Literature DB >> 15286164

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.

J S Müller, A Abicht, G Burke, J Cossins, P Richard, S K Baumeister, R Stucka, B Eymard, D Hantaï, D Beeson, H Lochmüller.   

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Year:  2004        PMID： 15286164      PMCID： PMC1735862          DOI： 10.1136/jmg.2004.021139

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.

Authors:  Thashi Chang; Judith Cossins; David Beeson
Journal:  BMC Neurol       Date:  2016-10-07       Impact factor: 2.474

2.  Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.

Authors:  Grace McMacken; Roger G Whittaker; Teresinha Evangelista; Angela Abicht; Marina Dusl; Hanns Lochmüller
Journal:  J Neurol       Date:  2017-11-30       Impact factor: 4.849

3.  No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome.

Authors:  Sima Parvizi Omran; Massod Houshmand; Donkor Dominic; Zahra Farjami; Parvaneh Karimzadeh
Journal:  Iran J Child Neurol       Date:  2019

4.  Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

Authors:  Julie Vogt; Benjamin J Harrison; Hayley Spearman; Judy Cossins; Sascha Vermeer; Lambert Naudin ten Cate; Neil V Morgan; David Beeson; Eamonn R Maher
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

5.  A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome.

Authors:  Guanglin Xing; Hongyang Jing; Lei Zhang; Yu Cao; Lei Li; Kai Zhao; Zhaoqi Dong; Wenbing Chen; Hongsheng Wang; Rangjuan Cao; Wen-Cheng Xiong; Lin Mei
Journal:  Elife       Date:  2019-09-24       Impact factor: 8.140
  5 in total

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