Literature DB >> 2443341

Congenital myasthenic syndromes.

A G Engel1, E H Lambert.   

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Year:  1987        PMID： 2443341

Source DB:  PubMed          Journal:  Electroencephalogr Clin Neurophysiol Suppl        ISSN： 0424-8155


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  7 in total

1.  Functional consequences and structural interpretation of mutations of human choline acetyltransferase.

Authors:  Xin-Ming Shen; Thomas O Crawford; Joan Brengman; Gyula Acsadi; Susan Iannaconne; Emin Karaca; Chaouky Khoury; Jean K Mah; Shimon Edvardson; Zeljko Bajzer; David Rodgers; Andrew G Engel
Journal:  Hum Mutat       Date:  2011-09-23       Impact factor: 4.878

2.  Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.

Authors:  Juan Arredondo; Marian Lara; Sídney M Gospe; Claudio G Mazia; Maria Vaccarezza; Marcela Garcia-Erro; Constance M Bowe; Celia H Chang; Michelle M Mezei; Ricardo A Maselli
Journal:  Hum Mutat       Date:  2015-07-24       Impact factor: 4.878

3.  Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.

Authors:  K Ohno; A Tsujino; J M Brengman; C M Harper; Z Bajzer; B Udd; R Beyring; S Robb; F J Kirkham; A G Engel
Journal:  Proc Natl Acad Sci U S A       Date:  2001-02-13       Impact factor: 11.205

4.  Repetitive compound muscle action potentials in electrophysiological diagnosis of congenital myasthenic syndromes: a case report and review of literature.

Authors:  R Shiva Kumar; Abraham Kuruvilla
Journal:  Ann Indian Acad Neurol       Date:  2010-04       Impact factor: 1.383

5.  Myasthenic syndrome caused by mutation of the SCN4A sodium channel.

Authors:  Akira Tsujino; Chantal Maertens; Kinji Ohno; Xin-Ming Shen; Taku Fukuda; C Michael Harper; Stephen C Cannon; Andrew G Engel
Journal:  Proc Natl Acad Sci U S A       Date:  2003-05-23       Impact factor: 11.205

Review 6.  What have we learned from the congenital myasthenic syndromes.

Authors:  Andrew G Engel; Xin-Ming Shen; Duygu Selcen; Steven M Sine
Journal:  J Mol Neurosci       Date:  2009-08-18       Impact factor: 3.444

7.  Chaperone-Mediated Regulation of Choline Acetyltransferase Protein Stability and Activity by HSC/HSP70, HSP90, and p97/VCP.

Authors:  Trevor M Morey; Warren Winick-Ng; Claudia Seah; R Jane Rylett
Journal:  Front Mol Neurosci       Date:  2017-12-12       Impact factor: 5.639
  7 in total

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