A common mutation ( 1267delG) in congenital myasthenic patients of Gypsy ethnic origin-Reference-Cited by-同舟云学术

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A common mutation ( 1267delG) in congenital myasthenic patients of Gypsy ethnic origin

Published:1999-10-22 Issue:7 Volume:53 Page:1564-1564
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Abicht A.,Stucka R.,Karcagi V.,Herczegfalvi A.,Horvath R.,Mortier W.,Schara U.,Ramaekers V.,Jost W.,Brunner J.,Jan en G.,Seidel U.,Schlotter B.,Muller-Felber W.,Pongratz D.,Rudel R.,Lochmuller H.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Cited by 91 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. Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit;Journal of Neuromuscular Diseases;2024-09-03

2. Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes;Nature Communications;2024-02-28

3. Congenital myasthenic syndromes;Handbook of Clinical Neurology;2024

4. Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up;Biomedicines;2023-11-06

5. Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort;Brain;2023-09-18

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