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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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1993 3
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1995 2
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1998 4
1999 3
2000 4
2001 8
2002 7
2003 8
2004 9
2005 5
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207 results

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Page 1
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 …
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 …
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 …
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 …
Congenital Myasthenic Syndromes.
Shieh PB, Oh SJ. Shieh PB, et al. Neurol Clin. 2018 May;36(2):367-378. doi: 10.1016/j.ncl.2018.01.007. Neurol Clin. 2018. PMID: 29655455 Review.
The congenital myasthenic syndromes (CMS) are a group of rare genetic conditions characterized by abnormal neuromuscular transmission. Typically, these conditions have been the result of a dysfunctional protein that is present in the presynaptic termin …
The congenital myasthenic syndromes (CMS) are a group of rare genetic conditions characterized by abnormal neuromuscula …
Muscle channelopathies.
Statland J, Phillips L, Trivedi JR. Statland J, et al. Neurol Clin. 2014 Aug;32(3):801-15, x. doi: 10.1016/j.ncl.2014.04.002. Epub 2014 May 9. Neurol Clin. 2014. PMID: 25037091 Review.
This article summarizes the clinical manifestations, diagnostic studies, pathophysiology, and treatment options in nondystrophic myotonia, congenital myasthenic syndrome, and periodic paralyses....
This article summarizes the clinical manifestations, diagnostic studies, pathophysiology, and treatment options in nondystrophic myotonia, …
Myasthenia gravis and congenital myasthenic syndromes.
Gilhus NE. Gilhus NE. Handb Clin Neurol. 2023;195:635-652. doi: 10.1016/B978-0-323-98818-6.00010-8. Handb Clin Neurol. 2023. PMID: 37562891 Review.
Myasthenia gravis is an autoimmune disorder caused by antibodies against elements in the postsynaptic membrane at the neuromuscular junction, which leads to muscle weakness. Congenital myasthenic syndromes are rare and caused by mutations affecting pre- or po …
Myasthenia gravis is an autoimmune disorder caused by antibodies against elements in the postsynaptic membrane at the neuromuscular junction …
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 …
207 results