The foundation of clinical research in Duchenne Muscular Dystrophy (DMD) is often dependent on a limited number of primary and secondary efficacy functional assessments. These […]
Background: D2.B10-Dmdmdx/J (DBA/2-congenic-D2-mdx) is a newer mouse strain developed at Jackson labs by backcrossing C57BL/10ScSn-Dmdmdx/J mice onto the DBA/2J background. We and others have shown […]
Building AAV vectors with type I myofiber specificity in a preclinical study on Nemaline myopathy. Nemaline myopathy (NM) is a non-dystrophic congenital myopathy. The hallmarks […]
Collagen VI-related dystrophies are a group of frequently severe, congenital muscular dystrophies for which there currently is no effective treatment. One of the most common […]
Congenital myasthenic syndromes (CMS) are a class of rare diseases that affect approximately 1:100,000 children, categorized by early onset diminished motor function due to dysfunction […]
Congenital myasthenic syndromes (CMS) are a class of rare genetic diseases that affect approximately 1:100,000 children. They are categorized by early onset diminished motor function […]
Therapeutic exon skipping as a treatment for Duchenne muscular dystrophy (DMD) has largely concentrated on delivery of antisense oligomers to treat out-of-frame exon deletions. Here […]
Background: Duchenne muscular dystrophy (DMD) is caused by DMD frameshift mutations leading to a lack of dystrophin protein. Phosphorodiamidate morpholino oligomers (PMOs) restore the DMD […]
Background: Myotonic dystrophy (DM) is a multi-systemic genetic disorder caused by CUG/CCUG repeat RNAs that sequester MBNL RNA binding proteins. In addition to skeletal muscle […]