Mechanism hypotheses for the electrophysiological manifestations of two cases of endplate acetylcholinesterase deficiency related congenital myasthenic syndrome-Reference-Cited by-同舟云学术

Mechanism hypotheses for the electrophysiological manifestations of two cases of endplate acetylcholinesterase deficiency related congenital myasthenic syndrome

Published:2018-02 Issue: Volume:48 Page:229-232
ISSN:0967-5868
Container-title:Journal of Clinical Neuroscience
language:en
Short-container-title:Journal of Clinical Neuroscience

Author:

Ding Qingyun,Shen Dongchao,Dai Yi,Hu Youfang,Guan Yuzhou,Liu Mingsheng,Cui Liying

Publisher

Elsevier BV

Subject

Physiology (medical),Neurology (clinical),Neurology,General Medicine,Surgery

Reference16 articles.

1. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment;Engel;Lancet Neurol,2015

2. Clinical features of the myasthenic syndrome arising from mutations in GMPPB;Rodriguez;J Neurol Neurosurg Psychiatry,2016

3. Congenital myasthenic syndrome type 19 is caused by mutations in COL13A1, encoding the atypical non-fibrillar collagen type XIII alpha1 chain;Logan;Am J Hum Genet,2015

4. Congenital myasthenic syndromes - genereviews® - NCBI bookshelf;Abicht;Gene,2012

5. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme;Ohno;Proc Natl Acad Sci U S A,1998

Cited by 6 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. COLQ-mutation congenital myasthenic syndrome in late adolescence: Case report and review of the literature;Heliyon;2023-09

2. Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations;Current Neuropharmacology;2023-07

3. A Pediatric Case of COLQ-Related Congenital Myasthenic Syndrome with Marked Fatigue;Children;2023-04-24

4. Two Congenital Myasthenic Syndrome Patients Due to Mutations in <i>COLQ</i> Gene and the Consequence Protein Defect Prediction;SSRN Electronic Journal;2022

5. Congenital myasthenic syndrome in China: genetic and myopathological characterization;Annals of Clinical and Translational Neurology;2021-03-23