Literature DB >> 8395161

Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release.

T J Walls1, A G Engel, A S Nagel, C M Harper, V F Trastek.   

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Year:  1993        PMID： 8395161     DOI： 10.1111/j.1749-6632.1993.tb22930.x

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


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  12 in total

1.  DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.

Authors:  Duygu Selcen; Xin-Ming Shen; Joan Brengman; Ying Li; Anthony A Stans; Eric Wieben; Andrew G Engel
Journal:  Neurology       Date:  2014-04-23       Impact factor: 9.910

2.  Technical report: exploring the basis of congenital myasthenic syndromes in an undergraduate course, using the model organism, Caenorhabditis elegans.

Authors:  Bonnie Kaas; Avinash R Vaidya; Amanda Leatherman; Stephanie Schleidt; Rebecca Eustance Kohn
Journal:  Invert Neurosci       Date:  2010-04-30

3.  Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia.

Authors:  Teerin Liewluck; Xin-Ming Shen; Margherita Milone; Andrew G Engel
Journal:  Neuromuscul Disord       Date:  2011-04-08       Impact factor: 4.296

4.  PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.

Authors:  Luc Régal; Xin-Ming Shen; Duygu Selcen; Chantal Verhille; Sandra Meulemans; John W M Creemers; Andrew G Engel
Journal:  Neurology       Date:  2014-03-07       Impact factor: 9.910

Review 5.  Current status of the congenital myasthenic syndromes.

Authors:  Andrew G Engel
Journal:  Neuromuscul Disord       Date:  2011-11-21       Impact factor: 4.296

6.  Identification of neuromuscular junctions by correlative confocal and transmission electron microscopy.

Authors:  Shannon Modla; Janet Mendonca; Kirk J Czymmek; Robert E Akins
Journal:  J Neurosci Methods       Date:  2010-06-25       Impact factor: 2.390

Review 7.  Congenital myasthenic syndromes in 2012.

Authors:  Andrew G Engel
Journal:  Curr Neurol Neurosci Rep       Date:  2012-02       Impact factor: 5.081

Review 8.  Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.

Authors:  Kinji Ohno; Andrew G Engel
Journal:  Curr Neurol Neurosci Rep       Date:  2002-01       Impact factor: 5.081

Review 9.  The therapy of congenital myasthenic syndromes.

Authors:  Andrew G Engel
Journal:  Neurotherapeutics       Date:  2007-04       Impact factor: 7.620

Review 10.  Congenital Myasthenic Syndromes in 2018.

Authors:  Andrew G Engel
Journal:  Curr Neurol Neurosci Rep       Date:  2018-06-12       Impact factor: 5.081
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