patients (DMDCR-HI). Doi 10.1002/mus.70327.

If you are interested in reading more about #NMSS2026 you can do this on twitter (that is me with my exon picture in the background 😅) x.com/StJohnsResea...

St. John's Research Institute #SJRI (@StJohnsResearch) on X

Day 1️⃣ | DMD in Focus: MDT, Advances & Advocacy An inspiring beginning to NMSS 2026! Day 1 explored every aspect of Duchenne Muscular Dystrophy—from standards of care and rehabilitation to cardi...

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#apaperaday india summer school special part 3 is a pick from cardiology therapy by Veerapandiyan et al on the long term cardiac outcomes of young Duchenne patients treated with elevidys (the FDA approved AAV74 micro-dystrophin). doi: 10.1007/s40119-026-00457-5

#apapreaday #NMSS2026 summerschool special part 2 is by Østergaard et al in @narjournal.bsky.social on the development of bicycle peptides targeting transferrin receptor 1 (TfR1) to deliver oligonucleotide therapies to muscle. Doi 10.1093/nar/gkaf270.

#apaperaday India neuromuscular summer school #NMSS specials coming your way this week from Bangalore with a first pick from journal of cachexia sarcopenia and muscle by Degan et al on blood biomarkers that correlate with function in Duchenne patients DOI: 10.1002/jcsm.70320

#apaperaday Today's pick is by Li et al in @narjournal.bsky.social on a bottlebrush polymer (PEG) to deliver an antisense oligonucleotide (ASO) to skeletal muscle in a myotonic dystrophy mouse model. Its called bottlebrush due to the shape (Yuzu does an impression). doi: 10.1093/nar/gkag619

#apaperaday Today's pick is a cautionary tale case study presented by Jiang et al in Translational Pediatrics, about a patient with female dystrophinopathy who presented with elevated 'liver' (but really muscle damage) enzymes. doi: 10.21037/tp-2026-1-0144.

#apaperaday Today's pick is a review from @ijmsc.bsky.social by Sorokina et al on fibro-adipogenic progenitor (FAP) cells. A cell type that was long overlooked but which has important functions for skeletal muscle health. DOI: 10.3390/ijms27115016

#apaperaday Today's pick is from Nucleic Acid Therapeutics by Evequoz et al on the abcDNA backbone chemistry, testing it for a gapmer RNase H approach after showing earlier that it can do exon skipping. I was involved in the exon skipping work but not in this effort. doi: 10.1177/21593337261417504

#apaperaday Today's pick is from @narjournal.bsky.social genomics and bioinformatics by Vlasenok et al on the use of alternative intronic polyadenylation to escape nonsense mediated decay. Yes those pigs indeed mean to represent a poly-A-pig-tail. doi: 10.1093/nargab/lqag052

#apaperaday Today's pick was read at home, but 🧵is brought to you from LUMC (had to pick up new driver's license en route to work, and municipal building did not open before 9 am). The pick is from @jama.com Neurology by Guise at al on autopsy analysis for tofersen. doi: 10.1001/jamaneurol.2026.2195

#apaperaday Today's pick is from @frontiersin.bsky.social genetics. It involves genetic sleuthing to find pathogenic variants in Duchenne patients. Paper is by Zhao et al and describes 10 patients where they managed to find variants for all due to a 3 step approach. DOI: 10.3389/fgene.2026.1805459

#apaperaday with an extended minipig figurine family due to a recent donation 🙏 Today's pick is from @moltherapy.bsky.social Advances by Beljan et al on using the U7 snRNP system to skip cryptic exons in cells from Duchenne and Becker patients. DOI: 10.1016/j.omta.2026.201750

Update: after cuddling and a nap the paper is now deemed worthy by Yuzu 🎉

Annemieke Aartsma-Rus@oligogirl.bsky.social · 4w ago

#apaperaday Today's pick was less appealing than cuddling for Yuzu. It is from Cell Calcium by Sauer et al on calcium handling in cultured cardiomyocytes from mdx & wild type mice. Yuzu had a calcium deficiency in the past, maybe this is why she did not like the pick. doi:10.1016/j.ceca.2026.103162.

#apaperaday Today's pick was less appealing than cuddling for Yuzu. It is from Cell Calcium by Sauer et al on calcium handling in cultured cardiomyocytes from mdx & wild type mice. Yuzu had a calcium deficiency in the past, maybe this is why she did not like the pick. doi:10.1016/j.ceca.2026.103162.

#apaperaday Today's pick is from Journal of Muscle Research & Cell motility by Lima Rocha da Silva et al comparing exercise responses of male & female mdx mice. The conclusion fits with what we know (male mice more severe), the experimental execution is suboptimal. doi: 10.1007/s10974-026-09734-1

#apaperaday Today's pick is a @biorxivpreprint.bsky.social by Faquhar et al on a systematic high throughput analysis of positively charged peptides to improve PMO delivery to cells. I love that PubMed now also alerts me to preprints on interesting topics. doi.org/10.64898/202...

#apaperaday Today's pick is from @ebiomedicine.bsky.social by Phan et al on a dose escalation study with sevasemten (from Edgewise) in Becker muscular dystrophy patients, suggesting a treatment effect on muscle injury markers. DOI: 10.1016/j.ebiom.2026.106335

#apaperaday Today's pick is 2 case reports by Pongakornkullachart et al in World Journal of Clinical Pediatrics on Duchenne muscular dystrophy cases who had also 1) Down Syndrome or 2) Turner Syndrome. This complicated diagnoses and care. DOI: 10.5409/wjcp.v15.i2.116726

#apaperaday Back home pick is from @frontiersin.bsky.social Pediatrics by Zhai et al on the Duchenne awareness of medical staff in China. Authors did an inventory to identify gaps and do targeted education. Doi 10.3389/fped.2026.1735961

#apaperaday Today’s pick is antisense oligonucleotide focused because Im attending an ASO meeting in St Jude at the pediatric translational neuroscience initiative. The pick is by Sandelius et al from Bioanalysis on a new method to quantify ASO levels. doi.org/10.1080/1757...

#apaperaday #PPMD2026 themed weekend special about Duchenne again with a pick from Mendell et al in Muscle & Nerve on the 5 year follow up of the first 4 Duchenne patients to receive microdystrophin gene therapy(delandistrogene moxeparvovec, aka Elevidys). doi: 10.1002/mus.70276.

#apaperaday #PPMD2026 special continues with a pick from neurology by McDonald et al on a prognostic score for the time to loss of ambulation in Duchenne patients. A cTAP publication. doi 10.1212/WNL.0000000000214705.

#apaperaday from the airport en route the #PPMD2026. Lets see how far we get with the Guo et al pick from @cellpress.bsky.social on their circular RNA system for RNA editing to induce exon skipping which they tested in monkeys and Duchenne patients. oi: 10.1016/j.cell.2026.05.030