Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness-Reference-Cited by-同舟云学术

Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness

Published:2015-07-22 Issue:s2 Volume:2 Page:S21-S29
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
language:
Short-container-title:JND

Author:

Evangelista Teresinha¹,Hanna Mike²,Lochmüller Hanns¹

Affiliation:

1. John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK

2. UCL MRC Centre for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom

Publisher

IOS Press

Subject

Neurology (clinical),Neurology

Reference33 articles.

1. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect;Senderek;Am J Hum Genet,2011

2. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome withtubular aggregates;Belaya;Am J Hum Genet,2012

3. Congenital myasthenic syndromes due tomutations in ALG2 and ALG14;Cossins;Brain,2013

4. PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome;Régal;Neurology,2014

5. Congenital myasthenicsyndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: Astudy of 680 patients;Abicht;Hum Mutat,2012

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