Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology
Reference99 articles.
1. Safety factor at the neuromuscular junction;Wood;Prog Neurobiol,2001
2. Myasthenic syndrome caused by mutation of the SCN4A sodium channel;Tsujino;Proc Natl Acad Sci USA,2003
3. Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients;Abicht;Hum Mutat,2014
4. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect;Senderek;Am J Hum Genet,2011
5. The array CGH and its clinical applications;Shinawi;Drug Discov Today,2008
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