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 …

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 …

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 …

Microsatellites are repeated DNA sequences of 3–6 nucleotides highly variable in length
and sequence and that have important roles in genomes regulation and evolution. However …

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

GGC repeat expansion in the 5′ untranslated region of NOTCH2NLC is the most common
causative factor in neuronal intranuclear inclusion disease (NIID) in Asians. Such expanded …

While whole genome sequencing and long-read sequencing have become widely available,
more and more focuses are on noncoding expanded repeats. Indeed, more than half of …

The retinal pathology of genetically confirmed neuronal intranuclear inclusion disease (NIID)
is yet unknown. We report the ocular findings in four NIID patients with NOTCH2NLC GGC …

Background GGC repeat expansions in NOTCH2NLC gene have been recently proposed to
cause neuronal intranuclear inclusion disease (NIID) via prevailing gain-of-function …