Mutations inGMPPBcause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies-Reference-Cited by-同舟云学术

Mutations inGMPPBcause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Published:2015-06-30 Issue:9 Volume:138 Page:2493-2504
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:Brain

Author:

Belaya Katsiaryna,Rodríguez Cruz Pedro M.,Liu Wei Wei,Maxwell Susan,McGowan Simon,Farrugia Maria E.,Petty Richard,Walls Timothy J.,Sedghi Maryam,Basiri Keivan,Yue Wyatt W.,Sarkozy Anna,Bertoli Marta,Pitt Matthew,Kennett Robin,Schaefer Andrew,Bushby Kate,Parton Matt,Lochmüller Hanns,Palace Jacqueline,Muntoni Francesco,Beeson David

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/138/9/2493/13800333/awv185.pdf

Reference29 articles.

1. A method and server for predicting damaging missense mutations

2. Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

3. Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

4. A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

5. Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy

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