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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. Most CMS stem from molecular …
The congenital myasthenic syndromes (CMS) are a diverse group of genetic disorders caused by abnormal signal transmission …
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 defe …
Several recently identified genes highlight the overlap between peripheral neuropathies and congenital myasthenic syndromes (C …
Tinnitus dyssynchrony-synchrony theory: a translational concept for diagnosis and treatment.
Shulman A, Goldstein B. Shulman A, et al. Int Tinnitus J. 2006;12(2):101-14. Int Tinnitus J. 2006. PMID: 17260875 Review.
The tinnitus dyssynchrony-synchrony theory (TDST) is a hypothesis that considers tinnitus to be an abnormal, conscious, auditory percept. It is believed to originate as an initial dyssynchrony in pre- or postsynaptic neuronal transmission within the peripheral …
The tinnitus dyssynchrony-synchrony theory (TDST) is a hypothesis that considers tinnitus to be an abnormal, conscious, auditory perc …
Conduction block and abnormal temporal dispersion--diagnostic criteria.
Weber F. Weber F. Electromyogr Clin Neurophysiol. 1997 Aug;37(5):305-9. Electromyogr Clin Neurophysiol. 1997. PMID: 9298343
Conduction block and abnormal temporal dispersion are important electrophysiological parameters for demyelination. ...Thus, different criteria should be used for conduction block or abnormal temporal dispersion for a given nerve. If a single value must be used as a …
Conduction block and abnormal temporal dispersion are important electrophysiological parameters for demyelination. ...Thus, different …
Advanced research on dopamine signaling to develop drugs for the treatment of mental disorders: regulation of dopaminergic neural transmission by tyrosine hydroxylase protein at nerve terminals.
Sumi-Ichinose C, Ichinose H, Ikemoto K, Nomura T, Kondo K. Sumi-Ichinose C, et al. J Pharmacol Sci. 2010;114(1):17-24. doi: 10.1254/jphs.09r28fm. Epub 2010 Aug 12. J Pharmacol Sci. 2010. PMID: 20716859 Free article. Review.
Interestingly, tyrosine hydroxylase protein was dramatically reduced in the dopaminergic nerve terminals of these mice, and they developed abnormal posture and motor disturbance. We propose that the biochemical and pathologic changes of Pts(-/-)-DPS mice are caused by mech …
Interestingly, tyrosine hydroxylase protein was dramatically reduced in the dopaminergic nerve terminals of these mice, and they developed …
Acute inflammatory demyelinating neuropathy: a critical evaluation of diagnostic criteria for demyelination.
Das KB, Taly AB, Gupta SK, Suresh TG, Rao S, Nagaraja D. Das KB, et al. Electromyogr Clin Neurophysiol. 1995 Dec;35(8):451-5. Electromyogr Clin Neurophysiol. 1995. PMID: 8773204
The commonest abnormality on motor nerve conduction study was prolonged distal latency (75%-83%) followed by reduction in CMAP amplitude (63%-82%), decreased velocity (48%-62%), conduction block (17%-39%) and f-wave abnormalities (37.8%-59%). ...All the patients had …
The commonest abnormality on motor nerve conduction study was prolonged distal latency (75%-83%) followed by reduction in CMAP amplit …