Literature DB >> 30282768

Neuronal intranuclear inclusion disease showing intranuclear inclusions in renal biopsy 12 years earlier.

Mikiko Motoki1, Hideto Nakajima2, Tomoe Sato1, Mari Tada1, Akiyoshi Kakita1, Shigeki Arawaka1.   

Abstract

Mesh:

Year:  2018        PMID: 30282768     DOI: 10.1212/WNL.0000000000006480

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


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  8 in total

1.  CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model.

Authors:  Jiaxi Yu; Tongling Liufu; Yilei Zheng; Jin Xu; Lingchao Meng; Wei Zhang; Yun Yuan; Daojun Hong; Nicolas Charlet-Berguerand; Zhaoxia Wang; Jianwen Deng
Journal:  Proc Natl Acad Sci U S A       Date:  2022-10-03       Impact factor: 12.779

2.  NOTCH2NLC-related oculopharyngodistal myopathy type 3 complicated with focal segmental glomerular sclerosis: a case report.

Authors:  Guang Ji; Yuan Zhao; Jian Zhang; Hui Dong; Hongran Wu; Xian Chen; Xiaoming Qi; Yun Tian; Lu Shen; Guofeng Yang; Xueqin Song
Journal:  BMC Neurol       Date:  2022-07-04       Impact factor: 2.903

Review 3.  The polyG diseases: a new disease entity.

Authors:  Tongling Liufu; Yilei Zheng; Jiaxi Yu; Yun Yuan; Zhaoxia Wang; Jianwen Deng; Daojun Hong
Journal:  Acta Neuropathol Commun       Date:  2022-05-31       Impact factor: 7.578

4.  Upstream open reading frame with NOTCH2NLC GGC expansion generates polyglycine aggregates and disrupts nucleocytoplasmic transport: implications for polyglycine diseases.

Authors:  Shaoping Zhong; Yangye Lian; Wenyi Luo; Rongkui Luo; Xiaoling Wu; Jun Ji; Yuan Ji; Jing Ding; Xin Wang
Journal:  Acta Neuropathol       Date:  2021-10-25       Impact factor: 17.088

5.  Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.

Authors:  Yun Tian; Jun-Ling Wang; Wen Huang; Sheng Zeng; Bin Jiao; Zhen Liu; Zhao Chen; Yujing Li; Ying Wang; Hao-Xuan Min; Xue-Jing Wang; Yong You; Ru-Xu Zhang; Xiao-Yu Chen; Fang Yi; Ya-Fang Zhou; Hong-Yu Long; Chao-Jun Zhou; Xuan Hou; Jun-Pu Wang; Bin Xie; Fan Liang; Zhuan-Yi Yang; Qi-Ying Sun; Emily G Allen; Andrew Mark Shafik; Ha Eun Kong; Ji-Feng Guo; Xin-Xiang Yan; Zheng-Mao Hu; Kun Xia; Hong Jiang; Hong-Wei Xu; Ran-Hui Duan; Peng Jin; Bei-Sha Tang; Lu Shen
Journal:  Am J Hum Genet       Date:  2019-06-06       Impact factor: 11.025

6.  Adult-onset neuronal intranuclear inclusion disease presenting with typical MRI changes.

Authors:  Xinsheng Han; Miao Han; Ning Liu; Jianke Xu; Yan Zhang; Yun Zhang; Daojun Hong; Wei Zhang
Journal:  Brain Behav       Date:  2019-11-20       Impact factor: 2.708

Review 7.  Clinical and mechanism advances of neuronal intranuclear inclusion disease.

Authors:  Yueqi Liu; Hao Li; Xuan Liu; Bin Wang; Hao Yang; Bo Wan; Miao Sun; Xingshun Xu
Journal:  Front Aging Neurosci       Date:  2022-09-13       Impact factor: 5.702

8.  Re-defining the clinicopathological spectrum of neuronal intranuclear inclusion disease.

Authors:  Hao Chen; Likui Lu; Bin Wang; Guiyun Cui; Xingqi Wang; Yujing Wang; Hafiz Khuram Raza; Yan Min; Keke Li; Yingying Cui; Zhigang Miao; Bo Wan; Miao Sun; Xingshun Xu
Journal:  Ann Clin Transl Neurol       Date:  2020-09-15       Impact factor: 4.511

  8 in total

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