Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation-Reference-Cited by-同舟云学术

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Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation

Published:2022-01-03 Issue:2 Volume:12 Page:
ISSN:2162-3279
Container-title:Brain and Behavior
language:en
Short-container-title:Brain and Behavior

Author:

Jiang Kaiyan¹,Zheng Yilei¹,Lin Jing¹²,Wu Xiaorong³,Yu Yanyan¹,Zhu Min¹²,Fang Xin¹²,Zhou Meihong¹,Li Xiaobing¹,Hong Daojun¹²^ORCID

Affiliation:

1. Department of Neurology The First Affiliated Hospital of Nanchang University Nanchang China

2. Department of Medical Genetics The First Affiliated Hospital of Nanchang University Nanchang China

3. Department of Ophthalmology The First Affiliated Hospital of Nanchang University Nanchang China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Behavioral Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/brb3.2469

Reference35 articles.

1. Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

2. Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

3. Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

4. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

5. Congenital Myasthenic Syndromes: a Clinical and Treatment Approach

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation;Neuropathology and Applied Neurobiology;2024-01-21

2. Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1 -Related Congenital Myasthenic Syndrome;Neurology Genetics;2023-12

3. Splicing regulation of GFPT1 muscle-specific isoform and its roles in glucose metabolisms and neuromuscular junction;iScience;2023-10

4. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review;International Journal of Molecular Sciences;2023-02-13

5. GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing;Journal of Neuromuscular Diseases;2022-07-01

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