Innovations in epitranscriptomics have resulted in the identification of more than 160 RNA
modifications to date. These developments, together with the recent discovery of writers …

Tandem microsatellite repeats are common throughout the human genome and intrinsically
unstable, exhibiting expansions and contractions both somatically and across generations …

Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative
diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis …

Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart
dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting …

Abstract Myotonic dystrophy type 2 (DM2) is a tetranucleotide CCTG repeat expansion
disease associated with an increased prevalence of autoimmunity. Here, we identified an …

Myotonic dystrophy type 1 (DM1) and 2 (DM2) are autosomal dominant degenerative
neuromuscular disorders characterized by progressive skeletal muscle weakness, atrophy …

Myotonic dystrophies (DM) are the most common muscular dystrophies in adults, which can
affect other non-skeletal muscle organs such as the heart, brain and gastrointestinal system …

Myotonic dystrophy is an inherited systemic disorder affecting skeletal muscle and the heart.
Genetic testing for myotonic dystrophy is diagnostic and identifies those at risk for cardiac …

The neuromuscular junction (NMJ) is a specialized cholinergic synaptic interface between a
motor neuron and a skeletal muscle fiber that translates presynaptic electrical impulses into …

Generation of skeletal muscle cells with human pluripotent stem cells (hPSCs) opens new
avenues for deciphering essential, but poorly understood aspects of transcriptional …