Over the past decade, long-read, single-molecule DNA sequencing technologies have
emerged as powerful players in genomics. With the ability to generate reads tens to …

Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …

Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease
characterized by progressive ocular, facial, pharyngeal and distal limb muscle involvement …

Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized
by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar muscle weakness and …

Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …

Background Abnormal expanded GGC repeats within the NOTCH2HLC gene has been
confirmed as the genetic mechanism for most Asian patients with neuronal intranuclear …

Neuronal intranuclear inclusion disease (NIID), caused by an expansion of GGC repeats in
the 5′-untranslated region of NOTCH2NLC, is an important but underdiagnosed cause of …

Objective To determine whether the GGC repeats in the NOTCH2NLC gene contribute to
amyotrophic lateral sclerosis (ALS). Methods In this study, 545 patients with ALS and 1,305 …

Neuronal intranuclear inclusion disease (NIID) is a neuromuscular/neurodegenerative
disease caused by the expansion of CGG repeats in the 5′ untranslated region (UTR) of …