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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 94% an …
Myasthenia gravis (MG) and congenital myasthenic syndromes (CMS) are a group of disorders with a well characterised aut …
Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature.
El Kadiri Y, Ratbi I, Sefiani A, Lyahyai J. El Kadiri Y, et al. BMC Neurol. 2022 Aug 5;22(1):292. doi: 10.1186/s12883-022-02822-y. BMC Neurol. 2022. PMID: 35932018 Free PMC article. Review.
BACKGROUND: Congenital myasthenic syndromes (CMSs) are rare genetic diseases due to abnormalities of the neuromuscular junction leading to permanent or transient muscle fatigability and weakness. ...Clinical exome sequencing revealed a novel homozygous deleti …
BACKGROUND: Congenital myasthenic syndromes (CMSs) are rare genetic diseases due to abnormalities of the neuromuscular …
Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.
Witting N, Vissing J. Witting N, et al. JAMA Neurol. 2014 Mar;71(3):350-4. doi: 10.1001/jamaneurol.2013.5590. JAMA Neurol. 2014. PMID: 24425145 Review.
IMPORTANCE: Congenital myasthenic syndromes (CMSs) are increasingly recognized as causes of muscle fatigue and weakness. However, treatment of individual syndromes has been described only in small case series. OBJECTIVE: To analyze the information publ …
IMPORTANCE: Congenital myasthenic syndromes (CMSs) are increasingly recognized as causes of muscle fatigue and weakness …
[Congenital myasthenic syndromes with kinetic abnormalities of the acetylcholine receptor].
Islam Kediha M, Tazir M, Sternberg D, Eymard B, Ali Pacha L. Islam Kediha M, et al. Med Sci (Paris). 2023 Nov;39 Hors série n° 1:58-63. doi: 10.1051/medsci/2023135. Epub 2023 Nov 17. Med Sci (Paris). 2023. PMID: 37975772 Free article. Review. French.
Congenital myasthenic syndromes (CMS) are genetically and phenotypically very heterogeneous conditions resulting in a defect in the neuromuscular transmission. ...Among them, two types have been described: the slow channel syndrome (SCS) and the fast c
Congenital myasthenic syndromes (CMS) are genetically and phenotypically very heterogeneous conditions resulting in a d
Disorders of membrane channels or channelopathies.
Celesia GG. Celesia GG. Clin Neurophysiol. 2001 Jan;112(1):2-18. doi: 10.1016/s1388-2457(00)00496-x. Clin Neurophysiol. 2001. PMID: 11137655 Review.
The following inherited channelopathies are described. (1) Sodium channelopathies: familial generalized epilepsy with febrile seizures plus, hyperkalemic periodic paralysis, paramyotonias, hypokalemic periodic paralysis; (2) potassium channelopathies: benign infantile epilepsy, e …
The following inherited channelopathies are described. (1) Sodium channelopathies: familial generalized epilepsy with febrile seizures plus, …
Congenital myasthenic syndromes: an update.
Finlayson S, Beeson D, Palace J. Finlayson S, et al. Pract Neurol. 2013 Apr;13(2):80-91. doi: 10.1136/practneurol-2012-000404. Pract Neurol. 2013. PMID: 23468559 Review. No abstract available.
[Myasthenia, from the internist's point of view].
Eymard B. Eymard B. Rev Med Interne. 2014 Jul;35(7):421-9. doi: 10.1016/j.revmed.2013.08.013. Epub 2013 Oct 7. Rev Med Interne. 2014. PMID: 24112993 Review. French.
The disease characteristic features are the following: ocular symptoms (ptosis or diplopia) as main initial manifestation, extension to other muscles in 80 % of the cases, variability of the deficit, effort induced worsening, successive periods of exacerbation during the disease …
The disease characteristic features are the following: ocular symptoms (ptosis or diplopia) as main initial manifestation, extension to othe …
Structural and functional organization of synaptic acetylcholinesterase.
Aldunate R, Casar JC, Brandan E, Inestrosa NC. Aldunate R, et al. Brain Res Brain Res Rev. 2004 Dec;47(1-3):96-104. doi: 10.1016/j.brainresrev.2004.07.019. Brain Res Brain Res Rev. 2004. PMID: 15572165 Review.
These mutations determine end-plate acetylcholinesterase deficiency and induce one type of synaptic functional disorders observed in Congenital Myasthenic Syndromes (CMSs)....
These mutations determine end-plate acetylcholinesterase deficiency and induce one type of synaptic functional disorders observed in Cong
Splicing abnormalities in congenital myasthenic syndromes.
Ohno K, Engel AG. Ohno K, et al. Acta Myol. 2005 Oct;24(2):50-4. Acta Myol. 2005. PMID: 16550914 Review.
A total of 173 mutations has been reported to date in eight genes in congenital myasthenic syndromes. Sixteen intronic and five exonic mutations in three genes affect pre-mRNA splicing. ...Analysis of a series of artificial mutants conforms to the scanning mo …
A total of 173 mutations has been reported to date in eight genes in congenital myasthenic syndromes. Sixteen intronic …