Literature DB >> 19933984

Endplate destruction due to maternal antibodies in arthrogryposis multiplex congenita.

J Reimann1, L Jacobson, A Vincent, C Kornblum.   

Abstract

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Year:  2009        PMID： 19933984     DOI： 10.1212/WNL.0b013e3181c34a65

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  6 in total

1.  ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

Authors:  Hiromi Hirata; Indrajit Nanda; Anne van Riesen; Gai McMichael; Hao Hu; Melanie Hambrock; Marie-Amélie Papon; Ute Fischer; Sylviane Marouillat; Can Ding; Servane Alirol; Melanie Bienek; Sabine Preisler-Adams; Astrid Grimme; Dominik Seelow; Richard Webster; Eric Haan; Alastair MacLennan; Werner Stenzel; Tzu Ying Yap; Alison Gardner; Lam Son Nguyen; Marie Shaw; Nicolas Lebrun; Stefan A Haas; Wolfram Kress; Thomas Haaf; Elke Schellenberger; Jamel Chelly; Géraldine Viot; Lisa G Shaffer; Jill A Rosenfeld; Nancy Kramer; Rena Falk; Dima El-Khechen; Luis F Escobar; Raoul Hennekam; Peter Wieacker; Christoph Hübner; Hans-Hilger Ropers; Jozef Gecz; Markus Schuelke; Frédéric Laumonnier; Vera M Kalscheuer
Journal:  Am J Hum Genet       Date:  2013-04-25       Impact factor: 11.025

Review 2.  Congenital myasthenic syndromes in 2012.

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

3.  Diagnosing arthrogryposis multiplex congenita: a review.

Authors:  Emmanouil Kalampokas; Theodoros Kalampokas; Chrisostomos Sofoudis; Efthymios Deligeoroglou; Dimitrios Botsis
Journal:  ISRN Obstet Gynecol       Date:  2012-09-23

4.  Fetal acetylcholine receptor inactivation syndrome: A myopathy due to maternal antibodies.

Authors:  Yael Hacohen; Leslie W Jacobson; Susan Byrne; Fiona Norwood; Abhimanu Lall; Stephanie Robb; Robertino Dilena; Monica Fumagalli; Alfred Peter Born; Debbie Clarke; Ming Lim; Angela Vincent; Heinz Jungbluth
Journal:  Neurol Neuroimmunol Neuroinflamm       Date:  2014-12-23

5.  Salbutamol-responsive fetal acetylcholine receptor inactivation syndrome.

Authors:  Nicholas M Allen; Yael Hacohen; Jacqueline Palace; David Beeson; Angela Vincent; Heinz Jungbluth
Journal:  Neurology       Date:  2016-01-20       Impact factor: 9.910

6.  Inhibition of Maternal-to-Fetal Transfer of IgG Antibodies by FcRn Blockade in a Mouse Model of Arthrogryposis Multiplex Congenita.

Authors:  Ester Coutinho; Leslie Jacobson; Anthony Shock; Bryan Smith; Anthony Vernon; Angela Vincent
Journal:  Neurol Neuroimmunol Neuroinflamm       Date:  2021-05-27
  6 in total

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