Novel PLEC gene variants causing congenital myasthenic syndrome-Reference-Cited by-同舟云学术

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Novel PLEC gene variants causing congenital myasthenic syndrome

Published:2019-10-23 Issue:6 Volume:60 Page:
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Gonzalez Garcia Aixa¹,Tutmaher Michelle S.²,Upadhyayula Saila R.²,Sanchez Russo Rossana¹,Verma Sumit²

Affiliation:

1. Department of Human GeneticsEmory University School of Medicine Atlanta Georgia

2. Department of Pediatrics and NeurologyEmory University School of Medicine Atlanta Georgia

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.26703

Reference8 articles.

1. The many faces of plectin and plectinopathies: pathology and mechanisms

2. Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin

3. Myopathy, Myasthenic Syndrome, and Epidermolysis Bullosa Simplex Due to Plectin Deficiency

4. Myasthenic syndrome caused by plectinopathy

5. Stimulated jitter analysis for the evaluation of neuromuscular junction disorders in children

Cited by 10 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. Inter-alpha-trypsin inhibitor heavy chain H3 is a potential biomarker for disease activity in myasthenia gravis;Acta Neuropathologica;2024-06

2. Effects of Copy Number Variations in the Plectin (PLEC) Gene on the Growth Traits and Meat Quality of Leizhou Black Goats;Animals;2023-11-25

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

4. Mutation update: The spectra of PLEC sequence variants and related plectinopathies;Human Mutation;2022-07-29

5. Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre;Journal of Cellular and Molecular Medicine;2022-06-06

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