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 …

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

Background and purpose The GGC repeat expansion in the NOTCH2NLC gene has been
identified as the genetic cause of neuronal intranuclear inclusion disease (NIID). Recently …

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 …

There are many reports suggesting an important role of genetic factors in the
etiopathogenesis of essential tremor (ET), encouraging continuing the research for possible …

Repeat expansions in genes other than C9orf72 and ATXN2 have been recently associated
with Amyotrophic Lateral Sclerosis (ALS). Indeed, an abnormal number of GGC repeats in …

Background: Neuronal intranuclear inclusion disease (NIID), caused by GGC (guanine-
guanine-cytosine) repeat expansion in NOTCH2NLC, has several clinical and radiological …

Genetic factors play a major role in essential tremor (ET) pathogenesis. This study aimed to
assess variant burden in ET-associated genes in a relatively large Chinese population …

目的对110 例特发性震颤(ET) 患者进行致病基因变异鉴定. 方法收集在北京协和医院神经内科
就诊的110 例ET 患者的临床资料并采集外周血, 从患者外周血中提取基因组DNA …

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease in which
intranuclear inclusions are widely observed in the central and peripheral nervous systems …