Literature DB >> 22230109

186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands.

Amina Chaouch1, David Beeson, Daniel Hantaï, Hanns Lochmüller.   

Abstract

Entities:  

Mesh：

Year:  2012        PMID： 22230109     DOI： 10.1016/j.nmd.2011.12.004

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  15 in total

1.  An ocular motility conundrum.

Authors:  Elizabeth Margaret McElnea; Kirk Stephenson; Bernie Lanigan; Ian Flitcroft
Journal:  BMJ Case Rep       Date:  2014-10-27

2.  Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.

Authors:  Katsiaryna Belaya; Sarah Finlayson; Judith Cossins; Wei Wei Liu; Susan Maxwell; Jacqueline Palace; David Beeson
Journal:  Ann N Y Acad Sci       Date:  2012-12       Impact factor: 5.691

Review 3.  Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes.

Authors:  Charlotte Vrinten; Angeli M van der Zwaag; Stephanie S Weinreich; Rob J P M Scholten; Jan J G M Verschuuren
Journal:  Cochrane Database Syst Rev       Date:  2014-12-17

4.  Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.

Authors:  Sarah Finlayson; Jacqueline Palace; Katsiaryna Belaya; Timothy J Walls; Fiona Norwood; Georgina Burke; Janice L Holton; Samuel I Pascual-Pascual; Judith Cossins; David Beeson
Journal:  J Neurol Neurosurg Psychiatry       Date:  2013-02-27       Impact factor: 10.154

5.  Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

Authors:  Katsiaryna Belaya; Sarah Finlayson; Clarke R Slater; Judith Cossins; Wei Wei Liu; Susan Maxwell; Simon J McGowan; Siarhei Maslau; Stephen R F Twigg; Timothy J Walls; Samuel I Pascual Pascual; Jacqueline Palace; David Beeson
Journal:  Am J Hum Genet       Date:  2012-06-27       Impact factor: 11.025

6.  Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes.

Authors:  Henry Houlden
Journal:  Brain       Date:  2013-03       Impact factor: 13.501

7.  Ephedrine as add-on therapy for patients with myasthenia gravis: protocol for a series of randomised, placebo-controlled n-of-1 trials.

Authors:  Charlotte Vrinten; Alexander F Lipka; Erik W van Zwet; Kirsten J M Schimmel; Martina C Cornel; Marja R Kuijpers; Yechiel A Hekster; Stephanie S Weinreich; Jan J G M Verschuuren
Journal:  BMJ Open       Date:  2015-07-16       Impact factor: 2.692

8.  Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

Authors:  Judith Cossins; Katsiaryna Belaya; Debbie Hicks; Mustafa A Salih; Sarah Finlayson; Nicola Carboni; Wei Wei Liu; Susan Maxwell; Katarzyna Zoltowska; Golara Torabi Farsani; Steven Laval; Mohammed Zain Seidhamed; Peter Donnelly; David Bentley; Simon J McGowan; Juliane Müller; Jacqueline Palace; Hanns Lochmüller; David Beeson
Journal:  Brain       Date:  2013-02-11       Impact factor: 13.501

9.  Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.

Authors:  Keivan Basiri; Katsiaryna Belaya; Wei Wei Liu; Susan Maxwell; Maryam Sedghi; David Beeson
Journal:  Neuromuscul Disord       Date:  2013-04-13       Impact factor: 4.296

Review 10.  Inherited disorders of the neuromuscular junction: an update.

Authors:  Pedro M Rodríguez Cruz; Jacqueline Palace; David Beeson
Journal:  J Neurol       Date:  2014-10-11       Impact factor: 4.849
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