Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China

Comprehensive techniques such as WGS and Nanopore LRS warrants the identifying of <i>GNE</i> variants. Patients with the non-catalytic <i>GNE</i> variant, c.620A>T, had a milder disease progression and later wheelchair use.

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Publication Details

Journal
Journal of Medical Genetics
Published
2024-09-27
DOI
https://doi.org/10.1136/jmg-2024-110149
Citations
7
Primary Topic
Chronic Lymphocytic Leukemia Research
Type
article
Field-Weighted Citation Impact
3.07

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article

Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China

Haishan Jiang, Xuen Yu, Yanyan Yu, Dongyue Yue et al.
7 citations
Journal of Medical Genetics
Chronic Lymphocytic Leukemia Research
3.07
article

Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China

Haishan Jiang, Xuen Yu, Yanyan Yu, Dongyue Yue, Yongsheng Zheng, Xueli Chang, Bochen Zhu, Xinghua Luan, Kexin Jiao, Huahua Zhong, Wenhua Zhu, Zhe Zhao, Jia Tao Song, Daojun Hong, Mingshi Gao, Jiahong Lu, Huan Yang, Jianying Xi, Pengfei Lin, Nachuan Cheng, Qing Ke, Sushan Luo, Zhang‐Yu Zou, Xuechun Chang, Jie Lin, Bitao Bu, Yue Li, Zhiqiang Wang, Ningning Wang, Tao Wang, Jihong Dong, Jialong Zhang, Xiaojie Zhang, Zhao Chongbo, Xiaoqing Lv, Meirong Liu, Qiuxiang Li, LingChun Liu, Xingyu Xia, Fangyuan Qian, Liang Wang
article en
7 citations

Abstract

Comprehensive techniques such as WGS and Nanopore LRS warrants the identifying of <i>GNE</i> variants. Patients with the non-catalytic <i>GNE</i> variant, c.620A>T, had a milder disease progression and later wheelchair use.

Journal of Medical GeneticsVol. 61(11)
Hebei Medical University (CN), Fujian Medical University (CN), Central South University (CN), Nanchang University (CN), Sun Yat-sen University (CN), Shanxi Medical University (CN), Fudan University (CN), Anhui University of Traditional Chinese Medicine (CN), Soochow University (CN), Third Hospital of Hebei Medical University (CN), First People's Hospital of Yunnan Province (CN), Zhongda Hospital Southeast University (CN), Chinese Institute for Brain Research (CN), First Affiliated Hospital of Fujian Medical University (CN), First Hospital of Shanxi Medical University (CN), National Clinical Research (US), Zhongshan Hospital (CN), The First Affiliated Hospital, Sun Yat-sen University (CN), Henan Provincial People's Hospital (CN), University of Minnesota Medical Center (US), Shanghai Sixth People's Hospital (CN), Shanghai Institute of Hematology (CN), First Affiliated Hospital of Soochow University (CN), Huashan Hospital (CN), Xiangya Hospital Central South University (CN), Tongji Hospital (CN), Qilu Hospital of Shandong University (CN), Shanghai Zhabei District Shibei Hospital (CN), Union Hospital (CN), First Affiliated Hospital of Nanchang University (CN), First Affiliated Hospital Zhejiang University (CN), Huazhong University of Science and Technology (CN), Southern Medical University (CN)
National Natural Science Foundation of China
Good health and well-being
Openalex Percentile: Top 8%
Chronic Lymphocytic Leukemia Research
3.07
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