#apaperaday: Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Treatment with ataluren in four symptomatic Duchenne carriers.…
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#apaperaday: Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Management of Select Adverse Events Following Delandistrogene Moxeparvovec…
#apaperaday: Pharmacological inhibition of HDAC6 improves muscle phenotypes in dystrophin-deficient mice by downregulating TGF-β via Smad3 acetylation
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Pharmacological inhibition of HDAC6 improves muscle phenotypes in…
#apaperaday: Regulation of Chemokines and Cytokines by Histone Deacetylases and an Update on Histone Decetylase Inhibitors in Human Diseases
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Regulation of Chemokines and Cytokines by Histone Deacetylases…
#apaperaday: Diversity of mutations in the dystrophin gene and details of muscular lesions in porcine dystrophinopathies
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Diversity of mutations in the dystrophin gene and…
#apaperaday: Evolving Role of Viltolarsen for Treatment of Duchenne Muscular Dystrophy
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Evolving Role of Viltolarsen for Treatment of Duchenne…
#apaperaday: De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated…
#apaperaday: Comprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1–2 duplications based on long-read sequencing
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Comprehensive analysis of genomic complexity in the 5’…
#apaperaday: Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Cell-mediated exon skipping normalizes dystrophin expression and muscle…
#apaperaday: Megabase-Scale Transgene De-Duplication to Generate a Functional Single-Copy Full-Length Humanized DMD Mouse Model
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Megabase-Scale Transgene De-Duplication to Generate a Functional Single-Copy…
#apaperaday: Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Clinical and genetic interpretation of uncertain DMD missense…
#apaperaday: Longitudinal data of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 patients with Duchenne muscular dystrophy
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Longitudinal data of serum creatine kinase levels and…
#apaperaday: Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS)
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Safety and efficacy of givinostat in boys with…
#apaperaday: Design requirements of upper extremity supports for daily use in Duchenne muscular dystrophy with severe muscle weakness
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Design requirements of upper extremity supports for daily…
#apaperaday: EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: EURO-NMD registry: federated FAIR infrastructure, innovative technologies and…
#apaperaday: Survival among patients receiving eteplirsen for up to 8 years for the treatment of Duchenne muscular dystrophy and contextualization with natural history controls
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Survival among patients receiving eteplirsen for up to…
#apaperaday: HDAC inhibitors as pharmacological treatment for Duchenne muscular dystrophy: a discovery journey from bench to patients
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: HDAC inhibitors as pharmacological treatment for Duchenne muscular…
#apaperaday: Spending on Targeted Therapies for Duchenne Muscular Dystrophy
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Spending on Targeted Therapies for Duchenne Muscular Dystrophy…
#apaperaday: Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Increase in Full-Length Dystrophin by Exon Skipping in…
#apaperaday: Decreased quality of life in Duchenne muscular disease patients related to functional neurological and cardiac impairment
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Decreased quality of life in Duchenne muscular disease…
#apaperaday: Characteristics of Patients Receiving Novel Muscular Dystrophy Drugs in Trials vs Routine Care
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Characteristics of Patients Receiving Novel Muscular Dystrophy Drugs…
#apaperaday: The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: The role of ataluren in the treatment of…
#apaperaday: Evolution of neuropsychological and behavioral profile in a cohort of pediatric patients with Becker muscular dystrophy in a longitudinal study
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Evolution of neuropsychological and behavioral profile in a…
#apaperaday: Selection-free precise gene repair using high-capacity adenovector delivery of advanced prime editing systems rescues dystrophin synthesis in DMD muscle cells
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Selection-free precise gene repair using high-capacity adenovector delivery…
#apaperaday: The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient…
#apaperaday: Patient’s perspective about research landscape for rare diseases in India
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Patient’s perspective about research landscape for rare diseases…
#apaperaday: DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: DMD deletions underlining mild dystrophinopathies: literature review highlights…
#apaperaday: Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Characterization of Phenotypic Variability in Becker Muscular Dystrophy…
#apaperaday: Bisphosphonates in Glucocorticoid-Treated Patients With Duchenne Muscular Dystrophy
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Bisphosphonates in Glucocorticoid-Treated Patients With Duchenne Muscular Dystrophy:…
#apaperaday: Pilot study of a virtual weight management program for Duchenne muscular dystrophy
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Pilot study of a virtual weight management program…
