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1983 1
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1988 1
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2004 1
2005 2
2007 2
2008 2
2009 3
2011 2
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2014 2
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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
DOK7 congenital myasthenic syndrome: case series and review of literature.
Ziaadini B, Ghaderi Yazdi B, Dirandeh E, Boostani R, Karimi N, Panahi A, Kariminejad A, Fadaee M, Ahangari F, Nafissi S. Ziaadini B, et al. BMC Neurol. 2024 Jun 21;24(1):211. doi: 10.1186/s12883-024-03713-0. BMC Neurol. 2024. PMID: 38907197 Free PMC article. Review.
BACKGROUND: Congenital myasthenic syndromes (CMS) are among the most challenging differential diagnoses in the neuromuscular domain, consisting of diverse genotypes and phenotypes. ...RESULTS: The symptoms started from birth to as late as the age of 33, with …
BACKGROUND: Congenital myasthenic syndromes (CMS) are among the most challenging differential diagnoses in the neuromus …
Congenital myasthenic syndromes: increasingly complex.
Ramdas S, Beeson D, Dong YY. Ramdas S, et al. Curr Opin Neurol. 2024 Oct 1;37(5):493-501. doi: 10.1097/WCO.0000000000001300. Epub 2024 Jul 25. Curr Opin Neurol. 2024. PMID: 39051439 Free PMC article. Review.
PURPOSE OF REVIEW: Congenital myasthenia syndromes (CMS) are treatable, inherited disorders affecting neuromuscular transmission. ...
PURPOSE OF REVIEW: Congenital myasthenia syndromes (CMS) are treatable, inherited disorders affecting neuromuscular transmissi …
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. ...
Myasthenia gravis.
Juel VC, Massey JM. Juel VC, et al. Orphanet J Rare Dis. 2007 Nov 6;2:44. doi: 10.1186/1750-1172-2-44. Orphanet J Rare Dis. 2007. PMID: 17986328 Free PMC article. Review.
Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscle groups. ...In patients with fatigable muscle weakness, the diagnosis of MG is supported by: 1. pharmacologic testing with edrophonium chlori …
Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscle …
Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature.
Batheja A, Bayer-Vile J, Silverstein E, Couser N. Batheja A, et al. Ophthalmic Genet. 2024 Oct;45(5):481-487. doi: 10.1080/13816810.2024.2352391. Epub 2024 Jun 4. Ophthalmic Genet. 2024. PMID: 38832364 Review.
INTRODUCTION: Congenital Myasthenic Syndromes are a diverse group of conditions with a broad array of genetic underpinnings and phenotypic presentations. ...METHODS: We report a case of a 4-year-old male with suspected Congenital Myasthenic S
INTRODUCTION: Congenital Myasthenic Syndromes are a diverse group of conditions with a broad array of genetic underpinn …
The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.
Liao X, Wang Y, Lai X, Wang S. Liao X, et al. Biomol Biomed. 2023 Sep 4;23(5):772-784. doi: 10.17305/bb.2022.8641. Biomol Biomed. 2023. PMID: 36815443 Free PMC article. Review.
Therefore, Rapsyn is essential to the NMJ formation and maintenance, and Rapsyn mutant is one of the reasons causing the pathogenies of congenital myasthenic syndrome (CMS). In addition, there is little research on Rapsyn in the central nervous system (CNS). …
Therefore, Rapsyn is essential to the NMJ formation and maintenance, and Rapsyn mutant is one of the reasons causing the pathogenies of c
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 …
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 …
50 results