GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy-Reference-Cited by-同舟云学术

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GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy

Published:2021-05-04 Issue:6 Volume:8 Page:1330-1342
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Yu Jiaxi¹²,Luan Xing‐hua³,Yu Meng¹²^ORCID,Zhang Wei¹²,Lv He¹²,Cao Li³^ORCID,Meng Lingchao¹²,Zhu Min⁴,Zhou Binbin⁴,Wu Xiao‐rong⁴,Li Pidong⁵^ORCID,Gang Qiang¹²,Liu Jing¹²,Shi Xin¹²,Liang Wei¹²,Jia Zhirong¹²,Yao Sheng⁶,Yuan Yun¹²,Deng Jianwen¹²,Hong Daojun⁴^ORCID,Wang Zhaoxia¹²^ORCID

Affiliation:

1. Department of Neurology Peking University First Hospital Beijing100034China

2. Beijing Key Laboratory of Neurovascular Disease Discovery Beijing100034China

3. Department of Neurology Shanghai Jiao Tong University Affiliated Sixth People's Hospital Shanghai200030China

4. Department of Neurology The First Affiliated Hospital of Nanchang University Nanchang330006China

5. Grandomics Biosciences Beijing100176China

6. Department of Neurology Sixth Medical Center of PLA General Hospital Beijing100853China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51371

Reference34 articles.

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

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

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

4. Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease

5. Neuronal intranuclear hyaline inclusion disease

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1. The evolving spectrum of complex inherited neuropathies;Current Opinion in Neurology;2024-07-31

2. Advances on the Mechanisms and Therapeutic Strategies in Non-coding CGG Repeat Expansion Diseases;Molecular Neurobiology;2024-05-23

3. Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications;Nature Reviews Genetics;2024-03-11

4. Nerve conduction features may serve as a diagnostic clue for neuronal intranuclear inclusion disease;Brain Communications;2024

5. CGG Repeat Expansion in NOTCH2NLC Causing Overlapping Oculopharyngodistal Myopathy and Neuronal Intranuclear Inclusion Disease With Diffusion Weighted Imaging Abnormality in the Cerebellum;Journal of Clinical Neurology;2024

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