Prevalence and Characterization of <i>NOTCH2NLC</i> GGC Repeat Expansions in Koreans-Reference-Cited by-同舟云学术

Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans

Published:2024-06 Issue:3 Volume:10 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Lee Seungbok¹,Yoon Jihoon G.¹^ORCID,Hong Juhyeon¹^ORCID,Kim Taekeun¹^ORCID,Kim Narae¹,Vandrovcova Jana¹,Yau Wai Yan¹^ORCID,Cho Jaeso¹^ORCID,Kim Sheehyun¹,Kim Man Jin¹,Kim Soo Yeon¹,Lee Soon-Tae¹^ORCID,Chu Kon¹,Lee Sang Kun¹,Kim Han-Joon¹^ORCID,Choi Jungmin¹^ORCID,Moon Jangsup¹^ORCID,Chae Jong-Hee¹

Affiliation:

1. From the Department of Genomic Medicine (S.L., J.G.Y., Jaeso Cho, S.K., M.J.K., S.Y.K., J.M., J.-H.C.), Seoul National University Hospital; Department of Pediatrics (S.L., Jaeso Cho, S.Y.K., J.-H.C.), Seoul National University College of Medicine, Seoul National University Children's Hospital; Department of Biomedical Sciences (J.H., T.K., Jungmin Choi), Korea University College of Medicine; Department of Neurology (N.K., S.-T.L., K.C., S.K.L., H.-J.K., J.M.), Seoul National University Hospital,...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200147

Reference42 articles.

1. A light and electron microscopy study of an unusual widespread nuclear inclusion body disease

2. Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease

3. Clinicopathological features of adult-onset neuronal intranuclear inclusion disease

4. Teaching NeuroImages: The zigzag edging sign of adult-onset neuronal intranuclear inclusion disease

5. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

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1. Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans;Neurology Genetics;2024-08