I just discovered that @zotero.bsky.social has an App! 😍
So if your someone who tries to read at least #APaperADay - this is amazing! 🤩
So if your someone who tries to read at least #APaperADay - this is amazing! 🤩
December 3, 2024 at 8:05 AM
I just discovered that @zotero.bsky.social has an App! 😍
So if your someone who tries to read at least #APaperADay - this is amazing! 🤩
So if your someone who tries to read at least #APaperADay - this is amazing! 🤩
#apaperaday Today's pick is a commentary from Kirschner and Bonneman on the publication by McDonald et al on the HOPE-3 demamiocel trial in Duchenne that featured in an earlier #apaperaday bsky.app/profile/olig...
doi: 10.1016/S0140-6736(26)01656-9.
lets see what the experts have to say :)
doi: 10.1016/S0140-6736(26)01656-9.
lets see what the experts have to say :)
August 27, 2026 at 6:36 AM
#apaperaday Today's pick is a commentary from Kirschner and Bonneman on the publication by McDonald et al on the HOPE-3 demamiocel trial in Duchenne that featured in an earlier #apaperaday bsky.app/profile/olig...
doi: 10.1016/S0140-6736(26)01656-9.
lets see what the experts have to say :)
doi: 10.1016/S0140-6736(26)01656-9.
lets see what the experts have to say :)
Please note #apaperaday will be #apapereveryfewdays until May 7 due to travels & a busy schedule. This is a good way to wean you off, as there will be no #apaperaday between May 8 and May 26 due to a holiday. As you can see I am quickly running out of origami paper: need to get new from the source.
April 28, 2025 at 6:41 AM
Please note #apaperaday will be #apapereveryfewdays until May 7 due to travels & a busy schedule. This is a good way to wean you off, as there will be no #apaperaday between May 8 and May 26 due to a holiday. As you can see I am quickly running out of origami paper: need to get new from the source.
No #apaperaday because there is a bug in the system 🦠 . Yuzu is doing well. Hopefully I’ll be ok again next week
January 10, 2025 at 4:25 PM
No #apaperaday because there is a bug in the system 🦠 . Yuzu is doing well. Hopefully I’ll be ok again next week
#apaperaday is back from holiday. Yuzu is still with the birbsitter so a holiday picture it is. Today's pick is from @nejm.org by Musunuru et al on an N=1 case (patient with severe metabolic disease) treated by base editing (CRISPR therapy). DOI: 10.1056/NEJMoa2504747 Very good way to restart!
May 27, 2025 at 4:35 AM
#apaperaday is back from holiday. Yuzu is still with the birbsitter so a holiday picture it is. Today's pick is from @nejm.org by Musunuru et al on an N=1 case (patient with severe metabolic disease) treated by base editing (CRISPR therapy). DOI: 10.1056/NEJMoa2504747 Very good way to restart!
#apaperaday 1st paper on @bsky.app more will follow. The pick is from Journal of the American Heart Association by Breaux & Chet Villa et al on heart histology of 12 Duchenne patients. Chet presented this Jan 2023 at an PPMD meeting for a few patients. Now the full story DOI: 10.1161/JAHA.123.033862
November 19, 2024 at 7:01 AM
#apaperaday 1st paper on @bsky.app more will follow. The pick is from Journal of the American Heart Association by Breaux & Chet Villa et al on heart histology of 12 Duchenne patients. Chet presented this Jan 2023 at an PPMD meeting for a few patients. Now the full story DOI: 10.1161/JAHA.123.033862
#apaperaday First post-holiday Duchenne related paper is a report of American Association of Neurology Guidelines Subcommittee by Oskoui et al on evidence for delandistrogene moxeparvovec (elevidys) for Duchenne muscular dystrophy patients published in Neurology. doi: 10.1212/WNL.0000000000213604
May 29, 2025 at 8:31 AM
#apaperaday First post-holiday Duchenne related paper is a report of American Association of Neurology Guidelines Subcommittee by Oskoui et al on evidence for delandistrogene moxeparvovec (elevidys) for Duchenne muscular dystrophy patients published in Neurology. doi: 10.1212/WNL.0000000000213604
#apaperaday after a productive 3 days in Newcastle, the last TREAT-NMD themed special is on a natural history study in Becker muscular dystrophy patients published by Bello et al in Neurology Genetics.
doi: 10.1212/NXG.0000000000200285.
doi: 10.1212/NXG.0000000000200285.
August 15, 2025 at 7:35 AM
#apaperaday after a productive 3 days in Newcastle, the last TREAT-NMD themed special is on a natural history study in Becker muscular dystrophy patients published by Bello et al in Neurology Genetics.
doi: 10.1212/NXG.0000000000200285.
doi: 10.1212/NXG.0000000000200285.
#apaperaday Today's pick is from the OTS affiliated journal Nucleic Acids Therapeutics by Mondragon et al on the evaluation of neuronal lysosome changes after exposure to antisense oligonucleotides (ASOs). doi: 10.1177/21593337261473518
September 10, 2026 at 8:41 AM
#apaperaday Today's pick is from the OTS affiliated journal Nucleic Acids Therapeutics by Mondragon et al on the evaluation of neuronal lysosome changes after exposure to antisense oligonucleotides (ASOs). doi: 10.1177/21593337261473518
#apaperaday Today's pick is by Martinez-Pizarro et al published in @narjournal.bsky.social Molecular Medicine, using antisense oligonucleotides (ASO) to increase inclusion of a microexon in the CPEB4 gene. Interesting because exon inclusion is more difficult than skipping DOI: 10.1093/narmme/ugaf035
November 26, 2025 at 8:21 AM
#apaperaday Today's pick is by Martinez-Pizarro et al published in @narjournal.bsky.social Molecular Medicine, using antisense oligonucleotides (ASO) to increase inclusion of a microexon in the CPEB4 gene. Interesting because exon inclusion is more difficult than skipping DOI: 10.1093/narmme/ugaf035
#apaperaday Today's pick is from European Journal of Paediatric Neurology by Castro et al on a Delphi consensus study about the transition process of Duchenne patients from pediatric to adult care. DOI: 10.1016/j.ejpn.2025.01.004
February 7, 2025 at 8:09 AM
#apaperaday Today's pick is from European Journal of Paediatric Neurology by Castro et al on a Delphi consensus study about the transition process of Duchenne patients from pediatric to adult care. DOI: 10.1016/j.ejpn.2025.01.004
#Watercolours are the stories your heart knows best. ❤️Back with daily dose of #Art and preparing for #apaperaday October challenge.
#ArtSky #artist #artwork #ArtLovers #ArtLoversCommunity
#ArtSky #artist #artwork #ArtLovers #ArtLoversCommunity
September 21, 2024 at 3:40 PM
#Watercolours are the stories your heart knows best. ❤️Back with daily dose of #Art and preparing for #apaperaday October challenge.
#ArtSky #artist #artwork #ArtLovers #ArtLoversCommunity
#ArtSky #artist #artwork #ArtLovers #ArtLoversCommunity
#apaperaday with an origami galactic pigeon. The pick is from the journal of managed care & specialty pharmacy by Posner et al on health care utilization in Duchenne patients of different race and ethnicity. Study was sponsored by Pfizer. DOI: 10.18553/jmcp.2025.31.2.205
February 12, 2025 at 8:22 AM
#apaperaday with an origami galactic pigeon. The pick is from the journal of managed care & specialty pharmacy by Posner et al on health care utilization in Duchenne patients of different race and ethnicity. Study was sponsored by Pfizer. DOI: 10.18553/jmcp.2025.31.2.205
#apaperaday Today's pick if from Human Gene Therapy by Siddiqui et al on using pretreatment of sirolimus for Elevidys (AAV micro-dystrophin gene therapy) treatment of Duchenne patients. doi: 10.1177/10430342261472609.
August 28, 2026 at 8:28 AM
#apaperaday Today's pick if from Human Gene Therapy by Siddiqui et al on using pretreatment of sirolimus for Elevidys (AAV micro-dystrophin gene therapy) treatment of Duchenne patients. doi: 10.1177/10430342261472609.
#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.
March 12, 2026 at 12:11 PM
#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 Today's pick is from @naturecomms.bsky.social by Millozi et al on using integrin targeting aptamers and gold nanoparticles to deliver miR-206 to muscle stem cells in a mouse model for Duchenne. DOI: 10.1038/s41467-024-55223-9
January 15, 2025 at 8:19 AM
#apaperaday Today's pick is from @naturecomms.bsky.social by Millozi et al on using integrin targeting aptamers and gold nanoparticles to deliver miR-206 to muscle stem cells in a mouse model for Duchenne. DOI: 10.1038/s41467-024-55223-9
#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
March 13, 2026 at 1:55 PM
#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
#apaperaday No 🧵 today or tomorrow because it is a bank holiday dur to Ascension day. Enjoying a morning coffee in my OTS mug. See you all on Monday
May 14, 2026 at 7:12 AM
#apaperaday No 🧵 today or tomorrow because it is a bank holiday dur to Ascension day. Enjoying a morning coffee in my OTS mug. See you all on Monday
Yuzu had no interest in #apaperaday paper selection from @jclinical-invest.bsky.social by Tasfaout on studies to express full-length dystrophin using the split intein system and myoAAV in young and old mdx4cv mice. Part 2 in Duchenne gene therapy week DOI: 10.1172/JCI189075
Abstract
Abstract
August 26, 2025 at 6:17 AM
Yuzu had no interest in #apaperaday paper selection from @jclinical-invest.bsky.social by Tasfaout on studies to express full-length dystrophin using the split intein system and myoAAV in young and old mdx4cv mice. Part 2 in Duchenne gene therapy week DOI: 10.1172/JCI189075
Abstract
Abstract
Volker Straub introducing Duchenne at the Duchenne UK New Horizons meeting. Duchenne muscular dystrophy is a misnomer as many different organs are affected
Stay tuned for a #apaperaday Duchenne UK special later (my laptop is currently with AV for my interactive talk later this morning)
Stay tuned for a #apaperaday Duchenne UK special later (my laptop is currently with AV for my interactive talk later this morning)
March 29, 2025 at 9:51 AM
Volker Straub introducing Duchenne at the Duchenne UK New Horizons meeting. Duchenne muscular dystrophy is a misnomer as many different organs are affected
Stay tuned for a #apaperaday Duchenne UK special later (my laptop is currently with AV for my interactive talk later this morning)
Stay tuned for a #apaperaday Duchenne UK special later (my laptop is currently with AV for my interactive talk later this morning)
#apaperaday The oligonucleotide special continues with a pick from Matsuo in the International Journal of Molecular Sciences, a retrospective reflection on 30 years since the theoretic conception of exon skipping for Duchenne muscular dystrophy
DOI: 10.3390/ijms26031303
DOI: 10.3390/ijms26031303
March 7, 2025 at 9:15 AM
#apaperaday The oligonucleotide special continues with a pick from Matsuo in the International Journal of Molecular Sciences, a retrospective reflection on 30 years since the theoretic conception of exon skipping for Duchenne muscular dystrophy
DOI: 10.3390/ijms26031303
DOI: 10.3390/ijms26031303
#apaperaday Today is Duchenne themed for the @worldduchenne.bsky.social care conference I will present at today. A pick by Tian et al from the Journal of comparative effectiveness research on the post marketing study for eteplirsen, golodisren and casimersen in Duchenne. Doi 10.57264/cer-2025-0108
May 27, 2026 at 5:50 AM
#apaperaday Today is Duchenne themed for the @worldduchenne.bsky.social care conference I will present at today. A pick by Tian et al from the Journal of comparative effectiveness research on the post marketing study for eteplirsen, golodisren and casimersen in Duchenne. Doi 10.57264/cer-2025-0108
#apaperaday Today’s pick featured before as a @biorxivpreprint.bsky.social
but now the full paper is out in Skeletal Muscle, by Hildyard et al on dystrophin expression regulation during muscle repair. Showing off the mouse doctor I received yesterday from TACT. doi10.1186/s13395-025-00398-y
but now the full paper is out in Skeletal Muscle, by Hildyard et al on dystrophin expression regulation during muscle repair. Showing off the mouse doctor I received yesterday from TACT. doi10.1186/s13395-025-00398-y
November 8, 2025 at 11:31 AM
#apaperaday Today’s pick featured before as a @biorxivpreprint.bsky.social
but now the full paper is out in Skeletal Muscle, by Hildyard et al on dystrophin expression regulation during muscle repair. Showing off the mouse doctor I received yesterday from TACT. doi10.1186/s13395-025-00398-y
but now the full paper is out in Skeletal Muscle, by Hildyard et al on dystrophin expression regulation during muscle repair. Showing off the mouse doctor I received yesterday from TACT. doi10.1186/s13395-025-00398-y
#apaperaday Today's pick is from Human Gene Therapy by Qin et al on the neutralizing antibody prevalence against AAV2 and AAV9 in the Chinese adult, childhood and dystrophinopathy population. DOI: 10.1089/hum.2024.079
December 16, 2024 at 9:40 AM
#apaperaday Today's pick is from Human Gene Therapy by Qin et al on the neutralizing antibody prevalence against AAV2 and AAV9 in the Chinese adult, childhood and dystrophinopathy population. DOI: 10.1089/hum.2024.079
#apapaperaday Today's pick is a commentary by Gordon Smith on the Evidence in Focus #apaperaday from yesterday so the topic is again Elevidys' approval and the lack of formal evidence and again published in Neurology. DOI: 10.1212/WNL.0000000000213776
May 30, 2025 at 6:33 AM
#apapaperaday Today's pick is a commentary by Gordon Smith on the Evidence in Focus #apaperaday from yesterday so the topic is again Elevidys' approval and the lack of formal evidence and again published in Neurology. DOI: 10.1212/WNL.0000000000213776