A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia-Reference-Cited by-同舟云学术

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Published:2013-01-09 Issue:1 Volume:8 Page:e53826
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Ben Ammar Asma,Soltanzadeh Payam,Bauché Stéphanie,Richard Pascale,Goillot Evelyne,Herbst Ruth,Gaudon Karen,Huzé Caroline,Schaeffer Laurent,Yamanashi Yuji,Higuchi Osamu,Taly Antoine,Koenig Jeanine,Leroy Jean-Paul,Hentati Fayçal,Najmabadi Hossein,Kahrizi Kimia,Ilkhani Manouchehr,Fardeau Michel,Eymard Bruno,Hantaï Daniel

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference48 articles.

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2. LRP4 serves as a coreceptor of agrin;B Zhang;Neuron,2008

3. Agrin binds to the N-terminal region of Lrp4 protein and stimulates association between Lrp4 and the first immunoglobulin-like domain in muscle-specific kinase (MuSK);W Zhang;J Biol Chem,2010

4. Distinct protein components from Torpedo marmorata membranes carry the acetylcholine receptor site and the binding site for local anesthetics and histrionicotoxin;A Sobel;Proc Natl Acad Sci USA,1978

5. Neural agrin increases postsynaptic ACh receptor packing by elevating rapsyn protein at the mouse neuromuscular synapse;J Brockhausen;Dev Neurobiol,2008

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4. Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature;Journal of Personalized Medicine;2023-05-06

5. Case Report: Congenital Myasthenic Syndrome Presenting with Bilateral Vocal Cord Paralysis Caused by De-Novel Compound Heterozygous MUSK Mutation;Pharmacogenomics and Personalized Medicine;2023-04