CGG Repeat Expansion in <i>NOTCH2NLC</i> Causing Overlapping Oculopharyngodistal Myopathy and Neuronal Intranuclear Inclusion Disease With Diffusion Weighted Imaging Abnormality in the Cerebellum-Reference-Cited by-同舟云学术

CGG Repeat Expansion in NOTCH2NLC Causing Overlapping Oculopharyngodistal Myopathy and Neuronal Intranuclear Inclusion Disease With Diffusion Weighted Imaging Abnormality in the Cerebellum

Published:2024 Issue: Volume:20 Page:
ISSN:1738-6586
Container-title:Journal of Clinical Neurology
language:en
Short-container-title:J Clin Neurol

Author:

Ma Jing¹²^ORCID,Zhang Huiqiu¹²^ORCID,Meng Bing³^ORCID,Qin Jiangbo⁴^ORCID,Liu Hongye⁵^ORCID,Pang Xiaomin¹^ORCID,Zhao Rongjuan¹^ORCID,Wang Juan¹^ORCID,Chang Xueli¹^ORCID,Guo Junhong¹^ORCID,Zhang Wei¹^ORCID

Affiliation:

1. Department of Neurology, The First Hospital of Shanxi Medical University, Taiyuan, China.

2. Department of Neurology, First Clinical Medical College, Shanxi Medical University, Taiyuan, China.

3. Department of Stomatology, The First Hospital of Shanxi Medical University, Taiyuan, China.

4. Department of Radiology, The First Hospital of Shanxi Medical University, Taiyuan, China.

5. Department of Dermatology, The First Hospital of Shanxi Medical University, Taiyuan, China.

Funder

Shanxi Provincial Science and Technology Department

Publisher

XMLink

Link

https://thejcn.com/pdf/10.3988/jcn.2023.0486

Reference30 articles.

1. Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis

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

3. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

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

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