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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 …
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 …
Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review.
Luan X, Tian W, Cao L. Luan X, et al. Clin Neurol Neurosurg. 2016 Nov;150:41-45. doi: 10.1016/j.clineuro.2016.08.021. Epub 2016 Aug 22. Clin Neurol Neurosurg. 2016. PMID: 27588369 Review.
OBJECTIVES: To describe the clinical and genetic features of a Chinese congenital myasthenic syndromes (CMS) patient with two novel missense mutations in muscle specific receptor tyrosine kinase (MUSK) gene and review 15 MUSK-related CMS patients from 8 count …
OBJECTIVES: To describe the clinical and genetic features of a Chinese congenital myasthenic syndromes (CMS) patient wi …
Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations.
Shao S, Shi G, Bi FF, Huang K. Shao S, et al. Curr Neuropharmacol. 2023;21(7):1594-1605. doi: 10.2174/1570159X21666230126145652. Curr Neuropharmacol. 2023. PMID: 36703579 Free PMC article. Review.
BACKGROUND: Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various proteins. ...PubMed, MEDLINE, Web of Science, and Cochrane Library databases were searched to identify studies published in English before …
BACKGROUND: Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various …
Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology.
Ohkawara B, Ito M, Ohno K. Ohkawara B, et al. Int J Mol Sci. 2021 Feb 28;22(5):2455. doi: 10.3390/ijms22052455. Int J Mol Sci. 2021. PMID: 33671084 Free PMC article. Review.
: Signal transduction at the neuromuscular junction (NMJ) is affected in many human diseases, including congenital myasthenic syndromes (CMS), myasthenia gravis, Lambert-Eaton myasthenic syndrome, Isaacs' syndrome, Schwartz-Jampel synd …
: Signal transduction at the neuromuscular junction (NMJ) is affected in many human diseases, including congenital myasthenic …
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 …
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. ...
BACKGROUND: Congenital myasthenic syndromes (CMSs) are rare genetic diseases due to abnormalities of the neuromuscular …
Management of myasthenic conditions: nonimmune issues.
Argov Z. Argov Z. Curr Opin Neurol. 2009 Oct;22(5):493-7. doi: 10.1097/WCO.0b013e32832f15fa. Curr Opin Neurol. 2009. PMID: 19593127 Review.
PURPOSE OF REVIEW: To review some management issues in myasthenic disorders that are not part of the immune interventions. ...Pyridostigmine seems not to have an additional effect to 3-4 diaminopyridine in Lambert Eaton myasthenic syndrome. Bilevel positive a …
PURPOSE OF REVIEW: To review some management issues in myasthenic disorders that are not part of the immune interventions. ...Pyridos …
Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.
Müller JS, Mihaylova V, Abicht A, Lochmüller H. Müller JS, et al. Expert Rev Mol Med. 2007 Aug 9;9(22):1-20. doi: 10.1017/S1462399407000427. Expert Rev Mol Med. 2007. PMID: 17686188 Review.
Genetic and autoimmune disorders known to compromise neuromuscular transmission are providing further insights into the complexities of NMJ function. Congenital myasthenic syndromes (CMSs) are a genetically and phenotypically heterogeneous group of rare hered …
Genetic and autoimmune disorders known to compromise neuromuscular transmission are providing further insights into the complexities of NMJ …
Neuromuscular disorders in the Gypsy ethnic group. A short review.
Navarro C, Teijeira S. Navarro C, et al. Acta Myol. 2003 May;22(1):11-4. Acta Myol. 2003. PMID: 12966699 Review.
Regarding neuromuscular diseases, the following have been identified: limb girdle muscular dystrophy type 2C also called gamma-sarcoglycanopathy, congenital myasthenic syndrome type 1a, spinal muscular atrophy, and three novel hereditary sensorimotor neuropat …
Regarding neuromuscular diseases, the following have been identified: limb girdle muscular dystrophy type 2C also called gamma-sarcoglycanop …
14 results