Myotonic dystrophy (DM) is a genetic neuromuscular disorder with two types: DM1 and DM2. This article explains their causes, symptoms, inheritance, and current treatment research.
Golden Retriever Muscular Dystrophy (GRMD) is a genetic disorder in dogs that closely resembles Duchenne muscular dystrophy (DMD) in humans. It serves as a valuable model for studying therapies, including gene therapy and pharmacological treatments.
This systematic review evaluates predictors of cardiac disease in Duchenne muscular dystrophy, grading evidence on pharmacological treatments, genetic modifiers, and interventions.
This article explores how the Dutch Center for RNA Therapeutics (DCRT) is advancing individualized antisense oligonucleotide (ASO) therapies for rare brain and eye diseases.
This study explores Thrombospondin-4 as a cerebrospinal fluid biomarker for therapy response in pediatric SMA patients, highlighting its potential for treatment monitoring.
This case report highlights the early diagnosis of Duchenne muscular dystrophy (DMD) in a presymptomatic infant using NGS and CMA, emphasizing the benefits of genetic testing.
This study evaluates the effectiveness of Nusinersen in adolescents and adults with SMA, highlighting improvements in motor function based on HFMSE, RULM, and 6MWT scores.
This article reviews the chemistry, structure, and function of oligonucleotide therapeutics, highlighting their modifications, delivery methods, and clinical successes.
This article reviews ubiquitylomics, a novel approach for studying protein ubiquitylation in skeletal muscle, highlighting its role in muscle health, disease, and therapeutics.
This article reviews current exon skipping trials for Duchenne muscular dystrophy, focusing on FDA-approved AON therapies, challenges, and future research directions.
This study reveals that CDR1as knockdown in goat skeletal muscle satellite cells increases miR-27a-3p expression, leading to ANGPT1 inhibition and reduced differentiation.
This article reviews antisense and gene therapy strategies for DMD mutations in the exon 2–22 region, focusing on exon skipping, AAV vectors, and microdystrophin therapy.
This review discusses nucleic acid-based therapies for SBMA, including ASOs, siRNAs, and gene therapy, focusing on their potential to slow disease progression and improve muscle function.
This article outlines standardized guidelines for developing N-of-1 exon skipping antisense oligonucleotides, emphasizing preclinical testing, ASO design, and data sharing.
This study presents optimized guidelines for designing antisense oligonucleotides, analyzing their sequence composition, binding energy, and role in exon skipping therapies.
