Paper a day Archives • World Duchenne

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#apaperaday: The Adiponectin Receptor Agonist, ALY688: A Promising Therapeutic for Fibrosis in the Dystrophic Muscle

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: The Adiponectin Receptor Agonist, ALY688: A Promising Therapeutic…

#apaperaday: Relationship between growth and ambulation loss in Duchenne muscular dystrophy boys on steroids

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Relationship between growth and ambulation loss in Duchenne…

#apaperaday: Evaluation of fatigue and fatigability in people with Duchenne muscular dystrophy using a dynamic arm support - a pilot study

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Evaluation of fatigue and fatigability in people with…

#apaperaday: Profound cellular defects attribute to muscular pathogenesis in the rhesus monkey model of Duchenne muscular dystrophy

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Profound cellular defects attribute to muscular pathogenesis in…

#apaperaday: Severe cardiac and skeletal manifestations in DMD-edited microminipigs: an advanced surrogate for Duchenne muscular dystrophy

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Severe cardiac and skeletal manifestations in DMD-edited microminipigs:…

#apaperaday: In Vitro Studies to Evaluate the Intestinal Permeation of an Ursodeoxycholic Acid-Conjugated Oligonucleotide for Duchenne Muscular Dystrophy Treatment

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: In Vitro Studies to Evaluate the Intestinal Permeation…

#apaperaday: Correction of exon 2, exon 2–9 and exons 8–9 duplications in DMD patient myogenic cells by a single CRISPR/Cas9 system

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Correction of exon 2, exon 2–9 and exons…

#apaperaday: Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Identifying inversions with breakpoints in the Dystrophin gene…

#apaperaday: 274th ENMC international workshop: recommendations for optimizing bone strength in neuromuscular disorders. Hoofddorp, The Netherlands, 19-21 January 2024

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: 274th ENMC international workshop: recommendations for optimizing bone…

#apaperaday: Phase I/II Trial of Brogidirsen: Dual-Targeting Antisense Oligonucleotides for Exon 44 Skipping in Duchenne Muscular Dystrophy

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Phase I/II Trial of Brogidirsen: Dual-Targeting Antisense Oligonucleotides…

#apaperaday: Further evidence for an attenuated phenotype of in-frame DMD deletions affecting the central rod domain of dystrophin around exon 48

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Further evidence for an attenuated phenotype of in-frame…

#apaperaday: Skeletal muscle-on-a-chip in microgravity as a platform for regeneration modeling and drug screening

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Skeletal muscle-on-a-chip in microgravity as a platform for…

#apaperaday: Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Tailored antisense oligonucleotides designed to correct aberrant splicing…

#apaperaday: “If you cannot measure it, you cannot improve it”. Outcome measures in Duchenne Muscular Dystrophy: current and future perspectives

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: “If you cannot measure it, you cannot improve…

#apaperaday: Clinician Perspectives of Gene Therapy as a Treatment Option for Duchenne Muscular Dystrophy

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Clinician Perspectives of Gene Therapy as a Treatment…

#apaperaday: The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: The Dutch Dystrophinopathy Database: A National Registry with…

#apaperaday: mRNA-specific readthrough of nonsense codons by antisense oligonucleotides (R-ASOs)

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: mRNA-specific readthrough of nonsense codons by antisense…

#apaperaday: Rational Design of Chimeric Antisense Oligonucleotides on a Mixed PO–PS Backbone for Splice-Switching Applications

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Rational Design of Chimeric Antisense Oligonucleotides on a…

#apaperaday: Preparing for Patient-Customized N-of-1 Antisense Oligonucleotide Therapy to Treat Rare Diseases

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Preparing for Patient-Customized N-of-1 Antisense Oligonucleotide Therapy to…

#apaperaday: Levels of Exon-Skipping Are Not Artificially Overestimated Because of the Increased Affinity of Tricyclo-DNA-Modified Antisense Oligonucleotides to the Target DMD Exon

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Levels of Exon-Skipping Are Not Artificially Overestimated Because…

#apaperaday: Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Disease-associated comorbidities, medication records and anthropometric measures in…

#apaperaday: Adenine base editing-mediated exon skipping restores dystrophin in humanized Duchenne mouse model

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Adenine base editing-mediated exon skipping restores dystrophin in…

#apaperaday: Split intein-mediated protein trans-splicing to express large dystrophins

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Split intein-mediated protein trans-splicing to express large dystrophins…

#apaperaday: Systemic delivery of full-length dystrophin in Duchenne muscular dystrophy mice

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Systemic delivery of full-length dystrophin in Duchenne muscular…

#apaperaday: Adverse events associated with eteplirsen: A disproportionality analysis using the 2016–2023 FAERS data

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Adverse events associated with eteplirsen: A disproportionality analysis…

#apaperaday: Early motor, cognitive, language, behavioural and social emotional development in infants and young boys with Duchenne Muscular Dystrophy- A systematic review

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Early motor, cognitive, language, behavioural and social emotional…

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#apaperaday: The Adiponectin Receptor Agonist, ALY688: A Promising Therapeutic for Fibrosis in the Dystrophic Muscle

#apaperaday: Relationship between growth and ambulation loss in Duchenne muscular dystrophy boys on steroids

#apaperaday: Evaluation of fatigue and fatigability in people with Duchenne muscular dystrophy using a dynamic arm support - a pilot study

#apaperaday: Profound cellular defects attribute to muscular pathogenesis in the rhesus monkey model of Duchenne muscular dystrophy

#apaperaday: Severe cardiac and skeletal manifestations in DMD-edited microminipigs: an advanced surrogate for Duchenne muscular dystrophy

#apaperaday: In Vitro Studies to Evaluate the Intestinal Permeation of an Ursodeoxycholic Acid-Conjugated Oligonucleotide for Duchenne Muscular Dystrophy Treatment

#apaperaday: Correction of exon 2, exon 2–9 and exons 8–9 duplications in DMD patient myogenic cells by a single CRISPR/Cas9 system

#apaperaday: Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases

#apaperaday: 274th ENMC international workshop: recommendations for optimizing bone strength in neuromuscular disorders. Hoofddorp, The Netherlands, 19-21 January 2024

#apaperaday: Phase I/II Trial of Brogidirsen: Dual-Targeting Antisense Oligonucleotides for Exon 44 Skipping in Duchenne Muscular Dystrophy

#apaperaday: Further evidence for an attenuated phenotype of in-frame DMD deletions affecting the central rod domain of dystrophin around exon 48

#apaperaday: Skeletal muscle-on-a-chip in microgravity as a platform for regeneration modeling and drug screening

#apaperaday: Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders

#apaperaday: “If you cannot measure it, you cannot improve it”. Outcome measures in Duchenne Muscular Dystrophy: current and future perspectives

#apaperaday: Clinician Perspectives of Gene Therapy as a Treatment Option for Duchenne Muscular Dystrophy

#apaperaday: The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data

#apaperaday: mRNA-specific readthrough of nonsense codons by antisense oligonucleotides (R-ASOs)

#apaperaday: Rational Design of Chimeric Antisense Oligonucleotides on a Mixed PO–PS Backbone for Splice-Switching Applications

#apaperaday: Preparing for Patient-Customized N-of-1 Antisense Oligonucleotide Therapy to Treat Rare Diseases

#apaperaday: Levels of Exon-Skipping Are Not Artificially Overestimated Because of the Increased Affinity of Tricyclo-DNA-Modified Antisense Oligonucleotides to the Target DMD Exon

#apaperaday: Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy

#apaperaday: Adenine base editing-mediated exon skipping restores dystrophin in humanized Duchenne mouse model

#apaperaday: Split intein-mediated protein trans-splicing to express large dystrophins

#apaperaday: Systemic delivery of full-length dystrophin in Duchenne muscular dystrophy mice

#apaperaday: Adverse events associated with eteplirsen: A disproportionality analysis using the 2016–2023 FAERS data

#apaperaday: Early motor, cognitive, language, behavioural and social emotional development in infants and young boys with Duchenne Muscular Dystrophy- A systematic review

#apaperaday: Boy Dosed with Pfizer's Duchenne Muscular Dystrophy Gene Therapy Dies a Year After Phase II Trial

#apaperaday: Post-transcriptional Regulation of Gene Expression via Unproductive Splicing

#apaperaday: Deletion of miR-146a enhances therapeutic protein restoration in model of dystrophin exon skipping

#apaperaday: Sexual health and fertility in Duchenne muscular dystrophy—An exploratory study

Road to independence: Documentary about young people with NMD

Webinar Recording: Understanding the role of dystrophin in the brain in DMD/BMD

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