Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits-Reference-Cited by-同舟云学术

Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits

Published:2015-01 Issue:1 Volume:25 Page:60-69
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Azuma Yoshiteru,Nakata Tomohiko,Tanaka Motoki,Shen Xin-Ming^ORCID,Ito Mikako,Iwata Satoshi,Okuno Tatsuya,Nomura Yoshiko,Ando Naoki,Ishigaki Keiko,Ohkawara Bisei,Masuda Akio,Natsume Jun,Kojima Seiji,Sokabe Masahiro^ORCID,Ohno Kinji

Funder

MEXT

MHLW

Publisher

Elsevier BV

Subject

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

Reference38 articles.

1. Identification of a motif in the acetylcholine receptor beta subunit whose phosphorylation regulates rapsyn association and postsynaptic receptor localization;Borges;J Neurosci,2008

2. New insights into the roles of agrin;Bezakova;Nat Rev Mol Cell Biol,2003

3. Wnt signaling during synaptic development and plasticity;Budnik;Curr Opin Neurobiol,2011

4. WNTs tune up the neuromuscular junction;Korkut;Nat Rev Neurosci,2009

5. Congenital myasthenic syndromes – molecular bases of congenital defects of proteins at the neuromuscular junction;Ohno,2012

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