Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase-Reference-Cited by-同舟云学术

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase

Published:2003-03 Issue:3 Volume:13 Page:245-251
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Schmidt Carolin,Abicht Angela,Krampfl Klaus,Voss Wolfgang,Stucka Rolf,Mildner Gina,Petrova Sofia,Schara Ulrike,Mortier Wilhelm,Bufler Johannes,Huebner Angela,Lochmüller Hanns

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference21 articles.

1. Myasthenic syndromes;Engel,1994

2. Congenital myasthenic syndromes. Studies of the AChR and other candidate genes;Beeson;Ann N Y Acad Sci,1998

3. 73rd ENMC International Workshop: congenital myasthenic syndromes, 22–23 October, 1999, Naarden, The Netherlands;Engel;Neuromuscul Disord,2001

4. Molecular targets for autoimmune and genetic disorders of neuromuscular transmission;Vincent;Eur J Biochem,2000

5. Congenital myasthenic syndromes;Engel;Adv Neurol,2002

Cited by 41 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. Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series;Frontiers in Pediatrics;2024-01-18

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

3. A multidimensional computational exploration of congenital myasthenic syndrome causing mutations in human choline acetyltransferase;Journal of Cellular Biochemistry;2021-03

4. Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study;Frontiers in Human Neuroscience;2020-12-07

5. Congenital myasthenic syndromes;Orphanet Journal of Rare Diseases;2019-02-26