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

Year Number of Results
1982 1
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1984 1
1987 1
1988 2
1990 1
1993 3
1994 1
1995 2
1997 3
1998 4
1999 4
2000 6
2001 9
2002 8
2003 9
2004 9
2005 6
2006 2
2007 8
2008 11
2009 8
2010 8
2011 8
2012 14
2013 12
2014 11
2015 6
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2020 10
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2022 5
2023 17
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233 results

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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: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM. Engel AG, et al. Lancet Neurol. 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. Lancet Neurol. 2015. PMID: 25792100 Free PMC article. Review.
The congenital myasthenic syndromes (CMS) are a diverse group of genetic disorders caused by abnormal signal transmission at the motor endplate, a special synaptic contact between motor axons and each skeletal muscle fibre. ...Although most CMS are treatable, …
The congenital myasthenic syndromes (CMS) are a diverse group of genetic disorders caused by abnormal signal transmissi …
Pediatric Myasthenia Gravis.
Peragallo JH. Peragallo JH. Semin Pediatr Neurol. 2017 May;24(2):116-121. doi: 10.1016/j.spen.2017.04.003. Epub 2017 Apr 7. Semin Pediatr Neurol. 2017. PMID: 28941526 Review.
Myasthenia that affects children can be classified into the following 3 forms: transient neonatal myasthenia, congenital myasthenic syndromes, and juvenile myasthenia gravis (JMG). ...
Myasthenia that affects children can be classified into the following 3 forms: transient neonatal myasthenia, congenital myastheni
Myasthenia Gravis and Congenital Myasthenic Syndromes.
Ciafaloni E. Ciafaloni E. Continuum (Minneap Minn). 2019 Dec;25(6):1767-1784. doi: 10.1212/CON.0000000000000800. Continuum (Minneap Minn). 2019. PMID: 31794470 Review.
PURPOSE OF REVIEW: Myasthenia gravis (MG) is an autoimmune neuromuscular disease that causes fluctuating weakness in ocular, bulbar, and limb muscles and can, in 15% of cases, cause myasthenic crisis, a neurologic emergency characterized by respiratory failure. ...Special …
PURPOSE OF REVIEW: Myasthenia gravis (MG) is an autoimmune neuromuscular disease that causes fluctuating weakness in ocular, bulbar, and lim …
Neuromuscular Junction Formation, Aging, and Disorders.
Li L, Xiong WC, Mei L. Li L, et al. Annu Rev Physiol. 2018 Feb 10;80:159-188. doi: 10.1146/annurev-physiol-022516-034255. Epub 2017 Dec 1. Annu Rev Physiol. 2018. PMID: 29195055 Review.
Deficits in NMJ formation and maintenance cause neuromuscular disorders, including congenital myasthenic syndrome and myasthenia gravis. NMJ decline occurs in aged animals and may appear before clinical presentation of motoneuron disorders such as amyotrophic …
Deficits in NMJ formation and maintenance cause neuromuscular disorders, including congenital myasthenic syndrome and m …
Complexities of the glomerular basement membrane.
Naylor RW, Morais MRPT, Lennon R. Naylor RW, et al. Nat Rev Nephrol. 2021 Feb;17(2):112-127. doi: 10.1038/s41581-020-0329-y. Epub 2020 Aug 24. Nat Rev Nephrol. 2021. PMID: 32839582 Review.
Defects in GBM components are associated with a range of hereditary human diseases such as Alport syndrome, which is caused by defects in the genes COL4A3, COL4A4 and COL4A5, and Pierson syndrome, which is caused by variants in LAMB2. ...
Defects in GBM components are associated with a range of hereditary human diseases such as Alport syndrome, which is caused by defect …
The Neuromuscular Junction: Roles in Aging and Neuromuscular Disease.
Iyer SR, Shah SB, Lovering RM. Iyer SR, et al. Int J Mol Sci. 2021 Jul 28;22(15):8058. doi: 10.3390/ijms22158058. Int J Mol Sci. 2021. PMID: 34360831 Free PMC article. Review.
Primary defects in the NMJ also influence functional loss in motor neuron disease, congenital myasthenic syndromes and myasthenia gravis, resulting in skeletal muscle weakness and heightened fatigue. ...
Primary defects in the NMJ also influence functional loss in motor neuron disease, congenital myasthenic syndromes and …
Pediatric Neuromuscular Diseases.
Rathore G, Kang PB. Rathore G, et al. Pediatr Neurol. 2023 Dec;149:1-14. doi: 10.1016/j.pediatrneurol.2023.08.034. Epub 2023 Aug 29. Pediatr Neurol. 2023. PMID: 37757659 Review.
TOR1AIP1-Associated Nuclear Envelopathies.
Mackels L, Liu X, Bonne G, Servais L. Mackels L, et al. Int J Mol Sci. 2023 Apr 7;24(8):6911. doi: 10.3390/ijms24086911. Int J Mol Sci. 2023. PMID: 37108075 Free PMC article. Review.
The clinical spectrum of diseases related to mutations in TOR1AIP1 is broad, including muscular dystrophy, congenital myasthenic syndrome, cardiomyopathy, and multisystemic disease with or without progeroid features. ...
The clinical spectrum of diseases related to mutations in TOR1AIP1 is broad, including muscular dystrophy, congenital myasthenic
Congenital myasthenic syndrome: a brief review.
Lorenzoni PJ, Scola RH, Kay CS, Werneck LC. Lorenzoni PJ, et al. Pediatr Neurol. 2012 Mar;46(3):141-8. doi: 10.1016/j.pediatrneurol.2011.12.001. Pediatr Neurol. 2012. PMID: 22353287 Review.
Congenital myasthenic syndromes comprise heterogeneous genetic diseases characterized by compromised neuromuscular transmission. ...Different drugs may be beneficial, or should be avoided because they are ineffective or worsen some forms of congenital
Congenital myasthenic syndromes comprise heterogeneous genetic diseases characterized by compromised neuromuscular tran
233 results