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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 …
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). A total of 35 genes have been
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular si
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.
Chompoopong P, Milone M. Chompoopong P, et al. Genes (Basel). 2023 Jan 31;14(2):372. doi: 10.3390/genes14020372. Genes (Basel). 2023. PMID: 36833299 Free PMC article. Review.
The clinical spectrum of GMPPB-related disorders spans from severe congenital muscular dystrophy (CMD) with brain and eye abnormalities to mild forms of limb-girdle muscular dystrophy (LGMD) to recurrent rhabdomyolysis without overt muscle weakness. GMPPB mutations can als …
The clinical spectrum of GMPPB-related disorders spans from severe congenital muscular dystrophy (CMD) with brain and eye abnormaliti …
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.
Clinical manifestations vary by congenital myasthenic syndrome subtype. Electrophysiologic, morphologic, and molecular descriptions of various forms of congenital myasthenic syndromes have led to an enhanced understanding of clinical mani …
Clinical manifestations vary by congenital myasthenic syndrome subtype. Electrophysiologic, morphologic, and molecular …
Bedside and laboratory diagnostic testing in myasthenia.
Yoganathan K, Stevenson A, Tahir A, Sadler R, Radunovic A, Malek N. Yoganathan K, et al. J Neurol. 2022 Jun;269(6):3372-3384. doi: 10.1007/s00415-022-10986-3. Epub 2022 Feb 10. J Neurol. 2022. PMID: 35142871 Free PMC article. Review.
Myasthenia gravis (MG) and congenital myasthenic syndromes (CMS) are a group of disorders with a well characterised autoimmune or genetic and neurophysiological basis. ...Diagnostic sensitivity of repetitive nerve stimulation test ranges between 14 and …
Myasthenia gravis (MG) and congenital myasthenic syndromes (CMS) are a group of disorders with a well characterised aut …
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 one-half of the currently identified probands, the disease stems from mutat …
The congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular trans …
Congenital myasthenic syndromes in 2012.
Engel AG. Engel AG. Curr Neurol Neurosci Rep. 2012 Feb;12(1):92-101. doi: 10.1007/s11910-011-0234-7. Curr Neurol Neurosci Rep. 2012. PMID: 21997714 Free PMC article. Review.
Congenital myasthenic syndromes (CMS) represent a heterogeneous group of disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. ...
Congenital myasthenic syndromes (CMS) represent a heterogeneous group of disorders in which the safety margin of neurom
Current status of the congenital myasthenic syndromes.
Engel AG. Engel AG. Neuromuscul Disord. 2012 Feb;22(2):99-111. doi: 10.1016/j.nmd.2011.10.009. Epub 2011 Nov 21. Neuromuscul Disord. 2012. PMID: 22104196 Free PMC article. Review.
Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. ...The disease proteins identified to date include choline acetyltransferase (ChAT),
Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmiss
Current approach to seronegative myasthenia.
Argov Z. Argov Z. J Neurol. 2011 Jan;258(1):14-8. doi: 10.1007/s00415-010-5746-6. Epub 2010 Sep 18. J Neurol. 2011. PMID: 20852878 Review.
Such seronegative patients may have low affinity antibodies but may also be late onset of a congenital myasthenic syndrome. This review discuss the practical approach toward the condition of seronegative myasthenia....
Such seronegative patients may have low affinity antibodies but may also be late onset of a congenital myasthenic syndrome
Further observations in congenital myasthenic syndromes.
Engel AG, Shen XM, Selcen D, Sine SM. Engel AG, et al. Ann N Y Acad Sci. 2008;1132:104-13. doi: 10.1196/annals.1405.039. Ann N Y Acad Sci. 2008. PMID: 18567859 Free PMC article. Review.
During the past five years many patients suffering from congenital myasthenic syndromes (CMS) have been identified worldwide and novel causative genes and mutations have been discovered. ...
During the past five years many patients suffering from congenital myasthenic syndromes (CMS) have been identified worl …
17 results