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 …

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

The human-specific gene NOTCH2NLC is primarily expressed in radial glial cells and plays
an important role in neuronal differentiation and cortical neurogenesis. Increasing studies …

Non-coding CGG repeat expansions cause multiple neurodegenerative disorders, including
fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease …

Due to the high clinical heterogeneity of neuronal intranuclear inclusion disease (NIID), it is
easy to misdiagnose this condition and is considered to be a rare progressive …

Tandem Repeats (TR) occupy a significant portion of the human genome and are the source
of polymorphism due to variations in sizes and motif compositions. Some of these variations …

Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …

The NOTCH2NLC gene 5′ untranslated region (UTR) GGC repeat expansion mutations
were identified as a genetic contributor of neuronal intranuclear inclusion disease (NIID) in …

Long-read sequencing (LRS) technologies have been recently introduced to overcome
intrinsic limitations of widely-used next-generation sequencing (NGS) technologies, namely …