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Case report: Autoimmune nodopathy with concurrent serum and CSF IgG4 antineurofascin 155 antibodies.
Published in:
2022
By:
- Wanyu Wang;
- Lingchun Liu;
- Mingzhi Zhang;
- Ruihan Yang;
- Da Liu;
- Shunyu Yang;
- Qiang Meng
Publication type:
Case Study
Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.
Published in:
Muscle & Nerve, 2024, v. 69, n. 6, p. 708, doi. 10.1002/mus.28092
By:
- Jiao, Kexin;
- Cheng, Nachuan;
- Huan, Xiao;
- Zhang, Jialong;
- Ding, Yu;
- Luan, Xinghua;
- Liu, LingChun;
- Wang, Xilu;
- Zhu, Bochen;
- Du, Kunzhao;
- Fan, Jiale;
- Gao, Mingshi;
- Xia, Xingyu;
- Wang, Ningning;
- Wang, Tao;
- Xi, Jianying;
- Luo, Sushan;
- Lu, Jiahong;
- Zhao, Chongbo;
- Yue, Dongyue
Publication type:
Article
Diagnostic delay in late‐onset Pompe disease among Chinese patients: A retrospective study.
Published in:
Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 1, p. 39, doi. 10.1002/jmd2.12404
By:
- Yue, Dongyue;
- Jiao, Kexin;
- Xia, Xingyu;
- Zhang, Jialong;
- Zhu, Bochen;
- Liu, Lingchun;
- Du, Kunzhao;
- Gao, Mingshi;
- Cheng, Nachuan;
- Wang, Ningning;
- Luo, Sushan;
- Xi, Jianying;
- Lu, Jiahong;
- Zhao, Chongbo;
- Zhu, Wenhua
Publication type:
Article
COASY variant as a new genetic cause of riboflavin-responsive lipid storage myopathy.
Published in:
Cell Discovery, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41421-023-00641-0
By:
- Zheng, Yilei;
- Liufu, Tongling;
- Wen, Bing;
- Zhou, Chao;
- Liu, Lingchun;
- Qiu, Yusen;
- Zou, Wenquan;
- Zhang, Wei;
- Li, Yu;
- Pei, Jianfeng;
- Zeng, Yiheng;
- Chen, Wanjin;
- Zhang, Chunhua;
- Yuan, Yun;
- Wang, Guochun;
- Yan, Chuanzhu;
- Lu, Xin;
- Deng, Jianwen;
- Wang, Zhaoxia;
- Hong, Daojun
Publication type:
Article
Autoimmune nodopathy with anti-contactin 1 antibody characterized by cerebellar dysarthria: a case report and literature review.
Published in:
Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1308068
By:
- Jiajie Chen;
- Lingchun Liu;
- Hongyan Zhu;
- Jinming Han;
- Rong Li;
- Xiarong Gong;
- Hao Fu;
- Jingjing Long;
- Haixia Li;
- Qiang Meng
Publication type:
Article

Found: 5

Case report: Autoimmune nodopathy with concurrent serum and CSF IgG4 antineurofascin 155 antibodies.

Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.

Diagnostic delay in late‐onset Pompe disease among Chinese patients: A retrospective study.

COASY variant as a new genetic cause of riboflavin-responsive lipid storage myopathy.

Autoimmune nodopathy with anti-contactin 1 antibody characterized by cerebellar dysarthria: a case report and literature review.