Literature DB >> 12807980

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.

P Richard1, K Gaudon, F Andreux, E Yasaki, C Prioleau, S Bauché, A Barois, C Ioos, M Mayer, M C Routon, M Mokhtari, J P Leroy, E Fournier, B Hainque, J Koenig, M Fardeau, B Eymard, D Hantaï.   

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Year:  2003        PMID： 12807980      PMCID： PMC1735489          DOI： 10.1136/jmg.40.6.e81

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


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  7 in total

1.  Fatigue in Rapsyn-Deficient Zebrafish Reflects Defective Transmitter Release.

Authors:  Hua Wen; Jeffrey Michael Hubbard; Wei-Chun Wang; Paul Brehm
Journal:  J Neurosci       Date:  2016-10-19       Impact factor: 6.167

2.  Common founder effect of rapsyn N88K studied using intragenic markers.

Authors:  Vanessa Dunne; Ricardo A Maselli
Journal:  J Hum Genet       Date:  2004-06-08       Impact factor: 3.172

3.  Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

Authors:  M Milone; X M Shen; D Selcen; K Ohno; J Brengman; S T Iannaccone; C M Harper; A G Engel
Journal:  Neurology       Date:  2009-07-21       Impact factor: 9.910

4.  Regulation of the rapsyn promoter by kaiso and delta-catenin.

Authors:  Marianna Rodova; Kevin F Kelly; Michael VanSaun; Juliet M Daniel; Michael J Werle
Journal:  Mol Cell Biol       Date:  2004-08       Impact factor: 4.272

5.  Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress.

Authors:  Valentina Imperatore; Maria Antonietta Mencarelli; Chiara Fallerini; Laura Bianciardi; Francesca Ariani; Simone Furini; Alessandra Renieri; Francesca Mari; Elisa Frullanti
Journal:  Int J Mol Sci       Date:  2016-02-27       Impact factor: 5.923

6.  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

7.  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
  7 in total

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