Literature DB >> 7689310

The investigation of congenital myasthenic syndromes.

A G Engel1.   

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Year:  1993        PMID： 7689310     DOI： 10.1111/j.1749-6632.1993.tb22927.x

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


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  13 in total

1.  Antibodies to acetylcholine receptors in patients with different clinical forms of myasthenia and Lambert-Eaton myasthenic syndrome.

Authors:  D V Sidnev; M Yu Karganov; N I Shcherbakova; I B Alchinova; A G Sanadze
Journal:  Neurosci Behav Physiol       Date:  2007-02

2.  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

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

5.  Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.

Authors:  Kinji Ohno; Andrew G Engel; Xin-Ming Shen; Duygu Selcen; Joan Brengman; C Michel Harper; Akira Tsujino; Margherita Milone
Journal:  Am J Hum Genet       Date:  2002-01-14       Impact factor: 11.025

6.  GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.

Authors:  Duygu Selcen; Xin-Ming Shen; Margherita Milone; Joan Brengman; Kinji Ohno; Feza Deymeer; Richard Finkel; Julie Rowin; Andrew G Engel
Journal:  Neurology       Date:  2013-06-21       Impact factor: 9.910

Review 7.  Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.

Authors:  Andrew G Engel; Xin-Ming Shen; Duygu Selcen; Steven M Sine
Journal:  Lancet Neurol       Date:  2015-04       Impact factor: 44.182

8.  Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

Authors:  Duygu Selcen; Margherita Milone; Xin-Ming Shen; C Michel Harper; Anthony A Stans; Eric D Wieben; Andrew G Engel
Journal:  Ann Neurol       Date:  2008-07       Impact factor: 10.422

Review 9.  The therapy of congenital myasthenic syndromes.

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

10.  Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.

Authors:  Duygu Selcen; Bisei Ohkawara; Xin-Ming Shen; Kathleen McEvoy; Kinji Ohno; Andrew G Engel
Journal:  JAMA Neurol       Date:  2015-08       Impact factor: 18.302
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