A comprehensive study of clinicopathological and genetic features of neuronal intranuclear inclusion disease.
Minglei LiuYuan GaoYanpeng YuanXiaojing LiuYangyang WangLanjun LiXiaoyun ZhangChenyang JiangQingzhi WangYanlin WangChanghe ShiYuming XuJing YangPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2023)
We provide a novel nomogram with the potential to realize early identification and update the diagnostic flowchart for definitive diagnosis. Moreover, this is the first study to define the association between skin pathology and NOTCH2NLC genetics in NIID.