Antisense oligonucleotides (ASOs) hold promise for gene-specific knockdown in diseases
that involve RNA or protein gain-of-function effects. In the hereditary degenerative disease …

In many repeat diseases, such as Huntington’s disease (HD), ongoing repeat expansions in
affected tissues contribute to disease onset, progression and severity. Inducing contractions …

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 …

Myotonic dystrophy (DM) is a genetic disorder caused by the expression (as RNA) of
expanded CTG or CCTG repeats. The alternative splicing factor MBNL1 is sequestered to the …

Myotonic dystrophy type 1 (DM1) is a debilitating multisystemic disorder caused by a CTG
repeat expansion in the DMPK gene. Aberrant splicing of several genes has been reported to …

Myotonic dystrophy type 1 and type 2 (DM1 and DM2) are genetic diseases in which mutant
transcripts containing expanded CUG or CCUG repeats cause cellular dysfunction by …

Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded
CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative …

Myotonic dystrophy (DM1) affects multiple organs, shows age-dependent progression and
is caused by CTG expansions at the DM1 locus. We determined the DM1 CpG methylation …

Myotonic dystrophy type 1 (DM1) is a triplet repeating disorder caused by expanded CTG
repeats in the 3′-untranslated region of the dystrophia myotonica protein kinase (DMPK) gene…

More than 12 neurogenetic disorders are caused by unstable expansions of (CTG)•(CAG)
repeats. The expanded repeats are unstable in germline and somatic cells, with potential …