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Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment.
McMacken G, Whittaker RG, Wake R, Lochmuller H, Horvath R. McMacken G, et al. J Neurol. 2023 Jun;270(6):3112-3119. doi: 10.1007/s00415-023-11643-z. Epub 2023 Mar 4. J Neurol. 2023. PMID: 36869887 Free PMC article.
Several recently identified genes highlight the overlap between peripheral neuropathies and congenital myasthenic syndromes (CMS). The beta-2 adrenergic receptor agonist salbutamol has been shown to provide symptomatic benefit in CMS, while improving structural defects at …
Several recently identified genes highlight the overlap between peripheral neuropathies and congenital myasthenic syndromes (CMS). Th …
Myasthenia gravis: review of diagnosis and management.
Patten BM. Patten BM. Muscle Nerve. 1978 May-Jun;1(3):190-205. doi: 10.1002/mus.880010304. Muscle Nerve. 1978. PMID: 86952 Review.
Although the cause of myasthenia gravis is still unknown, its pathogenesis appears clear: immunologic attack on synaptic receptors in muscle causes receptor deficiency, decreased miniature endplate potentials, and decrements in the compound action potentials evoked from muscles o …
Although the cause of myasthenia gravis is still unknown, its pathogenesis appears clear: immunologic attack on synaptic receptors in muscle …
Baseline Decrement in Patients with Mild Myasthenia Gravis Predicts Immunomodulation Treatment.
Abraham A, Lovblom LE, Bril V. Abraham A, et al. Can J Neurol Sci. 2019 Nov;46(6):762-766. doi: 10.1017/cjn.2019.246. Can J Neurol Sci. 2019. PMID: 31322098
To explore whether higher degrees of electrophysiological abnormalities are associated with a more frequent exposure to a more aggressive treatment regimen, we performed a retrospective chart review of patients attending the neuromuscular clinic from June 2012 to December …
To explore whether higher degrees of electrophysiological abnormalities are associated with a more frequent exposure to a more aggres …
Congenital myasthenic syndromes in childhood: diagnostic and management challenges.
Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA. Kinali M, et al. J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j.jneuroim.2008.06.026. Epub 2008 Aug 15. J Neuroimmunol. 2008. PMID: 18707767
The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems. ...Fatigability developed in …
The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdia …
Tibialis anterior R-1 response: physiological behaviour, normative data and clinical utility in L4-L5 radicular compression.
Pradhan S. Pradhan S. Electroencephalogr Clin Neurophysiol. 1993 Feb;89(1):10-21. doi: 10.1016/0168-5597(93)90079-5. Electroencephalogr Clin Neurophysiol. 1993. PMID: 7679625
A modified H-reflex, known as R-1 response, was recorded in healthy subjects by averaging 200 responses from the moderately contracting tibialis anterior muscle (TA) after repetitive submaximal stimulation of common peroneal nerve. Physiological changes to di …
A modified H-reflex, known as R-1 response, was recorded in healthy subjects by averaging 200 responses from the moderately contracting tibi …