Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2008 1
2009 1
2010 1
2013 2
2014 2
2017 1
2018 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Page 1
Congenital Myasthenic Syndromes in 2018.
Engel AG. Engel AG. Curr Neurol Neurosci Rep. 2018 Jun 12;18(8):46. doi: 10.1007/s11910-018-0852-4. Curr Neurol Neurosci Rep. 2018. PMID: 29892917 Review.
PURPOSE OF REVIEW: Summarize features of the currently recognized congenital myasthenic syndromes (CMS) with emphasis on novel findings identified in the past 6 years. ...
PURPOSE OF REVIEW: Summarize features of the currently recognized congenital myasthenic syndromes (CMS) with emphasis o …
Congenital myasthenic syndromes.
Eymard B, Hantaï D, Estournet B. Eymard B, et al. Handb Clin Neurol. 2013;113:1469-80. doi: 10.1016/B978-0-444-59565-2.00016-2. Handb Clin Neurol. 2013. PMID: 23622369 Review.
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. ...The combination of clinical, electrophysiological, and morph …
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neurom …
What have we learned from the congenital myasthenic syndromes.
Engel AG, Shen XM, Selcen D, Sine SM. Engel AG, et al. J Mol Neurosci. 2010 Jan;40(1-2):143-53. doi: 10.1007/s12031-009-9229-0. Epub 2009 Aug 18. J Mol Neurosci. 2010. PMID: 19688192 Free PMC article. Review.
The congenital myasthenic syndromes have now been traced to an array of molecular targets at the neuromuscular junction encoded by no fewer than 11 disease genes. ...
The congenital myasthenic syndromes have now been traced to an array of molecular targets at the neuromuscular junction …
Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.
Witting N, Vissing J. Witting N, et al. JAMA Neurol. 2014 Mar;71(3):350-4. doi: 10.1001/jamaneurol.2013.5590. JAMA Neurol. 2014. PMID: 24425145 Review.
IMPORTANCE: Congenital myasthenic syndromes (CMSs) are increasingly recognized as causes of muscle fatigue and weakness. However, treatment of individual syndromes has been described only in small case series. OBJECTIVE: To analyze the information publ …
IMPORTANCE: Congenital myasthenic syndromes (CMSs) are increasingly recognized as causes of muscle fatigue and weakness …
What's new in congenital myopathies?
North K. North K. Neuromuscul Disord. 2008 Jun;18(6):433-42. doi: 10.1016/j.nmd.2008.04.002. Epub 2008 May 14. Neuromuscul Disord. 2008. PMID: 18482838 Review.
The congenital myopathies are defined by distinctive morphologic abnormalities in skeletal muscle. Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes, with increasing availability of gene …
The congenital myopathies are defined by distinctive morphologic abnormalities in skeletal muscle. Over the past decade there have be …
[Congenital myasthenic syndromes; French experience].
Eymard B, Hantaï D, Fournier E, Nicole S, Sternberg D, Richard P, Fardeau M. Eymard B, et al. Bull Acad Natl Med. 2014 Feb;198(2):257-70; discussion 270-1. Bull Acad Natl Med. 2014. PMID: 26263703 Review. French.
Congenital myasthenic syndromes CMS) form a heterogeneous group of genetic diseases characterized by abnormal neuromuscular transmission. The associated muscular weakness is exacerbated by exertion and usually starts during infancy/childhood In 2002 a nationa …
Congenital myasthenic syndromes CMS) form a heterogeneous group of genetic diseases characterized by abnormal neuromusc …
[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].
Eymard B, Stojkovic T, Sternberg D, Richard P, Nicole S, Fournier E, Béhin A, Laforêt P, Servais L, Romero N, Fardeau M, Hantaï D; Membres du réseau national Syndromes Myasthéniques Congénitaux. Eymard B, et al. Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S45-55. doi: 10.1016/S0035-3787(13)70060-2. Rev Neurol (Paris). 2013. PMID: 23452772 Review. French.
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. ...In our experience, 3,4-DAP was a useful complement for sever …
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neurom …