Literature DB >> 15951177

126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

David Beeson1, Daniel Hantaï, Hanns Lochmüller, Andrew G Engel.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2005        PMID： 15951177     DOI： 10.1016/j.nmd.2005.05.001

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


× No keyword cloud information.
  22 in total

1.  Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Authors:  Neil V Morgan; Louise A Brueton; Phillip Cox; Marie T Greally; John Tolmie; Shanaz Pasha; Irene A Aligianis; Hans van Bokhoven; Tamas Marton; Lihadh Al-Gazali; Jenny E V Morton; Christine Oley; Colin A Johnson; Richard C Trembath; Han G Brunner; Eamonn R Maher
Journal:  Am J Hum Genet       Date:  2006-06-20       Impact factor: 11.025

2.  Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.

Authors:  Raffaella Brugnoni; Lorenzo Maggi; Eleonora Canioni; Isabella Moroni; Chiara Pantaleoni; Stefano D'Arrigo; Daria Riva; Ferdinando Cornelio; Pia Bernasconi; Renato Mantegazza
Journal:  J Neurol       Date:  2010-02-16       Impact factor: 4.849

3.  Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

Authors:  M Milone; X M Shen; D Selcen; K Ohno; J Brengman; S T Iannaccone; C M Harper; A G Engel
Journal:  Neurology       Date:  2009-07-21       Impact factor: 9.910

Review 4.  The emerging diversity of neuromuscular junction disorders.

Authors:  J Newsom-Davis
Journal:  Acta Myol       Date:  2007-07

5.  Dok-7/MuSK signaling and a congenital myasthenic syndrome.

Authors:  Y Yamanashi; O Higuch; D Beeson
Journal:  Acta Myol       Date:  2008-07

6.  A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

Authors:  Eduardo de Paula Estephan; Cláudia Ferreira da Rosa Sobreira; André Clériston José Dos Santos; Pedro José Tomaselli; Wilson Marques; Roberta Paiva Magalhães Ortega; Marcela Câmara Machado Costa; André Macedo Serafim da Silva; Rodrigo Holanda Mendonça; Vitor Marques Caldas; Antonio Alberto Zambon; Osório Abath Neto; Paulo Eurípedes Marchiori; Carlos Otto Heise; Umbertina Conti Reed; Yoshiteru Azuma; Ana Töpf; Hanns Lochmüller; Edmar Zanoteli
Journal:  J Neurol       Date:  2018-01-30       Impact factor: 4.849

Review 7.  Therapeutic strategies in congenital myasthenic syndromes.

Authors:  Ulrike Schara; Hanns Lochmüller
Journal:  Neurotherapeutics       Date:  2008-10       Impact factor: 7.620

Review 8.  What have we learned from the congenital myasthenic syndromes.

Authors:  Andrew G Engel; Xin-Ming Shen; Duygu Selcen; Steven M Sine
Journal:  J Mol Neurosci       Date:  2009-08-18       Impact factor: 3.444

Review 9.  How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features.

Authors:  Paulo José Lorenzoni; Rosana Herminia Scola; Claudia Suemi Kamoi Kay; Lineu Cesar Werneck; Rita Horvath; Hanns Lochmüller
Journal:  Neuromolecular Med       Date:  2018-04-25       Impact factor: 3.843

10.  AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.

Authors:  Catharina G Faber; Peter C Molenaar; Johannes S H Vles; Domenic M Bonifati; Jan J G M Verschuuren; Pieter A van Doorn; Jan B M Kuks; John H J Wokke; David Beeson; Marc De Baets
Journal:  J Neurol       Date:  2009-06-21       Impact factor: 4.849
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.