A case of neuronal intranuclear inclusion disease (NIID) presenting with hydrocephalus-like clinical features: case report

Authors: Yonghong Wang, Yongxiang Li, Wei Pan, Yuezhen Shen, Junxia Li, Ying Liu, Yuhua Peng, Shulai Zhu

Source: BMC Neurology, Vol 25, Iss 1, Pp 1-6 (2025)

Subject Terms: Neuronal intranuclear inclusion disease, Hydrocephalus-like MRI imaging, NOTCH2NLC gene, Case report, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2377

Access URL: https://doaj.org/article/2e8782e7b7b143129ec05dd0d4b94b6c

A case report of neuronal intranuclear inclusion disease and literature review

Authors: Jie Li, Guogao Zhang, Jianrong Zheng, Jun Hu, Yunong Li

Source: BMC Neurology, Vol 24, Iss 1, Pp 1-11 (2024)

Subject Terms: Neuronal intranuclear inclusion disease, Autoimmune encephalitis, NOTCH2NLC gene, Neurodegenerative disease, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2377

Access URL: https://doaj.org/article/8a6e7de199f346e193a6015f3dab6ccf

Neuronal Intranuclear Inclusion Disease Presenting with Acute-Onset Dementia and Cortical Edema: A Case Report

Authors: Xiao Feng, Yue Li, Qin Zhao, Shabei Xu

Source: Frontiers in Neurology, Vol 15 (2024)

Subject Terms: neuronal intranuclear inclusion disease, dementia, magnetic resonance imaging, NOTCH2NLC gene, neurodegenerative disease, case report, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1464991/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/9e50313832c84296a9cfb6f3ba2911e6

Expression of expanded GGC repeats within NOTCH2NLC causes cardiac dysfunction in mouse models

Authors: Yongcheng Pan, Ying Jiang, Juan Wan, Zhengmao Hu, Hong Jiang, Lu Shen, Beisha Tang, Yun Tian, Qiong Liu

Source: Cell & Bioscience, Vol 13, Iss 1, Pp 1-16 (2023)

Subject Terms: NOTCH2NLC gene, GGC repeat expansion, NOTCH2NLC-polyG inclusions, Cardiomyocyte, Cardiac dysfunction, Mitochondria, Biotechnology, TP248.13-248.65, Biology (General), QH301-705.5, Biochemistry, QD415-436

File Description: electronic resource

Relation: https://doaj.org/toc/2045-3701

Access URL: https://doaj.org/article/8767305a81f74d1291f3120b40d47fd2

Clinical features of neuronal intranuclear inclusion disease with seizures: a systematic literature review

Authors: Jinwei Zhang, Ling Ling, Lei Xiang, Wenxia Li, Pengnan Bao, Wei Yue

Source: Frontiers in Neurology, Vol 15 (2024)

Subject Terms: neuronal intranuclear inclusion disease, seizure, diagnosis, prognosis, NOTCH2NLC gene, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1387399/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/ae1f2b457bb34f87a793e1ecacbdfbd4

Adult-onset neuronal intranuclear inclusion disease related retinal degeneration: a Chinese case series

Authors: Chaoyi Feng, Qian Chen, Xinghua Luan, Ping Sun, Yuwen Cao, Jingying Wu, Shige Wang, Xinghuai Sun, Li Cao, Guohong Tian

Source: Frontiers in Medicine, Vol 11 (2024)

Subject Terms: neuronal intranuclear inclusion disease, NOTCH2NLC gene, retinal dystrophy, optical coherence tomography, fundus autofluorescence, pupilometer, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1188193/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/3b6a2c7ee2f74422a920d4a3343725e5

Sporadic adult-onset neuronal intranuclear inclusion disease without high-intensity signal on DWI and T2WI: a case report

Authors: Hongfen Wang, Feng Feng, Jiajin Liu, Jianwen Deng, Jiongming Bai, Wei Zhang, Luning Wang, Baixuan Xu, Xusheng Huang

Source: BMC Neurology, Vol 22, Iss 1, Pp 1-5 (2022)

Subject Terms: Neuronal intranuclear inclusion disease, Diffusion-weighted imaging, NOTCH2NLC gene, Skin biopsy, Case report, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2377

Access URL: https://doaj.org/article/27e4b25506fd4f70b8b94f1fc4608e51

A case report of neuronal intranuclear inclusion disease with paroxysmal peripheral neuropathy-like onset lacking typical signs on diffusion-weighted imaging

Authors: Jiayu Fu, Chen Zhao, Guanghao Hou, Xiaoxuan Liu, Mei Zheng, Yingshuang Zhang, Shuo Zhang, Danfeng Zheng, Yixuan Zhang, Xiao Huang, Shan Ye, Dongsheng Fan

Source: Frontiers in Neurology, Vol 14 (2023)

Subject Terms: neuronal intranuclear inclusion disease, peripheral neuropathy, NOTCH2NLC gene, skin biopsy, neurodegenerative disease, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1117243/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/1d22e4b3e1604f4aab20d4842ffbcf15

Case report: Two siblings with neuronal intranuclear inclusion disease exhibiting distinct clinicoradiological findings

Authors: Yutao Liu, Li Zeng, Yanpeng Yuan, Yangyang Wang, Kai Chen, Yan Chen, Jiaying Bai, Feng Xiao, Yuming Xu, Jing Yang, Song Tan

Source: Frontiers in Neurology, Vol 13 (2022)

Subject Terms: neuronal intranuclear inclusion disease, mitochondrial encephalopathy, ribbon sign, NOTCH2NLC gene, siblings, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1013213/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/294682cd0e524d9cad972487ddcdd095

Urine cytological study in patients with clinicopathologically confirmed neuronal intranuclear inclusion disease

Authors: Yiyi Zhou, Pengcheng Huang, Zhaojun Huang, Yun Peng, Yilei Zheng, Yaqing Yu, Min Zhu, Jianwen Deng, Zhaoxia Wang, Daojun Hong

Source: Frontiers in Aging Neuroscience, Vol 14 (2022)

Subject Terms: neuronal intranuclear inclusion disease, skin biopsy, urine cytology, NOTCH2NLC gene, pathological diagnosis, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnagi.2022.977604/full; https://doaj.org/toc/1663-4365

Access URL: https://doaj.org/article/7bd7decda83740a1b07a40322d0128ed

Case Report: Neuronal Intranuclear Inclusion Disease With Oromandibular Dystonia Onset

Authors: Wei-Ping Deng, Zhao Yang, Xiao-Jun Huang, Jing-Wen Jiang, Xing-Hua Luan, Li Cao

Source: Frontiers in Neurology, Vol 12 (2021)

Subject Terms: neuronal intranuclear inclusion disease, oromandibular dystonia, skin biopsy, NOTCH2NLC gene, clinical manifestations, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.618595/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/6eb35e19b28e47ff9a2b95e63a056258

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