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Adult-Onset Neuronal Intranuclear Inclusion Disease: First Korean Case Confirmed by Skin Biopsy.

作者信息

Chun Min Young, Park Hee Kyung, Kim Geon Ha, Lee Seung Ah, Kim Soo Hyun, Sung Sun Hee, Park Yae Won, Jeong Jee Hyang

机构信息

Department of Neurology, Ewha Womans University Mokdong Hospital, Ewha Womans University College of Medicine, Seoul, Korea.

Department of Pathology, Ewha Womans University Mokdong Hospital, Ewha Womans University College of Medicine, Seoul, Korea.

出版信息

J Clin Neurol. 2020 Oct;16(4):720-722. doi: 10.3988/jcn.2020.16.4.720.

DOI:10.3988/jcn.2020.16.4.720
PMID:33029987
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7541984/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2fb/7541984/d854b5a91502/jcn-16-720-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2fb/7541984/d854b5a91502/jcn-16-720-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2fb/7541984/d854b5a91502/jcn-16-720-g001.jpg

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Neurol Genet. 2024 May 20;10(3):e200147. doi: 10.1212/NXG.0000000000200147. eCollection 2024 Jun.
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Longitudinal course of hyperintensity on diffusion weighted imaging in adult-onset neuronal intranuclear inclusion disease patients.

本文引用的文献

1
MRI diagnosis of neuronal intranuclear inclusion disease leukoencephalopathy.神经元核内包涵体病白质脑病的磁共振成像诊断
Neurol Clin Pract. 2019 Dec;9(6):497-499. doi: 10.1212/CPJ.0000000000000664.
2
Recent progress in neuronal intranuclear inclusion disease: a review of the literature.神经元核内包涵体病的研究进展：文献复习。
Neurol Sci. 2020 May;41(5):1019-1025. doi: 10.1007/s10072-019-04195-6. Epub 2020 Jan 2.
3
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
成人起病的神经元核内包涵体病患者扩散加权成像上高信号的纵向病程
Front Neurol. 2023 Jun 19;14:1178307. doi: 10.3389/fneur.2023.1178307. eCollection 2023.
4
Adult-onset neuronal nuclear inclusion disease presenting with mental and behavioral disorders: A case report and literature review.以精神和行为障碍为表现的成人起病型神经元核内包涵体病：1例报告及文献复习
Aging Med (Milton). 2022 Dec 20;5(4):297-302. doi: 10.1002/agm2.12237. eCollection 2022 Dec.
5
Genetic and Imaging Characteristics of a Family With Neuronal Intranuclear Inclusion Disease.一个患有神经元核内包涵体病的家族的遗传和影像学特征
J Clin Neurol. 2022 May;18(3):358-360. doi: 10.3988/jcn.2022.18.3.358.
长读测序鉴定出 NOTCH2NLC 中的 GGC 重复扩展与神经元核内包涵体病有关。
Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22.
4
Pathological background of subcortical hyperintensities on diffusion-weighted images in a case of neuronal intranuclear inclusion disease.神经元核内包涵体病一例中扩散加权图像上皮质下高信号的病理背景
Clin Neuropathol. 2016 Nov/Dec;35(6):375-380. doi: 10.5414/NP300961.
5
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease.皮肤活组织检查有助于神经元核内包涵体病的生前诊断。
Neurology. 2011 Apr 19;76(16):1372-6. doi: 10.1212/WNL.0b013e3182166e13. Epub 2011 Mar 16.