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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Neuronal Intranuclear Inclusion Disease[original query]
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.
Annals of neurology 2019 Aug .
Okubo Masaki, Doi Hiroshi, Fukai Ryoko, Fujita Atsushi, Mitsuhashi Satomi, Hashiguchi Shunta, Kishida Hitaru, Ueda Naohisa, Morihara Keisuke, Ogasawara Akihiro, Kawamoto Yuko, Takahashi Tatsuya, Takahashi Keita, Nakamura Haruko, Kunii Misako, Tada Mikiko, Katsumoto Atsuko, Fukuda Hiromi, Mizuguchi Takeshi, Miyatake Satoko, Miyake Noriko, Suzuki Junichiro, Ito Yasuhiro, Sone Jun, Sobue Gen, Takeuchi Hideyuki, Matsumoto Naomichi, Tanaka Fumia
Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis.
Neurology 2020 9 95 (24): e3394-e3405.
Yuan Yanchun, Liu Zhen, Hou Xuan, Li Wanzhen, Ni Jie, Huang Ling, Hu Yiting, Liu Pan, Hou Xiaorong, Xue Jin, Sun Qiying, Tian Yun, Jiao Bin, Duan Ranhui, Jiang Hong, Shen Lu, Tang Beisha, Wang Junli
Neuronal intranuclear inclusion disease is genetically heterogeneous.
Annals of clinical and translational neurology 2020 8 7 (9): 1716-1725.
Chen Zhongbo, Yan Yau Wai, Jaunmuktane Zane, Tucci Arianna, Sivakumar Prasanth, Gagliano Taliun Sarah A, Turner Chris, Efthymiou Stephanie, Ibáñez Kristina, Sullivan Roisin, Bibi Farah, Athanasiou-Fragkouli Alkyoni, Bourinaris Thomas, Zhang David, Revesz Tamas, Lashley Tammaryn, DeTure Michael, Dickson Dennis W, Josephs Keith A, Gelpi Ellen, Kovacs Gabor G, Halliday Glenda, Rowe Dominic B, Blair Ian, Tienari Pentti J, Suomalainen Anu, Fox Nick C, Wood Nicholas W, Lees Andrew J, Haltia Matti J, , Hardy John, Ryten Mina, Vandrovcova Jana, Houlden Hen
Identification of expanded repeats in NOTCH2NLC in neurodegenerative dementias.
Neurobiology of aging 2020 2 89 142.e1-142.e7.
Jiao Bin, Zhou Lu, Zhou Yafang, Weng Ling, Liao Xinxin, Tian Yun, Guo Lina, Liu Xixi, Yuan Zhenhua, Xiao Xuewen, Jiang Yaling, Wang Xin, Yang Qijie, Li Chenping, Zhu Yuan, Zhou Lin, Zhang Weiwei, Wang Junling, Li Yu, Gu Wenping, Yang Jie, Xia Jian, Huang Qing, Yin Jun, Xue Jin, Duan Ranhui, Tang Beisha, Shen
NOTCH2NLC expanded GGC repeats in patients with cerebral small vessel disease.
Stroke and vascular neurology 2022 10 .
Wang Yun-Chao, Fan Yu, Yu Wen-Kai, Shen Si, Li Jia-Di, Gao Yuan, Ji Yan, Li Yu-Sheng, Yu Lu-Lu, Zhao Zi-Chen, Li Shan-Shan, Ding Yao, Shi Chang-He, Xu Yu-Mi
NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy.
Stroke 2023 3 .
Liao Yi-Chu, Wei Cheng-Yu, Chang Fu-Pang, Chou Ying-Tsen, Hsu Shao-Lun, Chung Chih-Ping, Mizuguchi Takeshi, Matsumoto Naomichi, Yet Shaw-Fang, Lee Yi-Chu
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