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Page 1
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Ohno K, et al. Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730. Int J Mol Sci. 2023. PMID: 36835142 Free PMC article. Review.
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ). ...
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular si
Congenital myasthenic syndromes and the neuromuscular junction.
Rodríguez Cruz PM, Palace J, Beeson D. Rodríguez Cruz PM, et al. Curr Opin Neurol. 2014 Oct;27(5):566-75. doi: 10.1097/WCO.0000000000000134. Curr Opin Neurol. 2014. PMID: 25159927 Review.
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins essential for the integrity of neuromuscular transmission. This review updates the reader on the new mutat …
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mut …
Congenital myasthenic syndromes: recent advances.
Beeson D. Beeson D. Curr Opin Neurol. 2016 Oct;29(5):565-71. doi: 10.1097/WCO.0000000000000370. Curr Opin Neurol. 2016. PMID: 27472506 Review.
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins essential for the integrity of neuromuscular transmission. ...
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mut …
Congenital myasthenic syndromes.
Hantaï D, Richard P, Koenig J, Eymard B. Hantaï D, et al. Curr Opin Neurol. 2004 Oct;17(5):539-51. doi: 10.1097/00019052-200410000-00004. Curr Opin Neurol. 2004. PMID: 15367858 Review.
In this article, a strategy that leads to the diagnosis of congenital myasthenic syndromes is presented, and recent advances in the clinical, genetic and molecular aspects of congenital myasthenic syndrome are outlined. ...Fluoxetine has …
In this article, a strategy that leads to the diagnosis of congenital myasthenic syndromes is presented, and recent adv …
Congenital myasthenic syndromes.
Beeson D, Palace J, Vincent A. Beeson D, et al. Curr Opin Neurol. 1997 Oct;10(5):402-7. doi: 10.1097/00019052-199710000-00008. Curr Opin Neurol. 1997. PMID: 9330886 Review.
Congenital myasthenic syndromes are a rare group of heterogeneous disorders affecting neuromuscular transmission. ...
Congenital myasthenic syndromes are a rare group of heterogeneous disorders affecting neuromuscular transmission. ...
Congenital myasthenic syndromes: an update.
Hantaï D, Nicole S, Eymard B. Hantaï D, et al. Curr Opin Neurol. 2013 Oct;26(5):561-8. doi: 10.1097/WCO.0b013e328364dc0f. Curr Opin Neurol. 2013. PMID: 23995276 Review.
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMSs) form a heterogeneous group of genetic diseases characterized by a dysfunction of neuromuscular transmission because of mutations in numerous genes. ...We also stress not only the diagnosis difficulties …
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMSs) form a heterogeneous group of genetic diseases characterized …
Skeletal muscle sodium channelopathies.
Nicole S, Fontaine B. Nicole S, et al. Curr Opin Neurol. 2015 Oct;28(5):508-14. doi: 10.1097/WCO.0000000000000238. Curr Opin Neurol. 2015. PMID: 26285000 Review.
RECENT FINDING: The relationship between two phenotypes and SCN4A has been confirmed with additional cases that remain extremely rare: severe neonatal episodic laryngospasm mimicking encephalopathy, which should be actively searched for since patients respond well to sodium chann …
RECENT FINDING: The relationship between two phenotypes and SCN4A has been confirmed with additional cases that remain extremely rare: sever …
Motor neuron, peripheral nerve, and neuromuscular junction disorders.
Vianello A, Racca F, Vita GL, Pierucci P, Vita G. Vianello A, et al. Handb Clin Neurol. 2022;189:259-270. doi: 10.1016/B978-0-323-91532-8.00014-8. Handb Clin Neurol. 2022. PMID: 36031308 Review.
In amyotrophic lateral sclerosis (ALS), Guillain-Barre syndrome (GBS), and neuromuscular junction disorders, three mechanisms may lead, singly or together, to respiratory emergencies and increase the disease burden and mortality: (i) reduced strength of diaphragm and acces …
In amyotrophic lateral sclerosis (ALS), Guillain-Barre syndrome (GBS), and neuromuscular junction disorders, three mechanisms may lea …
Genetic basis and phenotypic features of congenital myasthenic syndromes.
Engel AG. Engel AG. Handb Clin Neurol. 2018;148:565-589. doi: 10.1016/B978-0-444-64076-5.00037-5. Handb Clin Neurol. 2018. PMID: 29478601 Review.
The congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. ...In 10-14% of the probands the disease is caused by mutations in RAPSN, DOK 7, …
The congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular trans …
The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.
Vanhaesebrouck AE, Beeson D. Vanhaesebrouck AE, et al. Curr Opin Neurol. 2019 Oct;32(5):696-703. doi: 10.1097/WCO.0000000000000736. Curr Opin Neurol. 2019. PMID: 31361628 Free PMC article. Review.
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins whose function is essential for the integrity of neuromuscular transmission. ...
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mut …
46 results