A population-based screen to determine the genetic frequency of myotonic dystrophy (DM)
is technically feasible but has not yet been performed on a large scale. The most ambitious …

Disorders characterized by expansion of an unstable nucleotide repeat account for a
number of inherited neurological diseases. Here, we review examples of unstable repeat …

Objective To develop RNA splicing biomarkers of disease severity and therapeutic response
in myotonic dystrophy type 1 (DM1) and type 2 (DM2). Methods In a discovery cohort, we …

Excluding the ribosome and riboswitches, developing small molecules that selectively target
RNA is a longstanding problem in chemical biology. A typical cellular RNA is difficult to …

Discrete and punctate nuclear RNA foci are characteristic molecular hallmarks of
pathogenesis in myotonic dystrophy type 1 and type 2. Intranuclear RNA inclusions of …

Transcription of expanded microsatellite repeats is associated with multiple human
diseases, including myotonic dystrophy, Fuchs endothelial corneal dystrophy, and C9orf72 …

Antisense oligonucleotides (ASOs) targeting pathologic RNAs have shown promising
therapeutic corrections for many genetic diseases including myotonic dystrophy (DM1) …

This review presents detailed information about the structure of triplet repeat RNA and
addresses the simple sequence repeats of normal and expanded lengths in the context of …

Myotonic dystrophy (DM) is a dominantly-inherited genetic disorder affecting skeletal
muscle, heart, brain, and other organs. DM type 1 is caused by expansion of a CTG triplet …

CRISPR/Cas9 is an attractive platform to potentially correct dominant genetic diseases by
gene editing with unprecedented precision. In the current proof-of-principle study, we …