Literature DB >> 25895926

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.

A G Engel, X-M Shen, D Selcen, S M Sine.   

Abstract

Entities:  

Year:  2015        PMID： 25895926     DOI： 10.1016/S1474-4422(15)00010-1

Source DB:  PubMed          Journal:  Lancet Neurol        ISSN： 1474-4422            Impact factor:   44.182


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  24 in total

1.  A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.

Authors:  Mert Karakaya; Ozge Ceyhan-Birsoy; Alan H Beggs; Haluk Topaloglu
Journal:  J Clin Neuromuscul Dis       Date:  2017-03

2.  Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4.

Authors:  John B Rudell; Ricardo A Maselli; Vladimir Yarov-Yarovoy; Michael J Ferns
Journal:  Hum Mol Genet       Date:  2019-08-15       Impact factor: 6.150

Review 3.  Understanding structure-function relationships of the human neuronal acetylcholine receptor: insights from the first crystal structures of neuronal subunits.

Authors:  Petros Giastas; Marios Zouridakis; Socrates J Tzartos
Journal:  Br J Pharmacol       Date:  2017-06-20       Impact factor: 8.739

4.  Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine.

Authors:  Hacer Durmus; Heinrich Sticht; Serdar Ceylaner; Said Hashemolhosseini; Feza Deymeer
Journal:  Acta Neurol Belg       Date:  2020-10-08       Impact factor: 2.396

Review 5.  The emerging role of complement in neuromuscular disorders.

Authors:  John D Lee; Trent M Woodruff
Journal:  Semin Immunopathol       Date:  2021-10-27       Impact factor: 9.623

Review 6.  Congenital Myasthenic Syndromes: a Clinical and Treatment Approach.

Authors:  Constantine Farmakidis; Mamatha Pasnoor; Richard J Barohn; Mazen M Dimachkie
Journal:  Curr Treat Options Neurol       Date:  2018-07-21       Impact factor: 3.598

7.  Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.

Authors:  Hacer Durmus; Xin-Ming Shen; Piraye Serdaroglu-Oflazer; Bulent Kara; Yesim Parman-Gulsen; Coskun Ozdemir; Joan Brengman; Feza Deymeer; Andrew G Engel
Journal:  Neuromuscul Disord       Date:  2017-11-28       Impact factor: 4.296

8.  Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy.

Authors:  Justin C Kao; Margherita Milone; Duygu Selcen; Xin-Ming Shen; Andrew G Engel; Teerin Liewluck
Journal:  Neurology       Date:  2018-10-05       Impact factor: 9.910

9.  Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.

Authors:  Haicui Wang; Claire G Salter; Osama Refai; Holly Hardy; Katy E S Barwick; Ugur Akpulat; Malin Kvarnung; Barry A Chioza; Gaurav Harlalka; Fulya Taylan; Thomas Sejersen; Jane Wright; Holly H Zimmerman; Mert Karakaya; Burkhardt Stüve; Joachim Weis; Ulrike Schara; Mark A Russell; Omar A Abdul-Rahman; John Chilton; Randy D Blakely; Emma L Baple; Sebahattin Cirak; Andrew H Crosby
Journal:  Brain       Date:  2017-11-01       Impact factor: 13.501

10.  Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.

Authors:  Sandra Donkervoort; Payam Mohassel; Lucia Laugwitz; Maha S Zaki; Erik-Jan Kamsteeg; Reza Maroofian; Katherine R Chao; Corien C Verschuuren-Bemelmans; Veronka Horber; Annemarie J M Fock; Riley M McCarty; Minal S Jain; Victoria Biancavilla; Grace McMacken; Matthew Nalls; Nicol C Voermans; Hasnaa M Elbendary; Molly Snyder; Chunyu Cai; Tanya J Lehky; Valentina Stanley; Susan T Iannaccone; A Reghan Foley; Hanns Lochmüller; Joseph Gleeson; Henry Houlden; Tobias B Haack; Rita Horvath; Carsten G Bönnemann
Journal:  Am J Med Genet A       Date:  2020-08-10       Impact factor: 2.578
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