Literature DB >> 8357189

Congenital myasthenic syndrome attributed to an abnormal interaction of acetylcholine with its receptor.

O Uchitel1, A G Engel, T J Walls, A Nagel, V Bril, V F Trastek.   

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Year:  1993        PMID： 8357189     DOI： 10.1111/j.1749-6632.1993.tb22932.x

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


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  3 in total

1.  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

2.  Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating.

Authors:  Steven M Sine; Xing-Ming Shen; Hai-Long Wang; Kinji Ohno; Won-Yong Lee; Akira Tsujino; Joan Brengmann; Nina Bren; Jiri Vajsar; Andrew G Engel
Journal:  J Gen Physiol       Date:  2002-10       Impact factor: 4.086

3.  Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia.

Authors:  Andrew G Engel; Duygu Selcen; Xin-Ming Shen; Margherita Milone; C Michel Harper
Journal:  Neurol Genet       Date:  2016-09-08
  3 in total

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