Literature DB >> 19949040

Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

V Mihaylova1, M A M Salih, M M Mukhtar, H A Abuzeid, S M El-Sadig, M von der Hagen, A Huebner, G Nürnberg, A Abicht, J S Müller, H Lochmüller, V Guergueltcheva.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2009        PMID： 19949040     DOI： 10.1212/WNL.0b013e3181c3fce9

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


× No keyword cloud information.
  25 in total

1.  Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.

Authors:  Teerin Liewluck; Duygu Selcen; Andrew G Engel
Journal:  Muscle Nerve       Date:  2011-09-23       Impact factor: 3.217

2.  Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.

Authors:  Lorenzo Maggi; R Brugnoni; V Scaioli; T L Winden; L Morandi; A G Engel; R Mantegazza; P Bernasconi
Journal:  J Neurol       Date:  2013-10-12       Impact factor: 4.849

3.  Fatigue in Rapsyn-Deficient Zebrafish Reflects Defective Transmitter Release.

Authors:  Hua Wen; Jeffrey Michael Hubbard; Wei-Chun Wang; Paul Brehm
Journal:  J Neurosci       Date:  2016-10-19       Impact factor: 6.167

Review 4.  Current status of the congenital myasthenic syndromes.

Authors:  Andrew G Engel
Journal:  Neuromuscul Disord       Date:  2011-11-21       Impact factor: 4.296

Review 5.  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

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.  Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

Authors:  Ricardo A Maselli; Juan Arredondo; Orla Cagney; Jarae J Ng; Jennifer A Anderson; Colette Williams; Bae J Gerke; Betty Soliven; Robert L Wollmann
Journal:  Hum Mol Genet       Date:  2010-04-06       Impact factor: 6.150

8.  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

Review 9.  Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.

Authors:  Neha Sami; Vijay Kumar; Asimul Islam; Sher Ali; Faizan Ahmad; Imtaiyaz Hassan
Journal:  Mol Neurobiol       Date:  2016-08-20       Impact factor: 5.590

Review 10.  Structure and activation of MuSK, a receptor tyrosine kinase central to neuromuscular junction formation.

Authors:  Stevan R Hubbard; Kavitha Gnanasambandan
Journal:  Biochim Biophys Acta       Date:  2013-03-05
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.